Items where Subject is "Q Science > QH Natural history > QH426 Genetics"

Abbes, A.P., Davies, J.H., Penney, M., Engel, H. and Gregory, J.W. (2006) Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm05602. [In: Novel Human Pathological Mutations (Human Gene Mutations), Paul D. Lewis]. Human Genetics, 118, (6), p.10. (doi:10.1007/s00439-005-0109-6)

Abdollahi, M.R., Gaunt, T.R., Syddall, H.E., Cooper, C., Phillips, D.I.W., Ye, S. and Day, I.N.M. (2005) Angiotensin II type I receptor gene polymorphism: anthropometric and metabolic syndrome traits. Journal of Medical Genetics, 42, (5), 396-401. (doi:10.1136/jmg.2004.026716)

Abdollahi, Mohammad R., Lewis, Rohan M., Gaunt, Tom R., Cumming, Debbie V.E., Rodriguez, Santiago, Rose-Zerilli, Matthew, Collins, Andrew R., Syddall, Holly E., Howell, William M., Cooper, Cyrus, Godfrey, Keith M., Cameron, Iain T. and Day, Ian N.M. (2007) Quantitated transcript haplotypes (QTH) of AGTR1, reduced abundance of mRNA haplotypes containing 1166C (rs5186:A>C), and relevance to metabolic syndrome traits. Human Mutation, 28, (4), 365-373. (doi:10.1002/humu.20454)

Agathocleous, A., Rule, S., Johnson, P., Radford, J.A., Lafon, N., Hunter, H., Kerr, J.P., Neeson, S.M., Matthews, J., Strauss, S., Montoto, S., Rohatiner, A.Z.S. and Lister, T.A. (2007) Preliminary results of a phase I/II study of weekly or twice weekly bortezomib in combination with rituximab, in patients with follicular lymphoma, mantle cell lymphoma and Waldenström's macroglobulinaemia. Blood, 110, (11), p.754A.

Agbeko, Rachel S., Holloway, John W., Allen, Meredith L., Ye, Shu, Fidler, Katy J., Pappachan, John, Goldman, Allan, Pontefract, David, Deanfield, John, Klein, Nigel J. and Peters, Mark J. (2010) Genetic polymorphisms in the endotoxin receptor may influence platelet count as part of the acute phase response in critically ill children. Intensive Care Medicine, 36, (6), 1023-1032. (doi:10.1007/s00134-010-1857-x)

Ahmed, A., Jevremovic, D., Suzuki, K., Kottke, T., Thompson, J., Emery, S., Harrington, K., Bateman, A. and Vile, R. (2003) Intratumoral expression of a fusogenic membrane glycoprotein enhances the efficacy of replicating adenovirus therapy. Gene therapy, 10, (19), 1663-1671. (doi:10.1038/sj.gt.3302064)

Ahmed, S., Ghoussaini, M., Healey, C.S., Humphreys, M.K., Platte, R., Morrison, J., Maranian, M., Pooley, K.A., Luben, R., Eccles, D., Evans, D.G., Fletcher, O., Johnson, N., dos Santos Silva, I., Peto, J., Stratton, M.R., Rahman, N., Jacobs, K., Prentice, R., Anderson, G.L., Rajkovic, A., Curb, J.D., Ziegler, R.G., Berg, C.D., Buys, S.S., McCarthy, C.A., Feigelson, H.S., Calle, E.E., Thun, M.J., Diver, W.R., Bojesen, S., Nordestgaard, B.G., Flyger, H., Dork, T., Schurmann, P., Hillemanns, P., Karstens, J.H., Bogdanova, N.V., Antonenkova, N.N., Zalutsky, I.V., Bermisheva, M., Fedorova, S., Khusnutdinova, E., Kang, D., Yoo, K.Y., Noh, D.Y., Ahn, S.H., Devilee, P., van Asperen, C.J., Tollenaar, R.S., Seynaeve, C., Garcia-Closas, M., Lissowska, J., Brinton, L., Peplonska, B., Nevanlinna, H., Heikkinen, T., Aittomaki, K., Blomqvist, C., Hopper, J.L., Southey, M.C., Smith, L., Spurdle, A.B., Schmidt, M.K., Broeks, A., van Hien, R.R., Cornelissen, S., Milne, R.L., Ribas, G., Gonzalez-Neira, A., Benitez, J., Schmutzler, R.K., Burwinkel, B., Bartram, C.R., Meindl, A., Brauch, H., Justenhoven, C., Hammann, U., Chang-Claude, J., Hein, R., Wang-Gohrke, S., Lindblom, A., Margolin, S., Mannermaa, A., Kosma, V.M., Kataja, V., Olson, J.E., Wang, X., Fredericksen, Z., Giles, G.G., Severi, G., Baglietto, L., English, D.R., Hankinson, S.E., Cox, D.G., Kraft, P., Vatten, L.J., Hveem, K., Kumle, M., Sigurdson, A., Doody, M., Bhatti, P., Alexander, B.H., Hooning, N.J., van den Ouweland, A.M., Oldenburg, R.A., Schutte, M., Hall, P., Czene, K., Liu, J., Li, Y., Cox, A., Elliott, G., Brock, I., Reed, M.W., Shen, C.Y., Yu, J.C., Hsu, G.C., Chen, S.T., Anton-Culver, H., Ziogas, A., Andrulis, I.L., Knight, J.A., Beesley, J., Goode, E.L., Couch, F., Chenevix-Trench, G., Hoover, R.N., Ponder, B.A., Hunter, D.J., Pharaoah, P.D., Dunning, A.M., Chanock, S.J. and Easton, D.F. SEARCH, GENICA Consortium and kConFab; Australian Ovarian Cancer Study Group (2009) Newly discovered breast cancer susceptibility loci in 3p24 and 17q23.2. Nature Genetics, 41, (5), 585-590. (doi:10.1038/ng.354) (PMID:19330027)

Aihie-Sayer, Avan and Cooper, Cyrus (2005) Fetal programming of body composition and musculoskeletal development. Early Human Development, 81, (9), 735-744. (doi:10.1016/j.earlhumdev.2005.07.003)

Al-Ruwaili, J.A., Larkin, S.E., Zeidan, B.A., Taylor, M.G., Adra, C.N., Aukim-Hastie, C.L. and Townsend, P.A. (2010) Discovery of serum protein biomarkers for prostate cancer progression by proteomic analysis. Cancer Genomics and Proteomics, 7, (2), 93-103.

Alam, N.A., Bevan, S., Churchman, M., Barclay, E., Barker, K., Jaeger, E.E., Nelson, H.M., Healy, E., Pembroke, A.C., Friedmann, P.S., Dalziel, K., Calonje, E., Anderson, J., August, P.J., Davies, M.G., Felix, R., Munro, C.S., Murdoch, M., Rendall, J., Kennedy, S., Leigh, I.M., Kelsell, D.P., Tomlinson, I.P. and Houlston, R.S. (2001) Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43. American Journal of Human Genetics, 68, (5), 1264-1269.

Aldahmesh, M., Spanakis, E., Day, I.N.M. and Eccles, D.M. (2001) The application of microplate array diagonal gel electrophoresis (melt-MADGE) to high throughput inexpensive BRCA1 mutation analysis. Journal of Medical Genetics, 38, pp.S58.

Alfred, Tamuno, Ben-Shlomo, Yaov, Cooper, Rachel, Hardy, Rebecca, Cooper, Cyrus, Deary, Ian J., Elliott, Jane, Gunnell, David, Harris, Sarah E., Kivimaki, Mika, Kumari, Meena, Martin, Richard M., Power, Chris, Sayer, Avan A., Starr, John M., Kuh, Diana and Day, Ian N. HALCyon Study Team (2011) Absence of association of a SNP in the TERT-CLPTM1L locus with age-related phenotypes in a large multi-cohort study: HALCyon program. Aging Cell(doi:10.1111/(ISSN)1474-9726) (PMID:21332924)

Alharbi, K.K., Haddad, L., Ye, S., Lawlor, D.A., Whittall, R.A., Spanakis, E., Chen, X., Rassoulian, H., Simpson, I., Phillips, D.I.W., Cooper, C., Smith, G. Davey, Humphries, S.E., Ebrahim, S. and Day, I.N.M. (2004) Workshop. W14.345 Mutation scanning of LDLR in the whole population. Atherosclerosis Supplements, 5, (1), p.80. (doi:10.1016/S1567-5688(04)90344-9)

Alharbi, Khalid K., Aldahmesh, Mohammed A., Spanakis, Emmanuel, Haddad, Lema, Whittall, Roslyn A., Chen, Xiao-he, Rassoulian, Hamid, Smith, Matt J., Sillibourne, Julie, Ball, Nicola J., Graham, Nikki J., Briggs, Patricia J., Simpson, Iain A., Phillips, David I.W., Lawlor, Deborah A., Ye, Shu, Humphries, Stephen E., Cooper, Cyrus, Smith, George Davey, Ebrahim, Shah, Eccles, Diana M. and Day, Ian N.M. (2005) Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population. Genome Research, 15, (7), 967-977. (doi:10.1101/gr.3313405)

Alhopuro, Pia, Phichith, Denis, Tuupanen, Sari, Sammalkorpi, Heli, Nybondas, Miranda, Saharinen, Juha, Robinson, James P., Yang, Zhaohui, Chen, Li-Qiong, Orntoft, Torben, Mecklin, Jukka-Pekka, Järvinen, Heikki, Eng, Charis, Moeslein, Gabriela, Shibata, Darryl, Houlston, Richard S., Lucassen, Anneke, Tomlinson, Ian P.M., Launonen, Virpi, Ristimäk, Ari, Arango, Diego, Karhu, Auli, Sweeney, H. Lee and Aaltonen, Lauri A. (2008) Unregulated smooth-muscle myosin in human intestinal neoplasia. Proceedings of the National Academy of Sciences of the United States of America, 105, (14), 5513-5518. (doi:10.1073/pnas.0801213105)

Ali, Shakir and Mann, Derek A. (2004) Signal transduction via the NF-κB pathway: a targeted treatment modality for infection, inflammation and repair. Cell Biochemistry and Function, 22, (2), 67-79. (doi:10.1002/cbf.1082)

Amaral Zettler, Linda A., Messerli, Mark A., Laatsch, Abby D, Smith, Peter J.S. and Sogin, Mitchell L. (2003) From genes to genomes: beyond biodiversity in Spain's Rio Tinto. The Biological Bulletin, 204, (2), 205-209. (PMID:12700155)

Amaya-Amaya, Mabel, Gerard, Karen and Ryan, Mandy (2008) Discrete choice experiments in a nutshell. In, Ryan, Mandy, Gerard, Karen and Amaya-Amaya, Mabelo (eds.) Using Discrete Choice Experiments to Value Health and Health Care. Dordrecht, NL, Springer, 13-46. (The Economics of Non-Market Goods and Resources, 11). (doi:10.1007/978-1-4020-5753-3)

An, Q., Burke, G.A.A., Harrison, C.J., Kempski, H., Konn, Z.J., Strefford, J.C. and Martineau, M. (2009) Haploinsufficiency of the MLL and TOB2 genes in lymphoid malignancy. Leukemia(doi:10.1038/leu.2009.238)

An, Q., Wright, S.L., Konn, Z.J., Moorman, A.V., Harrison, C.J. and Strefford, J.C. (2007) Disruption of PAX5 in patients with acute lymphoblastic leukaemia and dicentric chromosomes. Journal of Medical Genetics, 44, pp.S32.

An, Qian, Wright, Sarah L., Konn, Zoë J., Matheson, Elizabeth, Minto, Lynne, Moorman, Anthony V., Parker, Helen, Griffiths, Mike, Ross, Fiona M., Davies, Teresa, Hall, Andy G., Harrison, Christine J., Irving, Julie A. and Strefford, Jon C. (2008) Variable breakpoints target PAX5 in patients with dicentric chromosomes: a model for the basis of unbalanced translocations in cancer. Proceedings of the National Academy of Sciences of the Unites States of America, 105, (44), 17050-17054. (doi:10.1073/pnas.0803494105) (PMID:18957548)

An, Qian, Wright, Sarah L., Moorman, Anthony V., Parker, Helen, Griffiths, Mike, Ross, Fiona M., Davies, Teresa, Harrison, Christine J. and Strefford, Jon C. (2009) Heterogeneous breakpoints in patients with acute lymphoblastic leukaemia and dic(9;20)(p11~13;q11) show recurrent gene involvement at 20q11.21. Haematologica, 94, (8), 1164-1169. (doi:10.3324/haematol.2008.002808)

Andermann, Anne A.J., Watson, Eila K., Lucassen, Anneke M. and Austoker, Joan (2001) The opinions, expectations and experiences of women with a family history of breast cancer who consult their GP and are referred to secondary care. Community Genetics, 4, (4), 239-243. (doi:10.1159/000064199)

Anderson, Christopher, Davies, Justin H., Lamont, Lilias and Foulds, Nicola (2011) Early pontocerebellar hypoplasia with vanishing testes: A new syndrome? American Journal of Medical Genetics Part A, 155, (4), 667-672. (doi:10.1002/ajmg.a.33897)

Anderson, J.W., Fox, K.R. and Niblo, G.A. (2006) A fast algorithm for the construction of universal footprinting templates in DNA. Journal of Mathematical Biology, 52, (3), 307-342. (doi:10.1007/s00285-005-0357-z)

Anderson, James W., Fox, Keith R. and Niblo, Graham A. (2006) A fast algorithm for the construction of universal footprinting templates in DNA. Journal of Mathematical Biology, 52, (3), 307-342. (doi:10.1007/s00285-005-0357-z)

Antoniou, A., Pharoah, P.D.P., Narod, S., Risch, H.A., Eyfjord, J.E., Hopper, J.L., Loman, N., Olsson, H., Johannsson, O., Borg, A., Pasini, B., Radice, P., Manoukian, S., Eccles, D.M., Tang, N., Olah, E., Anton-Culver, H., Warner, E., Lubinski, J., Gronwald, J., Gorski, B., Tulinius, H., Thorlacius, S., Eerola, H., Nevanlinna, H., Syrjäkoski, K., Kallioniemi, O.-P., Thompson, D., Evans, C., Peto, J., Lalloo, F., Evans, D.G. and Easton, D.F. (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. American Journal of Human Genetics, 72, (5), 1117-1130.

Antoniou, A.C., Cunningham, A.P., Peto, J., Evans, D.G., Lalloo, F., Narod, S.A., Risch, H.A., Eyfjord, J.E., Hopper, J.L., Southey, M.C., Olsson, H., Johannsson, O., Borg, A., Pasini, B., Radice, P., Manoukian, S., Eccles, D.M., Tang, N., Olah, E., Anton-Culver, H., Warner, E., Lubinski, J., Gronwald, J., Gorski, B., Tryggvadottir, L., Syrjakoski, K., Kallioniemi, O.P., Eerola, H., Nevanlinna, H., Pharoah, P.D. and Easton, D.F. (2008) The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. British Journal of Cancer, 98, (8), 1457-1466. (doi:10.1038/sj.bjc.6604305)

Antoniou, A.C., Hardy, R., Walker, L., Evans, D.G., Shenton, A., Eeles, R., Shanley, S., Pichert, G., Izatt, L., Rose, S., Douglas, F., Eccles, D., Morrison, P.J., Scott, J., Zimmern, R.L., Easton, D.F. and Pharoah, P.D.P. (2008) Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics. Journal of Medical Genetics, 45, (7), 425-431. (doi:10.1136/jmg.2007.056556)

Antoniou, A.C., Pharoah, P.D., Narod, S., Risch, H.A., Eyfjord, J.E., Hopper, J.L., Olsson, H., Johannsson, O., Borg, A., Pasini, B., Radice, P., Manoukian, S., Eccles, D.M., Tang, N., Olah, E., Nton-Culver, H., Warner, E., Lubinski, J., Gronwald, J., Gorski, B., Tulinius, H., Thorlacius, S., Eerola, H., Nevanlinna, H., Syrjakoski, K., Kallioniemi, O.P., Thompson, D., Evans, C., Peto, J., Lalloo, F., Evans, D.G. and Easton, D.F. (2005) Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies. Journal of Medical Genetics, 42, (7), 602-603. (doi:10.1136/jmg.2004.024133)

Antoniou, A.C., Sinilnikova, O.M., McGuffog, L., Healey, S., Nevanlinna, H., Heikkinen, T., Simard, J., Spurdle, A.B., Beesley, J., Chen, X., Neuhausen, S.L., Ding, Y.C., Couch, F.J., Wang, X., Fredericksen, Z., Peterlongo, P., Peissel, B., Bonanni, B., Viel, A., Bernard, L., Radice, P., Szabo, C.I., Foretova, L., Zikan, M., Claes, K., Greene, M.H., Mai, P.L., Rennert, G., Lejbkowicz, F., Andrulis, I.L., Ozcelik, H., Glendon, G., Gerdes, A.M., Thomassen, M., Sunde, L., Caligo, M.A., Laitman, Y., Kontorovich, T., Cohen, S., Kaufman, B., Dagan, E., Baruch, R.G., Friedman, E., Harbst, K., Barbany-Bustinza, G., Rantala, J., Ehrencrona, H., Karlsson, P., Domchek, S.M., Nathanson, K.L., Osorio, A., Blanco, I., Lasa, A., Benitez, J., Hammann, U., Hogervorst, F.B., Rookus, M.A., Collee, J.M., Devilee, P., Ligtenberg, M.J., van der Luijt, R.B., Aalfs, C.M., Waisfisz, Q., Wijnen, J., van Roozendaal, C.E., Peock, S., Cook, M., Frost, D., Oliver, C., Platte, R., Evans, D.G., Lalloo, F., Eeles, R., Izatt, L., Davidson, R., Chu, C., Eccles, D., Cole, T., Hodgson, S., Godwin, A.K., Stoppa-Lyonnet, D., Buecher, B., Leone, M., Bressac-de Paillerets, B., Remenieras, A., Caron, O., Lenoir, G.M., Sevenet, N., Longy, M., Ferrer, S.F., Prieur, F., Goldgar, D., Miron, A., John, E.M., Buys, S.S., Daly, M.B., Hopper, J.L., Terry, M.B., Yassin, Y., Singer, C., Gschwantler-Kaulich, D., Staudigl, C., Hansen, T.O., Barkardottir, R.B., Kirchhoff, T., Pal, P., Kosarin, K., Offit, K., Piedmonte, M., Rodriguez, G.C., Wakeley, K., Boggess, J.F., Basil, J., Schwartz, P.E., Blank, S.V., Toland, A.E., Montagna, M., Casella, C., Imyanitov, E.N., Allavena, A., Schmutzler, R.K., Versmold, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Niederacher, D., Deissler, H., Fiebig, B., Suttner, C., Schonbuchner, I., Gadzicki, D., Caldes, T., de la Hoya, M., Pooley, J.A., Easton, D.F. and Chenevix-Trench, G. Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer, OCGN, HEBON, EMBRACE, GEMO, Breast Cancer Family Registry and CIMBA (2009) Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Human Molecular Genetics, 18, (22), 4442-4456. (doi:10.1093/hmg/ddp372)

Apperley, Jane F., Gardembas, Martine, Melo, Junia V., Russell-Jones, Robin, Bain, Barbara J., Baxter, E. Joanna, Chase, Andrew, Chessells, Judith M., Colombat, Marie, Dearden, Claire E., Dimitrijevic, Sandra, Mahon, Francois X., Marin, David, Nikolova, Zariana, Olavarria, Eduardo, Silberman, Sandra, Schultheis, Beate, Cross, Nicholas C.P. and Goldman, John M. (2002) Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta. New England Journal of Medicine, 347, (7), 481-487. (doi:10.1182/blood.V98.13.3778)

Arhel, Nathalie J., Packham, Graham, Townsend, Paul A., Collard, Tracey J., H-Zadeh, Akram M., Sharp, Adam, Cutress, Ramsey I., Malik, Karim, Hague, Angela, Paraskeva, Chris and Williams, Ann C. (2003) The retinoblastoma protein interacts with Bag-1 in human colonic adenoma and carcinoma derived cell lines. International Journal of cancer, 106, (3), 364-371. (doi:10.1002/ijc.11257)

Armas, J.B., Pimentel, F., Guyer, P.B., Cooper, C., Pye, S.R. and O'Neill, T.W. (2002) Letter to the Editor. Evidence of geographic variation in the occurrence of Paget's disease. Bone, 30, (4), 649-650. (doi:10.1016/S8756-3282(01)00709-8)

Artigas, María Soler, Loth, Daan W, Wain, Louise V, Gharib, Sina A, Obeidat, Ma'en, Tang, Wenbo, Zhai, Guangju, Zhao, Jing Hua, Smith, Albert Vernon, Huffman, Jennifer E, Albrecht, Eva, Jackson, Catherine M, Evans, David M, Cadby, Gemma, Fornage, Myriam, Manichaikul, Ani, Lopez, Lorna M, Johnson, Toby, Aldrich, Melinda C, Aspelund, Thor, Barroso, Inês, Campbell, Harry, Cassano, Patricia A, Couper, David J, Eiriksdottir, Gudny, Franceschini, Nora, Garcia, Melissa, Gieger, Christian, Gislason, Gauti Kjartan, Grkovic, Ivica, Hammond, Christopher J, Hancock, Dana B, Harris, Tamara B, Ramasamy, Adaikalavan, Heckbert, Susan R, Heliövaara, Markku, Homuth, Georg, Hysi, Pirro G, James, Alan L, Jankovic, Stipan, Joubert, Bonnie R, Karrasch, Stefan, Klopp, Norman, Koch, Beate, Kritchevsky, Stephen B, Launer, Lenore J, Liu, Yongmei, Loehr, Laura R, Lohman, Kurt, Loos, Ruth J F, Lumley, Thomas, Al Balushi, Khalid A, Ang, Wei Q, Barr, R Graham, Beilby, John, Blakey, John D, Boban, Mladen, Boraska, Vesna, Brisman, Jonas, Britton, John R, Brusselle, Guy G, Cooper, Cyrus, Curjuric, Ivan, Dahgam, Santosh, Deary, Ian J, Ebrahim, Shah, Eijgelsheim, Mark, Francks, Clyde, Gaysina, Darya, Granell, Raquel, Gu, Xiangjun, Hankinson, John L, Hardy, Rebecca, Harris, Sarah E, Henderson, John, Henry, Amanda, Hingorani, Aroon D, Hofman, Albert, Holt, Patrick G, Hui, Jennie, Hunter, Michael L, Imboden, Medea, Jameson, Karen A, Kerr, Shona M, Kolcic, Ivana, Kronenberg, Florian, Liu, Jason Z, Marchini, Jonathan, McKeever, Tricia, Morris, Andrew D, Olin, Anna-Carin, Porteous, David J, Postma, Dirkje S, Rich, Stephen S, Ring, Susan M, Rivadeneira, Fernando, Rochat, Thierry, Sayer, Avan Aihie, Sayers, Ian, Sly, Peter D, Smith, George Davey, Sood, Akshay, Starr, John M, Uitterlinden, André G, Vonk, Judith M, Wannamethee, S Goya, Whincup, Peter H, Wijmenga, Cisca, Williams, O Dale, Wong, Andrew, Mangino, Massimo, Marciante, Kristin D, McArdle, Wendy L, Meibohm, Bernd, Morrison, Alanna C, North, Kari E, Omenaas, Ernst, Palmer, Lyle J, Pietiläinen, Kirsi H, Pin, Isabelle, Pola Sbreve Ek, Ozren, Pouta, Anneli, Psaty, Bruce M, Hartikainen, Anna-Liisa, Rantanen, Taina, Ripatti, Samuli, Rotter, Jerome I, Rudan, Igor, Rudnicka, Alicja R, Schulz, Holger, Shin, So-Youn, Spector, Tim D, Surakka, Ida, Vitart, Veronique, Völzke, Henry, Wareham, Nicholas J, Warrington, Nicole M, Wichmann, H-Erich, Wild, Sarah H, Wilk, Jemma B, Wjst, Matthias, Wright, Alan F, Zgaga, Lina, Zemunik, Tatijana, Pennell, Craig E, Nyberg, Fredrik, Kuh, Diana, Holloway, John W, Boezen, H Marike, Lawlor, Debbie A, Morris, Richard W, Probst-Hensch, Nicole, Kaprio, Jaakko, Wilson, James F, Hayward, Caroline, Kähönen, Mika, Heinrich, Joachim, Musk, Arthur W, Jarvis, Deborah L, Gläser, Sven, Järvelin, Marjo-Riitta, Ch Stricker, Bruno H, Elliott, Paul, O'Connor, George T, Strachan, David P, London, Stephanie J, Hall, Ian P, Gudnason, Vilmundur and Tobin, Martin D (2011) Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. Nature Genetics, 43, (11), 1082-1090. (doi:10.1038/ng.941) (PMID:21946350)

Asby, Daniel J., Arlt, Wiebke and Hanley, Neil A. (2009) The adrenal cortex and sexual differentiation during early human development. Reviews in Endocrine & Metabolic Disorders, 10, (1), 43-49. (doi:10.1007/s11154-008-9098-9)

Asherson, P., Zhou, K., Anney, R.J.L., Franke, B., Buitelaar, J., Ebstein, R., Gill, M., Altink, M., Arnold, R., Boer, F., Brookes, K., Buschgens, C., Butler, L., Cambell, D., Chen, W., Christiansen, H., Feldman, L., Fleischman, K., Fliers, E., Howe-Forbes, R., Goldfarb, A., Heise, A., Gabriëls, I., Johansson, L., Lubetzki, I., Marco, R., Medad, S., Minderaa, R., Mulas, F., Müller, U., Mulligan, A., Neale, B., Rijsdijk, F., Rabin, K., Rommelse, N., Sethna, V., Sorohan, J., Uebel, H., Psychogiou, L., Weeks, A., Barrett, R., Xu, X., Banaschewski, T., Sonuga-Barke, E., Eisenberg, J., Manor, I., Miranda, A., Oades, R.D., Roeyers, H., Rothenberger, A., Sergeant, J., Steinhausen, H-C, Taylor, E., Thompson, M. and Faraone, S.V. (2008) A high-density SNP linkage scan with 142 combined subtype ADHD sib pairs identifies linkage regions on chromosomes 9 and 16. Molecular Psychiatry, 13, (5), 514-521. (doi:10.1038/sj.mp.4002140)

Asopa, S., Anthony, F.W., Cagampang, F.R.A., Terroni, P.L., Bhattacharya, S., Ohri, S.K. and Hanson, M.A. (2007) Impact on the developmental profile of the murine heart by maternal protein restriction during preganancy. Early Human Development, 83, (Supplement1), p.S87. (doi:10.1016/S0378-3782(07)70186-X)

Asopa, S., Anthony, F.W., Cagampang, F.R.A., Terroni, P.L., Ohri, S.K. and Hanson, M.A. (2006) Elevated BNP expression in mouse offspring left ventricles after protein restriction in utero. Early Human Development, 82, (8), 516-517. (doi:10.1016/j.earlhumdev.2006.06.003)

Asumalahti, Kati, Veal, Colin, Laitinen, Tarja, Suomela, Sari, Allen, Michael, Elomaa, Outi, Moser, Michael, De Cid, Rafael, Ripatti, Samuli, Vorechovsky, Igor, Marcusson, Jan A., Nakagawa, Hidemi, Lazaro, Conxi, Estivill, Xavier, Capon, Francesca, Novelli, Giuseppe, Saarialho-Kere, Ulpu, Barker, Jonathan, Trembath, Richard and Kere, Juha (2002) Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus. Human Molecular Genetics, 11, (5), 589-597. (doi:10.1093/hmg/11.5.589)

Baart, E. B, Martini, E., van den Berg, I., Macklon, N. S., Galjaard, R-J. H., Fauser, B. C. J. M. and Van Opstal, D (2006) Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF. Human Reproduction, 21, (1), 223-233. (doi:10.1093/humrep/dei291) (PMID:16155075)

Baart, Esther B., Martini, Elena, Eijkemans, Marinus J, Van Opstal, Diane, Beckers, Nicole G.M., Verhoeff, Arie, Macklon, Nicholas S. and Fauser, Bart C.J.M. (2007) Milder ovarian stimulation for in-vitro fertilization reduces aneuploidy in the human preimplantation embryo: a randomized controlled trial. Human Reproduction, 22, (4), 980-988. (doi:10.1093/humrep/del484) (PMID:17204525)

Baas, Dominique C., Ho, Lintje, Ennis, Sarah, Merriam, Joanna E., Tanck, Michael W.T., Uitterlinden, André G., de Jong, Paulus T.V.M., Cree, Angela J., Griffiths, Helen L., Rivadeneira, Fernando, Hofman, Albert, van Duijn, Cornelia, Smith, R. Theodore, Barile, Gaetano R., Gorgels, Theo G.M.F., Vingerling, Johannes R., Klaver, Caroline C.W., Lotery, Andrew J., Allikmets, Rando and Bergen, Arthur A.B. (2010) The complement component 5 gene and age-related macular degeneration. Ophthalmology, 117, (3), 500-511. (doi:10.1016/j.ophtha.2009.08.032)

Babbage, Gavin, Garand, Richard, Robillard, Nelly, Zojer, Niklas, Stevenson, Freda K. and Sahota, Surinder S. (2004) Mantle cell lymphoma with t(11;14) and unmutated or mutated VH genes expresses AID and undergoes isotype switch events. Blood, 103, (7), 2795-2798. (doi:10.1182/blood-2003-05-1632)

Babbage, Gavin, Ottensmeier, Christian H., Blaydes, Jeremy, Stevenson, Freda K. and Sahota, Surinder S. (2006) Immunoglobulin heavy chain locus events and expression of activation-induced cytidine deaminase in epithelial breast cancer cell lines. Cancer Research, 66, (8), 3996-4000. (doi:10.1158/0008-5472.CAN-05-3704)

Babister, Jodie C., Tare, Rahul S., Green, David W., Inglis, Stefanie, Mann, Stephen and Oreffo, RRichard O.C. (2008) Genetic manipulation of human mesenchymal progenitors to promote chondrogenesis using “bead-in-bead” polysaccharide capsules. Biomaterials, 29, (1), 58-65. (doi:10.1016/j.biomaterials.2007.09.006) (PMID:17897711)

Bader, Bernhard L., Smyth, Neil, Nedbal, Sabine, Miosge, Nicolai, Baranowsky, Anke, Mokkapati, Sharada, Murshed, Mokkapati and Nischt, Roswitha (2005) Compound genetic ablation of nidogen 1 and 2 causes basement membrane defects and perinatal lethality in mice. Molecular and Cellular Biology, 25, (15), 6846-6856. (doi:10.1128/MCB.25.15.6846-6856.2005)

Baekgaard, Lone, Mikkelsen, Maria D., Sorensen, Danny M., Hegelund, Josefine N., Persson, Daniel P., Mills, Rebecca F., Yang, Zhang, Husted, Søren, Andersen, Jens Peter, Buch-Pedersen, Morten J., Schjoerring, Jan K., Williams, Lorraine E. and Palmgren, Michael G. (2010) A combined zinc/cadmium sensor and zinc/cadmium export regulator in a heavy metal pump. Journal of Biological Chemistry, 285, (41), 31243-31252. (doi:10.1074/jbc.M110.111260) (PMID:20650903)

Bailey, Joanne Louise (2010) Using Hi-Spots to investigate in vitro network dysfunction in Cysteine String Protein α knockout mice. University of Southampton, School of Biological Sciences, Doctoral Thesis, 281pp.

Bailey, Sarah G., Cragg, Mark S. and Townsend, Paul A. (2011) Family friction as ΔNp73 antagonises p73 and p53. International Journal of Biochemistry & Cell Biology, 43, (4), 482-486. (doi:10.1016/j.biocel.2010.12.022) (PMID:21216303)

Bailey, Sarah G., Sanchez-Elsner, Tilman, Stephanou, Anastasis, Cragg, Mark S. and Townsend, Paul A. (2010) Regulating the genome surveillance system: miRNAs and the p53 super family. Apoptosis, 15, (5), 541-552. (doi:10.1007/s10495-010-0456-1)

Baird, J., Osmond, C., Macgregor, A., Snieder, H., Hales, C.N. and Phillips, D.I.W. (2001) Testing the fetal origins hypothesis in twins: the Birmingham twin study. Diabetologia, 44, (1), 33-39. (doi:10.1007/s001250051577)

Bakakos, Petros, Smith, John L., Warner, John O., Vance, Gillian, Moss, Christine T., Hodges, Elizabeth, Lanham, Stuart and Howell, W.Martin (2001) Modification of T-cell receptor Vβ repertoire in response to allergen stimulation in peanut allergy. Journal of Allergy and Clinical Immunology, 107, (6), 1089-1094. (doi:10.1067/mai.2001.114651)

Bakrania, Preeti, Ugur Iseri, Sibel A., Wyatt, Alexander W., Bunyan, Dave J., Lam, Wayne W.K., Salt, Alison, Ramsay, Jacqueline, Robinson, David O. and Ragge, Nicola K. (2010) Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies. American Journal of Medical Genetics Part A, 152A, (5), 1310-1313. (doi:10.1002/ajmg.a.33239)

Balasubramanian, M., Shield, J.P., Acerini, C.L., Walker, J., Ellard, S., Marchand, M., Polak, M., Vaxillaire, M., Crolla, J.A., Bunyan, D.J., Mackay, D.J. and Temple, I.K. (2010) Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay. American Journal of Medical Genetics Part A, 152A, (2), 340-346. (doi:10.1002/ajmg.a.33194)

Balasubramanian, Meena, Barber, John C.K., Collinson, Morag N., Huang, Shuwen, Maloney, Viv K., Bunyan, Dave and Foulds, Nicki (2009) Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy. American Journal of Medical Genetics Part A, 149A, (4), 793-797. (doi:10.1002/ajmg.a.32463)

Balasubrarnanian, M., Barber, J.C.K., Collinson, M.N., Huang, S., Maloney, V.K. and Foulds, N. (2007) Inverted duplication of 41.6 Mb of 1q characterised by array CGH and review of distal 1q partial trisomy. Journal of Medical Genetics, 44, pp.S44.

Bamiou, Doris-Eva, Campbell, Nicole G., Musiek, Frank E., Taylor, Rachael, Chong, W.K., Moore, Anthony, van Heyningen, Veronica, Free, Samantha, Sisodiya, Sanjay and Luxon, Linda M. (2007) Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation. International Journal of Audiology, 46, (4), 196-202. (doi:10.1080/14992020601175952)

Bamiou, Doris-Eva, Campbell, Nicole G., Musiek, Frank E., Taylor, Rachael, Chong, W.K., Moore, Anthony, van Heyningen, Veronica, Free, Samantha, Sisodiya, Sanjay and Luxon, Linda M. (2007) Auditory and verbal working memory deficits in a child with congenital aniridia due to PAX6 mutation. Deficiencias en la memoria auditiva y verbal de un niño con aniridia congénita debida a una mutación en el PAX6. International Journal of Audiology, 46, (4), 196-202. (doi:10.1080/14992020601175952)

Bandy, Thomas J., Brewer, Ashley, Burns, Jonathan R., Marth, Gabriella, Nguyen, ThaoNguyen and Stulz, Eugen (2011) DNA as supramolecular scaffold for functional molecules: progress in DNA nanotechnology. Chemical Society Reviews, 40, (1), 138-148. (doi:10.1039/b820255a) (PMID:20694258)

Banka, Siddharth, Veeramachaneni, Ratna, Reardon, William, Howard, Emma, Bunstone, Sancha, Ragge, Nicola, Parker, Michael J, Crow, Yanick J, Kerr, Bronwyn, Kingston, Helen, Metcalfe, Kay, Chandler, Kate, Magee, Alex, Stewart, Fiona, McConnell, Vivienne P M, Donnelly, Deirdre E, Berland, Siren, Houge, Gunnar, Morton, Jenny E, Oley, Christine, Revencu, Nicole, Park, Soo-Mi, Davies, Sally J, Fry, Andrew E, Lynch, Sally Ann, Gill, Harinder, Schweiger, Susann, Lam, Wayne W K, Tolmie, John, Mohammed, Shehla N, Hobson, Emma, Smith, Audrey, Blyth, Moira, Bennett, Christopher, Vasudevan, Pradeep C, García-Miñaúr, Sixto, Henderson, Alex, Goodship, Judith, Wright, Michael J, Fisher, Richard, Gibbons, Richard, Price, Susan M, C de Silva, Deepthi, Temple, I Karen, Collins, Amanda L, Lachlan, Katherine, Elmslie, Frances, McEntagart, Meriel, Castle, Bruce, Clayton-Smith, Jill, Black, Graeme C and Donnai, Dian (2011) How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. European Journal of Human Genetics(doi:10.1038/ejhg.2011.220) (PMID:22126750)

Baple, Emma L., Poole, Rebecca L., Mansour, Sahar, Willoughby, Catherine, Temple, I. Karen, Docherty, Louise E., Taylor, Rohan and Mackay, Deborah J.G. (2011) An atypical case of hypomethylation at multiple imprinted loci. European Journal of Human Genetics, 19, (3), 360-362. (doi:10.1038/ejhg.2010.218) (PMID:21206512)

Baptista, J., Prigmore, E., Gribble, S.M., Jacobs, P.A., Carter, N.P. and Crolla, J.A. (2005) Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals. European Journal of Human Genetics, 13, (11), 1205-1212. (doi:10.1038/sj.ejhg.5201488)

Baralle, D., Baralle, M., Knezevich, A., Cumming, S., Whittaker, J., Monk, E., Treacy, R. and Ffrench-Constant, C. (2004) Correlation of in silico prediction and in vivo effect of mutations in ESEs. Journal of Medical Genetics, 41, pp.S67.

Baralle, D., Mattocks, C., Del Conte, L., Knisievich, A., Whittaker, J., Ffrench-Constant, C., Baralle, F. and Baralle, M. (2002) Molecular pathology of NF1 pre mRNA processing. Journal of Medical Genetics, 39, pp.S82.

Baralle, D., Mattocks, C., Lees, M., Ffrench-Constant, C. and Whittaker, J. (2001) Neurofibromatosis-Noonan Syndrome (NFNS): a molecular and clinical study. Journal of Medical Genetics, 38, pp.S66.

Baralle, D., Mattocks, C., Lees, M., Ffrench-Constant, C. and Whittaker, J. (2001) Neurofibromatosis-Noonan Syndrome (NFNS) - A molecular and clinical study. Journal of Medical Genetics, 38, pp.S66.

Baralle, D., Raponi, M. and Upadhyaya, M. (2006) RNA processing defects in genetic disease. Journal of Medical Genetics, 43, pp.S28.

Baralle, Diana (2010) Novel aspects of alternative splicing. FEBS Journal, 277, (4), 835. (doi:10.1111/j.1742-4658.2009.07518.x)

Baralle, Diana, Lucassen, Anneke and Buratti, Emanuele (2009) Missed threads. The impact of pre-mRNA splicing defects on clinical practice. Embo Reports, 10, (8), 810-816. (doi:10.1038/embor.2009.170)

Baralle, Diana, Mattocks, Chris, Kalidas, Kamini, Elmslie, Frances, Whittaker, Joanne, Lees, Melissa, Ragge, Nicola, Patton, Michael A., Winter, Robin M. and ffrench-Constant, Charles (2003) Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). American Journal of Medical Genetics Part A, 119A, (1), 1-8. (doi:10.1002/ajmg.a.20023)

Baralle, M., Baralle, D., De Conti, L., Mattocks, C., Whittaker, J., Knezevich, A., Ffrench-Constant, C. and Baralle, F.E. (2003) Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay. Journal of Medical Genetics, 40, (3), 220-222. (doi:10.1136/jmg.40.3.220)

Baralle, M., Baralle, D., De Conti, L., Mattocks, C., Whittaker, J., Knezevich, A., ffrench-Constant, C. and Baralle, F.E. (2003) Letter to JMG. Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay. Journal of Medical Genetics, 40, (3), 220-222. (doi:10.1136/jmg.40.3.220)

Baralle, Marco, Skoko, Natasa, Knezevich, Anna, De Conti, Laura, Motti, Dario, Bhuvanagiri, Madhuri, Baralle, Diana, Buratti, Emanuele and Baralle, Francisco E. (2006) NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region. FEBS Letters, 580, (18), 4449-4456. (doi:10.1016/j.febslet.2006.07.018)

Barber, J. (2004) Constitutional predisposition to mosaicism. Journal of Medical Genetics, 41, pp.S30.

Barber, J., Hollox, E.J. and Armour, J.A.L. (2001) Amplification of DEFB2 confirmed by MAPH in euchromatic variants of 8p23. Journal of Medical Genetics, 38, pp.S45.

Barber, J., Hollox, E.J. and Armour, J.A.L. (2001) Amplification of DEFB2 confirmed by MAPH in euchromatic variants of 8p23.1. Journal of Medical Genetics, 38, pp.S45.

Barber, J., Maloney, V., Thomas, N.S., Van Zyl, B., Bunyan, D., McCormick, A., Kumar, A. and Liehr, T. (2004) Imbalances of distal 8p: extent, parental origin, predisposition and clinical significance. Journal of Medical Genetics, 41, pp.S21.

Barber, J.C. (2005) Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. Journal of Medical Genetics, 42, (8), 609-629. (doi:10.1136/jmg.2004.026955)

Barber, J.C., Thomas, N.S., Collinson, M.N., Dennis, N.R., Liehr, T., Weise, A., Belitz, B., Pfeiffer, L., Kirchhoff, M., Krag-Olsen, B. and Lundsteen, C. (2005) Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences. European Journal of Human Genetics, 13, (3), 283-291. (doi:10.1038/sj.ejhg.5201267)

Barber, J.C.K. (2002) Transmitted imbalances and euchromatic variants. Journal of Medical Genetics, 39, pp.S31.

Barber, J.C.K. (2004) ECARUCA, DECIPHER and CAC: new resources to aid phenotype genotype correlations. Journal of Medical Genetics, 41, pp.S60.

Barber, J.C.K., Maloney, V.K., Huang, S., Bunyan, D.J., Cresswell, L., Kinning, E., Benson, A., Cheetham, T., Wyllie, J., Lynch, S.A., Zwolinski, S., Prescoft, L., Crow, Y., Morgan, R. and Hobson, E. (2007) 8p23.1 microduplication syndrome: a novel genomic condition with unexpected complexity revealed by array CGH. Journal of Medical Genetics, 44, pp.S21.

Barber, J.C.K., Thomas, N.S., Collinson, M.N., Dennis, N.R., Liehr, T., Weise, A., Belitz, B., Pfeiffer, L., Kirchhoff, M., Krag-Olsen, B. and Lundsteen, C. (2004) Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences. Journal of Medical Genetics, 41, S60-S60.

Barber, J.C.K., Thomas, N.S., Collinson, M.N., Dennis, N.R., Liehr, T., Weise, A., Belitz, B., Pfeiffer, L., Kirchhoff, M., Krag-Olsen, B. and Lundsteen, C. (2004) Segmental haplosufficiency: transmitted deletions of 2p12 have no apparent phenotypic consequences. Journal of Medical Genetics, 41, pp.S60.

Barber, J.C.K., Zhang, S., Friend, N., Collins, A.L., Maloney, V.K., Hastings, R., Farren, B., Barnicoat, A., Polityko, A.D., Rumyantseva, N.V., Starke, H. and Ye, S. (2006) Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effect. Cytogenetic and Genome Research, 114, (3-4), 351-358. (doi:10.1159/000094225)

Barber, John, Cockwell, A.E., Grant, E., Williams, S., Dunn, R. and Ogilvie, C.M. (2010) Is karyotyping couples experiencing recurrent miscarriage worth the cost? BJOG: An International Journal of Obstetrics & Gynaecology, 117, (7), 885-888. (doi:10.1111/j.1471-0528.2010.02566.x)

Barber, John C.K., Bunyan, Dave, Curtis, Merryl, Robinson, Denise, Morlot, Susanne, Dermitzel, Anette, Liehr, Thomas, Alves, Claudia, Trindade, Joana, Paramos, Ana I., Cooper, Clare, Ocraft, Kevin, Taylor, Emma-Jane and Maloney, Viv K. (2010) 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families. Molecular Cytogenetics, 3, (1)(doi:10.1186/1755-8166-3-3)

Barber, John C.K., Huang, Shuwen, Bateman, Mark S. and Collins, Amanda L. (2011) Transmitted deletions of medial 5p and learning difficulties; Does the cadherin cluster only become penetrant when flanking genes are deleted? American Journal of Medical Genetics Part A, 155, (11), 2807-2815. (doi:10.1002/ajmg.a.34241) (PMID:21965044)

Barber, John C.K., Maloney, Viv, Hollox, Edward J., Stuke-Sontheimer, Annegret, du Bois, Gabi, Daumiller, Eva, Klein-Vogler, Ute, Dufke, Andreas, Armour, John A.L. and Liehr, Thomas (2005) Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level. European Journal of Human Genetics, 13, (10), 1131-1136. (doi:10.1038/sj.ejhg.5201475)

Barber, K.E., Martineau, M., Harewood, L., Stewart, M., Cameron, E., Strefford, J.C., Rutherford, S., Allen, T.D., Broadfield, Z.J., Cheung, K.L., Harris, R.L., Jalali, G.R., Moorman, A.V., Robinson, H.M. and Harrison, C.J. (2004) Correspondence. Amplification of the ABL gene in T-cell acute lymphoblastic leukemia. Leukemia, 18, (6), 1153-1156. (doi:10.1038/sj.leu.2403357)

Barber, Kerry E., Ford, Anthony M., Harris, Rachel L., Harrison, Christine J. and Moorman, Anthony V. (2004) MLL translocations with concurrent 3΄ deletions: interpretation of FISH results. Genes, Chromosomes and Cancer, 41, (3), 266-271. (doi:10.1002/gcc.20082)

Barber, L.D., Howarth, M., Bowness, P. and Elliott, T. (2001) The quantity of naturally processed peptides stably bound by HLA-A*0201 is significantly reduced in the absence of tapasin. Tissue Antigens, 58, (6), 363-368. (doi:10.1034/j.1399-0039.2001.580604.x)

Barham, Guy and Clarke, Nicholas M.P. (2008) Genetic regulation of embryological limb development with relation to congenital limb deformity in humans. Journal of Children's Orthopaedics, 2, (1), 1-9. (doi:10.1007/s11832-008-0076-2)

Barker, D.J.P. (2003) The developmental origins of adult disease. European Journal of Epidemiology, 18, (8), 733-736. (doi:10.1023/A:1025388901248)

Barker, D.J.P. (2004) Developmental origins of adult health and disease. Journal of Epidemiology and Community Health, 58, (2), 114-115.

Barker, D.J.P. (2004) The developmental origins of adult disease. Journal of the American College of Nutrition, 23, (6 Suppl), 588S-595S.

Barry, Sean Pio, Lawrence, Kevin M., McCormick, James, Soond, Surinder M., Hubank, Mike, Eaton, Simon, Sivarajah, Ahila, Scarabelli, Tiziano M., Knight, Richard A., Thiemermann, Christoph, Latchman, David S., Townsend, Paul A. and Stephanou, Anastasis (2010) New targets of urocortin mediated cardioprotection. Journal of Molecular Endocrinology, 45, (2), 69-85. (doi:10.1677/JME-09-0148)

Barry, Seán P. and Townsend, Paul A. (2010) Chapter three - what causes a broken heart? molecular insights into heart failure. International Review of Cell and Molecular Biology, 284, 113-179. (doi:10.1016/S1937-6448(10)84003-1)

Barry, Seán P., Townsend, Paul A., Knight, Richard A., Scarabelli, Tiziano M., Latchman, David S. and Stephanou, Anastasis (2010) STAT3 modulates the DNA damage response pathway. International Journal of Experimental Pathology, 91, (6), 506-514. (doi:10.1111/j.1365-2613.2010.00734.x)

Barry, Seán P., Townsend, Paul A., Latchman, David S. and Stephanou, Anastasis (2007) Role of the JAK-STAT pathway in myocardial injury. Trends in Molecular Medicine, 13, (2), 82-89. (doi:10.1016/j.molmed.2006.12.002)

Barry, Seán P., Townsend, Paul A., McCormick, James, Knight, Richard A., Scarabelli, Tiziano M., Latchman, David S. and Stephanou, Anastasis (2009) STAT3 deletion sensitizes cells to oxidative stress. Biochemical and Biophysical Research Communications, 385, (3), 324-329. (doi:10.1016/j.bbrc.2009.05.051)

Barton, Sheila J., Koppelman, Gerard H., Vonk, Judith M., Browning, Claudia A., Nolte, Ilja M., Stewart, Ceri E., Bainbridge, Sue, Mutch, Stacey, Rose-Zerilli, Matthew J., Postma, Dirkje S., Maniatis, Nikolas, Henry, Amanda P., Hall, Ian P., Holgate, Stephen T., Tighe, Patrick, Holloway, John W. and Sayers, Ian (2009) PLAUR polymorphisms are associated with asthma, PLAUR levels, and lung function decline. The Journal of Allergy and Clinical Immunology, 123, (6), 1391-1400. (doi:10.1016/j.jaci.2009.03.014)

Bastie, J.N., Garcia, I., Terre, C., Cross, N.C., Mahon, F.X. and Castaigne, S. (2004) Lack of response to imatinib mesylate in a patient with accelerated phase myeloproliferative disorder with rearrangement of the platelet-derived growth factor receptor beta-gene. Haematologica, 89, (10), 1263-1264.

Bateman, Adrian C. and Howell, W. Martin (2004) Genetic polymorphism, the immune response and chronic pancreatitis. In, Johnson, C.D. (ed.) Pancreatic Disease: Basic Science and Clinical Management. London, UK, Springer, 306-318.

Bateman, Mark S., Mehta, Sarju G., Willatt, Lionel, Selkirk, Elizabeth, Bedwell, Clare, Zwolinski, Simon, Sparnon, Leeanne, Simonic, Ingrid, Abbott, Kristin and Barber, John C.K. (2010) A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect. American Journal of Medical Genetics Part A, 152A, (7), 1764-1769. (doi:10.1002/ajmg.a.33426)

Batten, Carrie A., Clarke, Ian N., Kempster, Sarah L., Oliver, Stefan L., Bridger, Janice C. and Lambden, Paul R. (2006) Characterization of a cross-reactive linear epitope in human genogroup I and bovine genogroup III norovirus capsid proteins. Virology, 356, (1-2), 179-187. (doi:10.1016/j.virol.2006.07.034) (PMID:16934306)

Bearpark, K. (2000) Learning and memory in genetic programming. University of Southampton, School of Engineering Sciences, Doctoral Thesis.

Beer, Phillip A., Jones, Amy V., Bench, Anthony J., Goday-Fernandez, Andrea, Boyd, ElaineM., Vaghela, Krishna J., Erber, Wendy N., Odeh, Bassam, Wright, Christine, McMullin, Mary Frances, Cullis, Jonathan, Huntly, Brian J.P., Harrison, Claire N., Cross, Nicholas C.P. and Green, Anthony R. (2009) Clonal diversity in the myeloproliferative neoplasms: independent origins of genetically distinct clones. British Journal of Haematology, 144, (6), 904-908. (doi:10.1111/j.1365-2141.2008.07560.x)

Beghé, B., Barton, S., Rorke, S., Peng, Q., Sayers, I., Gaunt, T., Keith, T.P., Clough, J.B., Holgate, S.T. and Holloway, J.W. (2003) Polymorphisms in the interleukin-4 and interleukin-4 receptor α chain genes confer susceptibility to asthma and atopy in a Caucasian population. Clinical and Experimental Allergy, 33, (8), 1111-1117. (doi:10.1046/j.1365-2222.2003.01731.x)

Beghé, B., Padoan, M., Moss, C.T., Barton, S.J., Holloway, J.W., Holgate, S.T., Howell, W.M. and Mapp, C.E. (2004) Lack of association of HLA class I genes and TNF α-308 polymorphism in toluene diisocyanate-induced asthma. Allergy, 59, (1), 61-64. (doi:10.1046/j.1398-9995.2003.00352.x)

Belo, Sérgio R.B., Lagher , Fabíola, Bonatto, Sandro J., Naliwaiko, Katya, Calder, Philip C., Nunes, Everson A. and Fernandes, Luiz C. (2010) Walker-256 tumor growth is inhibited by the independent or associative chronic ingestion of shark liver and fish oil: a response linked by the increment of peritoneal macrophages nitrite production in Wistar rats. Nutrition Research, 30, (11), 770-776. (doi:10.1016/j.nutres.2010.09.015)

Bench, Anthony J., Cross, Nicholas C., Huntly, Brian J.P., Nacheva, Elisabeth P. and Green, Anthony R. (2001) Myeloproliferative disorders. Best Practice and Research Clinical Haematology, 14, (3), 531-551. (doi:10.1053/beha.2001.0153)

Benito-Sanz, S., Gorbenko del Blanco, D., Huber, C., Thomas, N.S., Za-Carmona, M., Bunyan, D., Maloney, V., Argente, J., Cormier-Daire, V., Campos-Barros, A. and Heath, K.E. (2006) Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots. American Journal of Human Genetics, 79, (2), 409-414. (doi:10.1086/506390)

Benito-Sanz, Sara, Thomas, N. Simon, Huber, Céline, del Blanco, Darya Gorbenko, Aza-Carmona, Miriam, Crolla, John A., Maloney, Vivienne, Argente, Jesús, Campos-Barros, Ángel, Cormier-Daire, Valérie and Heath, Karen E. (2005) A novel class of pseudoautosomal region 1 deletions downstream of SHOX is associated with Léri-Weill dyschondrosteosis. American Journal of Human Genetics, 77, (4), 533-544. (doi:10.1086/449313)

Benko, Sabina, Fantes, Judy A., Amiel, Judy A., Kleinjan, Dirk-Jan, Thomas, Sophie, Ramsay, Jacqueline, Jamshidi, Negar, Essafi, Abdelkader, Heaney, Simon, Gordon, Christopher T., McBride, David, Golzio, Christelle, Fisher, Malcolm, Perry, Paul, Abadie, Véronique, Ayuso, Carmen, Holder-Espinasse, Muriel, Kilpatrick, Nicky, Lees, Melissa M., Picard, Arnaud, Temple, I. Karen, Thomas, Paul, Vazquez, Marie-Paule, Vekemans, Michel, Crollius, Hugues Roest, Hastie, Nicholas D., Munnich, Arnold, Etchevers, Heather C, Pelet, Anna, Farlie, Peter G., FitzPatrick, David R. and Lyonnet, Stanislas (2009) Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nature Genetics, 41, (3), 359-364. (doi:10.1038/ng.329)

Bennett, Claire E., Conway, Gerard S., Macpherson, James N., Jacobs, Patricia A. and Murray, Anna (2010) Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure. Human Reproduction, 25, (5), 1335-1338. (doi:10.1093/humrep/deq058)

Bennett, S.T and Lucassen, Anneke (1996) Identification of insulin gene minisatellites alleles. In, Burke, J.F. (ed.) PCR: Essential techniques. Oxford, GB, John Wiley and Sons, 32-33.

Bergann, Anna, Bamberg, Christian, Eder, Katja, Proquitte, Hans, Hartung, John P., Bollmann, Rainer and Kalache, Karim D. (2006) Mid-facial anthropometry in second-trimester fetuses with trisomy 21: a three-dimensional ultrasound study. Prenatal Diagnosis, 26, (2), 158-162. (doi:10.1002/pd.1362)

Bertram, Caroline E. and Hanson, Mark A. (2001) Animal models and programming of the metabolic syndrome. Type 2 diabetes. British Medical Bulletin, 60, 103-121.

Beyzade, Seyyare, Zhang, Shaoli, Wong, Yuk-ki, Day, Ian N.M., Eriksson, Per and Ye, Shu (2003) Influences of matrix metalloproteinase-3 gene variation on extent of coronary atherosclerosis and risk of myocardial infarction. Journal of the American College of Cardiology, 41, (12), 2130-2137. (doi:10.1016/S0735-1097(03)00482-0)

Bhandari, Pradeep, Bateman, Adrian C., Mehta, Raj L., Stacey, Bernard S.F., Johnson, Penny, Cree, Ian A., Di Nicolantonio, Federica and Patel, Praful (2006) Prognostic significance of cyclooxygenase-2 (COX-2) expression in patients with surgically resectable adenocarcinoma of the oesophagus. BMC Cancer, 6, (Article no. 134), 9pp.. (doi:10.1186/1471-2407-6-134)

Bianchi, F., Raponi, M., Piva, F., Viel, A., Bearzi, I., Galizia, E., Bracci, R., Belvederesi, L., Loretelli, C., Brugiati, C., Corradini, F., Baralle, D. and Cellerino, R. (2011) An intronic mutation in MLH1 associated with familial colon and breast cancer. Familial Cancer, 10, (1), 27-35. (doi:10.1007/s10689-010-9371-4) (PMID:20717847)

Bicknell, Louise S., Bongers, Ernie M.H.F., Leitch, Andrea, Brown, Stephen, Schoots, Jeroen, Harley, Margaret E., Aftimos, Salim, Al-Aama, Jumana Y., Bober, Michael, Brown, Paul A.J., van Bokhoven, Hans, Dean, John, Edrees, Alaa Y., Feingold, Murray, Fryer, Alan, Hoefsloot, Lies H., Kau, Nikolaus, Knoers, Nine V.A.M., MacKenzie, James, Opitz, John M., Sarda, Pierre, Ross, Alison, Temple, I. Karen, Toutain, Annick, Wise, Carol A., Wright, Michael and Jackson, Andrew P. (2011) Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nature Genetics, 43, (4), 356-359. (doi:10.1038/ng.775) (PMID:21358632)

Biesecker, Leslie G., Aase, Jon M., Clericuzio, Carol, Gurrieri, Fiorella, Temple, I. Karen and Toriello, Helga (2009) Elements of morphology: standard terminology for the hands and feet. American Journal of Medical Genetics Part A, 149A, (1), 93-127. (doi:10.1002/ajmg.a.32596)

Biggs, Manus J., Richards, R. Geoff, Gadegaard, Nikolaj, Wilkinson, Chris D.W., Oreffo, Richard O. and Dalby, Matthew J. (2009) The use of nanoscale topography to modulate the dynamics of adhesion formation in primary osteoblasts and ERK/MAPK signalling in STRO-1+enriched skeletal stem cells. Biomaterials, 30, (28), 5094-5103. (doi:10.1016/j.biomaterials.2009.05.049) (PMID:19539986)

Birnberg, Tal, Bar-On, Liat, Sapoznikov, Anita, Caton, Michele L., Cervantes-Barragán, Luisa, Makia, Divine, Krautgamer, Rita, Brenner, Ori, Ludewig, Burkhard, Brockschnieder, Damian, Riethmacher, Dieter, Reizis, Boris and Jung, Steffan (2008) Lack of conventional dendritic cells is compatible with normal development and T cell homeostasis, but causes myeloid proliferative syndrome. Immunity, 29, (6), 986-997. (doi:10.1016/j.immuni.2008.10.012) (PMID:19062318)

Birts, C N, Bergman, L M and Blaydes, J P (2011) CtBPs promote mitotic fidelity through their activities in the cell nucleus. Oncogene, 30, 1271-1280. (doi:10.1038/onc.2010.507) (PMID:21057548)

Bishop, Dorothy V.M., Jacobs, Patricia A., Lachlan, Katherine, Wellesley, Diana, Barnicoat, Angela, Boyd, Patricia A., Fryer, Alan, Middlemiss, Prisca, Smithsom, Sarah, Metcalfe, Kay, Shears, Deborah, Leggett, Victoria, Natiion, Kate and Scerif, Gaia (2011) Autism, language and communication in children with sex chromosome trisomies. Archives of Disease in Childhood(doi:10.1136/adc.2009.179747)

Bjornsdottir, Unnur S., Holgate, Stephen T., Reddy, Padmalatha S., Hill, Andrew A., McKee, Charlotte M., Csimma, Cristina I., Weaver, Amy A., Legault, Holly M., Small, Clayton G., Ramsey, Renee C., Ellis, Debra K., Burke, Conor M., Thompson, Philip J., Howarth, Peter H., Wardlaw, Andrew J., Bardin, Phillip G., Bernstein, David I., Irving, Louis B., Chupp, Geoffrey L., Bensch, George W., Bensch, Gregory W., Stahlman, Jon E., Karetzky, Monroe, Baker, James, Miller, Rachel L., Goodman, Brad H., Raible, Donald G., Goldman, Samuel J., Miller, Douglas K., Ryan, John L., Dorner, Andrew J., Immermann, Frederick W. and O'Toole, Margot (2011) Pathways activated during human asthma exacerbation as revealed by gene expression patterns in blood. PloS One, 6, (7), e21902-[19pp]. (doi:10.1371/journal.pone.0021902) (PMID:3136489)

Black, S., Teixeira, A.S., Loh, A.X.W., Vinall, L., Holloway, J.W., Hardy, R. and Swallow, D.M. (2009) Contribution of functional variation in the IL13 gene to allergy, hay fever and asthma in the NSHD longitudinal 1946 birth cohort. Allergy, 64, (8), 1172-1178. (doi:10.1111/j.1398-9995.2009.01988.x)

Blackney, Michael James (2010) Characterising the Drosophila extracellular superoxide Dismutase gene. University of Southampton, School of Biological Sciences, Doctoral Thesis, 270pp.

Bleeck, S., Patterson, R.D. and Winter, I.M. (2002) Using genetic algorithms to find the most effective stimulus for sensory neurons. In, British Society of Audiology Short Papers Meeting on Experimental Studies of Hearing and Deafness, Sheffield, UK, 16 - 17 Sep 2002.

Bleeck, S., Patterson, R.D. and Winter, I.M. (2003) Using genetic algorithms to find the most effective stimulus for sensory Neurons. Journal of Neuroscience Methods, 125, (1-2), 73-82. (doi:10.1016/S0165-0270(03)00040-2)

Bliek, Jet, Alders, Marielle, Maas, Saskia M., Oostra, Roelof-Jan, Mackay, Deborah M., van der Lip, Karin, Callaway, Johnatan L., Brooks, Alice, van 't Padje, Sandra, Westerveld, Andries, Leschot, Nico J. and Mannens, Marcel M.A.M. (2009) Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells. European Journal of Human Genetics, 17, (12), 1625-1634. (doi:10.1038/ejhg.2009.77)

Bliek, Jet, Verde, Gaetano, Callaway, Jonathan, Maas, Saskia M., De Crescenzo, Agostina, Sparago, Angela, Cerrato, Flavia, Russo, Silvia, Ferraiuolo, Serena, Rinaldi, Maria Michela, Fischetto, Rita, Lalatta, Faustina, Giordano, Lucio, Ferrari, Paolo, Cubellis, Mara Vittoria, Larizza, Lidia, Temple, I. Karen, Mannens, Marcel M.A.M., Mackay, Deborah J.G. and Riccio, Andrea (2009) Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. European Journal of Human Genetics, 17, (5), 611-619. (doi:10.1038/ejhg.2008.233)

Blyth, M., Foulds, N., Turner, C. and Bunyan, D. (2008) Severe Marfan syndrome due to FBN1 exon deletions. American Journal of Medical Genetics Part A, 146A, (10), 1320-1324. (doi:10.1002/ajmg.a.32229)

Blyth, M., Raponi, M., Treacy, R., Raymond, F.L., Yates, J.R. and Baralle, D. (2010) Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation. Journal of Neurology, Neurosurgery & Psychiatry, 81, (3), 350-352. (doi:10.1136/jnnp.2009.179689)

Blyth, Moira and Baralle, Diana (2011) Anophthalmia in fronto–facial–nasal dysplasia. Clinical Dysmorphology, 20, (2), 73-74. (doi:10.1097/MCD.0b013e328343515c) (PMID:21317770)

Blyth, Moira, Beal, Sarah, Huang, Shuwen, Crolla, John and Foulds, Nicola (2008) A novel 2.43 Mb deletion of 7q11.22-q11.23. American Journal of Medical Genetics Part A, 146A, (24), 3206-3210. (doi:10.1002/ajmg.a.32584)

Blyth, Moira, Huang, Shuwen, Maloney, Viv, Crolla, John A. and Temple, I.Karen (2008) A 2.3Mb deletion of 17q24.2-q24.3 associated with ‘Carney Complex plus’. European Journal of Medical Genetics, 51, (6), 672-678. (doi:10.1016/ejmg.2008.09.002)

Blyth, Moira and Lachlan, Katherine (2010) Amniotic bands in paternal half-siblings. Clinical Dysmorphology, 19, (2), 62-64. (doi:10.1097/MCD.0b013e3283365a6a)

Bodamyali, Tulin, Kanczler, Janos M., Millar, Tim M., Stevens, Cliff R. and Blake , David R. (2003) Free radicals in rheumatoid arthritis: Mediators and modulators. In, Packer, Lester, Podda, Maurizio and Fuchs, Jürgen (eds.) Redox-Genome Interactions in Health and Disease. London, GB, Chemical Rubber Company Press, 591-611. (Oxidative Stress and Disease).

Bolton, P.F., Rijsdijk, F., Craig, E., Veltman, M., Thompson, R., Thomas, S., Roberts, S. and Curran, S.R. (2005) Chromosome 15 abnormalities and autistic symptomatology: case - control investigations. In, DeLisi, Lynn E and DePalma, Gail (eds.) Abstracts of the XIII World Congress on Psychiatric Genetics 2005. XIII World Congress on Psychiatric Genetics 2005 , Wiley-Liss, p.S64. (doi:10.1002/ajmg.b.30233)

Bolton, Patrick F., Veltman, Marijcke W.M., Weisblatt, Emma, Holmes, Joanne R., Thomas, Simon N., Youings, Sheila A., Thompson, Russell J., Roberts, Sian E., Dennis, Nicolas R., Browne, Caroline E., Goodson, Sally, Moore, Vanessa and Brown, Josie (2004) Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders. Psychiatric Genetics, 14, (3), 131-137.

Bolton, Patrick Farrar, Dennis, N.R., Browne, C.E., Thomas, N.S., Veltman, M.W.M., Thompson, R.J. and Jacobs, P. (2001) The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders. American Journal of Medical Genetics, 105, (8), 675-685. (doi:10.1002/ajmg.1551)

Bond, Jacquelyn, Roberts, Emma, Springell, Kelly, Lizarraga, Sophia, Scott, Sheila, Higgins, Julie, Hampshire, Daniel J., Morrison, Ewan E., Leal, G briella F., Silva, Elias O., Costa, Suzana M.R., Baralle, Diana, Raponi, Michela, Karbani, Gulshan, Rashid, Yasmin, Jafri, Hussain, Bennett, Christopher, Corry, Peter, Walsh, Christopher A. and Woods, C. Geoffrey (2005) A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nature Genetics, 37, (4), 353-355. (doi:10.1038/ng1539)

Borzani, I., Tola, M.R., Caniatti, L., Collins, A., De Santis, G., Luiselli, D., Mamolini, E. and Scapoli, C. (2010) The interleukin-1 cluster gene region is associated with multiple sclerosis in an Italian Caucasian population. European Journal of Neurology, 17, (7), 930-938. (doi:10.1111/j.1468-1331.2010.02952.x) (PMID:20192980)

Bouamaied, Imenne, Fendt, Leslie-Anne, Wiesner, Markus, Häussinger, Daniel, Amiot, Nicolas, Thöni, Sandra and Stulz, Eugen (2006) Tetranucleotides as a scaffold for diporphyrin arrays. Pure and Applied Chemistry, 78, (11), 2003-2014. (doi:10.1351/pac200678112003)

Boxmeer, Jolanda C., Smit, Marji, Utomo, Elaine, Romijn, Johannes C., Eijkemans, Marinus J.C., Lindemans, Jan, Laven, Joop S.E., Macklon, Nick S., Steegers, Eric A.P. and Steegers-Theunissen, Regine P.M. (2009) Low folate in seminal plasma is associated with increased sperm DNA damage. Fertility and Sterility, 92, (2), 548-556. (doi:10.1016/j.fertnstert.2008.06.010) (PMID:18722602)

Boyd, P.A., Armstrong, B., Dolk, H., Botting, B., Pattenden, S., Abramsky, L., Rankin, J., Vrijheid, M. and Wellesley, D. (2005) Congenital anomaly surveillance in England-ascertainment deficiencies in the national system. British Medical Journal, 330, (7481), 1-5. (doi: 10.1136/bmj.38300.665301.3A)

Boyd, Patricia A., Tonks, Ann M., Rankin, Judith, Rounding, Catherine, Wellesley, Dianna and Draper, Elizabeth S. (2011) Monitoring the prenatal detection of structural fetal congenital anomalies in England and Wales: register-based study. Journal of Medical Screening, 18, (1), 2-7. (doi:10.1258/jms.2011.010139) (PMID:21536809)

Branford, Susan, Fletcher, Linda, Cross, Nicholas C.P., Müller, Martin C., Hochhaus, Andreas, Kim, Dong-Wook, Radich, Jerald P., Saglio, Giuseppe, Pane, Fabrizio, Kamel-Reid, Suzanne, Wang, Y. Lynn, Press, Richard D., Lynch, Kevin, Rudzki, Zbigniew, Goldman, John M. and Hughes, Timothy (2008) Desirable performance characteristics for BCR-ABL measurement on an international reporting scale to allow consistent interpretation of individual patient response and comparison of response rates between clinical trials. Blood, 112, (8), 3330-3338. (doi:10.1182/blood-2008-04-150680)

Bremond-Gignac, D., Gerard-Blanluet, M., Copin, H., Bitoun, P., Baumann, C., Crolla, J.A., Benzacken, B. and Verloes, A. (2005) Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins. American Journal of Medical Genetics Part A, 134, (4), 422-425. (doi:10.1002/ajmg.a.30646)

Breton, Sylvie, Hammar, Katherine, Smith, Peter J.S. and Brown, Dennis (1998) Proton secretion in the male reproductive tract: involvement of Cl--independent HCO-3 transport. AJP Cell Physiology, 275, (4), C1134-C1142. (PMID:9755067)

Brison, D.R., Houghton, F.D., Falconer, D., Roberts, S.A., Hawkhead, J., Humpherson, P.G., Lieberman, B.A. and Leese, H.J. (2004) Identification of viable embryos in IVF by non-invasive measurement of amino acid turnover. Human Reproduction, 19, (10), 2319-2324. (doi:10.1093/humrep/deh409)

Bristow, I.R. and Theodorou, D. (2010) Olmsted syndrome: a rare cause of palmo-plantar keratoderma. Podiatry Now, 13, (10), 25-27.

Brito-Babapulle, Finella and Cross, Nicholas C.P. (2007) Redefinition of hypereosinophilic disorders based on an analysis of 28 cases of FIP1L1-PDGFRA negative persistent unexplained eosinophilia (PUE) with eosinophil end-organ damage (EEOD). Blood, 110, (11), p.972A.

Broadfield, Z., Martineau, M., Moorman, A.V., Wright, S.L., Bown, N. and Harrison, C.J. (2006) PAX5-ETV6 fusion in acute lymphoblastic leukaemia does not define the dic(9;12). Journal of Medical Genetics, 43, pp.S20.

Brockschnieder, D., Lappe-Siefke, C., Goebbels, S., Boesl, M.R., Nave, K.A. and Riethmacher, D. (2004) Cell depletion due to diphtheria toxin fragment A after Cre-mediated recombination. Molecular and Cellular Biology, 24, (17), 7636-7642. (doi:10.1128/MCB.24.17.7636-7642.2004)

Broekhuizen, Roelinka, Grimble, Robert F., Howell, W. Martin, Shale, Dennis J., Creutzberg, Eva C., Wouters, Emiel F. and Schols, Annemie M. (2005) Pulmonary cachexia, systemic inflammatory profile, and the interleukin 1ß -511 single nucleotide polymorphism. American Journal of Clinical Nutrition, 82, (5), 1059-1064.

Brookes, K.J., Neale, B., Xu, X., Thapar, A., Gill, M., Langley, K., Hawi, Z., Mill, J., Taylor, E., Franke, B., Chen, W., Ebstein, R., Buitelaar, J., Banaschewski, T., Sonuga-Barke, E., Eisenberg, J., Manor, I., Miranda, A., Oades, R.D., Roeyers, H., Rothenberger, A., Sergeant, J., Steinhausen, H.C., Faraone, S.V. and Asherson, P. (2008) Differential dopamine receptor D4 allele association with ADHD dependent of proband season of birth. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 147B, (1), 94-99. (doi:10.1002/ajmg.b.30562)

Brookes, K.J., Xu, X., Anney, R., Franke, B., Zhou, K., Chen, Wai, Banaschewski, T., Buitelaar, J., Ebstein, R., Eisenberg, J., Gill, M., Miranda, A., Oades, R.D., Roeyers, H., Rothenberger, A., Sergeant, J., Sonuga-Barke, E., Steinhausen, H.-C., Taylor, E., Faraone, S.V. and Asherson, P. (2008) Association of ADHD with genetic variants in the 5'-region of the dopamine transporter gene: evidence for allelic heterogeneity. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics(doi:10.1002/ajmg.b.30782)

Brouillard, P., Ghassibé, M., Penington, A., Boon, L.M., Dompmartin, A., Temple, I.K., Cordisco, M., Adams, D., Piette, F., Harper, J.I., Syed, S., Boralevi, F., Taïeb, A., Danda, S., Baselga, E., Enjolras, O., Mulliken, J.B. and Vikkula, M. (2005) Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect. Journal of Medical Genetics, 42, (2), 13. (doi:10.1136/jmg.2004.024174)

Brown, Lynda J., McKeen, Catherine, Solinas, Antonio, Mellor, John M., Nicol, Jamie T.G., Thelwell, Nicky and Brown, Tom (2001) Duplex Scorpion primers in SNP analysis and FRET applications. Nucleic Acids Research, 29, (20), 1-9. (doi:10.1093/nar/29.20.e96)

Brown, Nicholas M., Rachwal, Phillip A., Brown, Tom and Fox, Keith R. (2005) Exceptionally slow kinetics of the intramolecular quadruplex formed by the Oxytricha telomeric repeat. Organic & Biomolecular Chemistry, 3, (22), 4153-4157. (doi: 10.1039/b511706b)

Browne, C., Dennis, N.R., Temple, I.K. and Joyce, C.A. (2001) High resolution cytogenetic analysis: a more cost effective approach to subtelomere screening? Journal of Medical Genetics, 38, pp.S16.

Browne, C., Strike, P. and Jacobs, P.A. (2002) X chromosome loss and ageing. Journal of Medical Genetics, 39, p.S30.

Bruce, Kimberley D., Stokes, Aaron, Patel, Nikesh R., Hyde, Kerry, Sadek, Khaled H., Hanson, Mark A., Byrne, Christopher D. and Cagampang, Felino R. (2011) Identification of robust cardiac reference genes in a mouse model of cardiometabolic disease. Journal of Clinical and Experimental Cardiology, 10, (2)(doi:10.4172/2155-9880.1000161)

Brümmendorf, Tim H., Ersöz, InciI, Hartmann, Ulrike, Bartolovic, Kerol, Balabanov, Stefan, Wahl, Alexandra, Paschka, Peter, Kreil, Sebastian, Lahaye, Tanja, Berger, Ute, Gschaidmeier, Harald, Bokemeyer, Carsten, Hehlmann, Rüdiger, Dietz, Klaus, Lansdorp, Peter M., Kanz, Lothar and Hochhaus, Andreas (2003) Telomere length in peripheral blood granulocytes reflects response to treatment with imatinib in patients with chronic myeloid leukemia. Blood, 101, (1), 375.

Bugge, Merete, Collins, Andrew, Hertz, Jens Michael, Eiberg, Hans, Lundsteen, Claes, Brandt, Carsten A., Bak, Mads, Hansen, Claus, deLozier, Celia D., Lespinasse, James, Tranebjaerg, Lisbeth, Hahnemann, Johanne M.D., Rasmussen, Kirsten, Bruun-Petersen, Gert, Duprez, Laurence, Tommerup, Niels and Petersen, Michael B. (2007) Non-disjunction of chromosome 13. Human Molecular Genetics, 16, (16), 2004-2010. (doi:10.1093/hmg/ddm148)

Bullman, H., Lever, M., Robinson, D.O., Mackay, D.J., Holder, S.E. and Wakeling, E.L. (2008) Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome. Journal of Medical Genetics, 45, (6), 396-399. (doi:10.1136/jmg.2007.057059)

Bulpitt, Elizabeth A., Baynes, Caroline, Dunning, Alison M., Evans, Philip R., Easton, Douglas F., Ponder, Bruce A J., Gibbs, Roz and Howell, W. Martin (2004) Investigation of interleukin-10 and vascular endothelial growth factor single nucleotide polymorphisms in predisposition to breast cancer. Genes and immunity, 5, (Supplement S1), p.S53. (doi:10.1038/sj.gene.6364085)

Bunting, Karen A., Roe, S. Mark, Headley, Anthony, Brown, Tom, Savva, Renos and Pearl, Laurence H. (2003) Crystal structure of the Escherichia coli dcm very-short-patch DNA repair endonuclease bound to its reaction product-site in a DNA superhelix. Nucleic Acids Research, 31, (6), 1633-1639. (doi:10.1093/nar/gkg273)

Bunyan, D., Brown, T., Wycherley, R., Score, J., Harvey, J.F. and Cross, N.C.P. (2004) MLPA-based point mutation analysis of the FBN1 gene in Marfan syndrome patients. Journal of Medical Genetics, 41, pp.S75.

Bunyan, D., Thomas, N.S., Cross, N.C.P. and Harvey, J.F. (2003) Importance of mutation screening in 'false-positive' MLPA cases. Journal of Medical Genetics, 40, pp.S80.

Bunyan, D.J., Eccles, D.M., Sillibourne, J., Wilkins, E., Thomas, N. Simon, Shea-Simonds, J., Duncan, P.J., Curtis, C.E., Robinson, D.O., Harvey, J.F. and Cross, N.C.P. (2004) Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. British Journal of Cancer, 91, (6), 1155-1159. (doi:10.1038/sj.bjc.6602121)

Bunyan, David J., Brown, T., Wycherley, R., Score, J. C., Harvey, J. F. and Cross, N. C. P. (2004) MLPA-based point mutation analysis of the FBN1 gene in Marfan syndrome. Journal of Medical Genetics, 41, (S75), 1-1.

Bunyan, David J. and Robinson, David O. (2008) Multiple de novo mutations in the MECP2 gene. Genetic Testing, 12, (3), 373-375. (doi:10.1089/gte.2008.0012)

Bunyan, David J., Skinner, Alison C., Ashton, Emma J., Sillibourne, Julie, Brown, Tom, Collins, Amanda L., Cross, Nicholas C.P., Harvey, John F. and Robinson, David O. (2007) Simultaneous MLPA-based multiplex point mutation and deletion analysis of the Dystrophin gene. Molecular Biotechnology, 35, (2), 135-140. (doi:10.1007/BF02686108)

Buratti, E., Baralle, M., De Conti, L., Baralle, D., Romano, M., Ayala, Y.M. and Baralle, F.E. (2004) hnRNP H binding at the 5′ splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHβ genes. Nucleic Acids Research, 32, (14), 4224-4236. (doi:10.1093/nar/gkh752)

Buratti, Emanuele and Baralle, Diana (2010) Novel roles of U1 snRNP in alternative splicing regulation. RNA Biology, 7, (4), 412-419. (doi:10.4161/rna.7.4.12153) (PMID:20523112)

Buratti, Emanuele, Chivers, Martin, Hwang, Gyulin and Vorechovsky, Igor (2011) DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites. Nucleic Acids Research, 39, (Supplement 1), D86-D91. (doi:10.1093/nar/gkq887) (PMID:20929868)

Burdge, G.C., Slater-Jefferies, J.L., Hanson, M.A. and Lillycrop, K.A. (2007) mRNA expression of genes which regulate energy balance in liver, muscle and adipose tissue in male offspring of rats fed diets differing in protein and folic acid contents during pregnancy. Early Human Development, 83, (Supplement 1), S96-S97. (doi:10.1016/S0378-3782(07)70221-9)

Burdge, G.C., Slater-Jefferies, J.L., Hanson, M.A. and Lillycrop, K.A. (2007) Differences in protein and folic acid intake in pregnant rats induce sex-specific changes to the epigenetic regulation of hepatic genes in the adult offspring. Early Human Development, 83, (Supplement 1), pp.S97. (doi:10.1016/S0378-3782(07)70222-0)

Burdge, Graham C., Lillycrop, Karen A. and Jackson, Alan A. (2009) Nutrition in early life, and risk of cancer and metabolic disease: alternative endings in an epigenetic tale? British Journal of Nutrition, 101, (5), 619-630. (doi:10.1017/S0007114508145883)

Burdge, Graham C., Lillycrop, Karen A., Phillips, Emma S., Slater-Jefferies, Joanne L., Jackson, Alan A. and Hanson, Mark A. (2009) Folic acid supplementation during the juvenile-pubertal period in rats modifies the phenotype and epigenotype induced by prenatal nutrition. Journal of Nutrition, 139, (6), 1054-1060. (doi:10.3945/jn.109.104653)

Burdge, Graham C., Slater-Jefferies, Jo, Torrens, Christopher, Phillips, Emma S., Hanson, Mark A. and Lillycrop, Karen A. (2007) Dietary protein restriction of pregnant rats in the F0 generation induces altered methylation of hepatic gene promoters in the adult male offspring in the F1 and F2 generations. British Journal of Nutrition, 97, (3), 435-439. (doi:10.1017/S0007114507352392)

Burkart, Kristin M., Barton, Sheila J., Holloway, John W., Yang, Ian A., Cakebread, Julie A., Cruikshank, William, Little, Frederic, Jin, Xiaoyi, Farrer, Lindsay A., Clough, Joanne B., Keith, Tim P., Holgate, Stephen, Center, David M. and O'Connor, George T. (2006) Association of asthma with a functional promoter polymorphism in the IL16 gene. Journal of Allergy and Clinical Immunology, 117, (1), 86-91. (doi:10.1016/j.jaci.2005.10.011)

Burke, G., Hammans, S., Arunachalam, R. and Beeson, D. (2009) A treatable muscle disease. Practical Neurology, 9, (4), 233-236. (doi:10.1136/jnnp.2009.181966)

Burns, Chris J., Minger, Stephen L., Hall, Sara, Milne, Helen, Ramracheya, Reshma D., Evans, Nicholas D., Persaud, Shanta J. and Jones, Peter M. (2005) The in vitro differentiation of rat neural stem cells into an insulin-expressing phenotype. Biochemical and Biophysical Research Communications, 326, (3), 570-577. (doi:10.1016/j.bbrc.2004.11.062) (PMID:15596137)

Burns, Jonathan R., Zekonyte, Jurgita, Siligardi, Giuliano, Hussain, Rohanah and Stulz, Eugen (2011) Directed formation of DNA nanoarrays through orthogonal self-assembly. Molecules, 16, (6), 4912-4922. (doi:10.3390/molecules16064912) (PMID:21677604)

Burns, Jorge S., Blaydes, Jeremy P., Wright, Pat A., Lemoine, Louise, Bond, Jane A., Williams, E. Dillwyn and Wynford-Thomas, D. (1992) Stepwise transformation of primary thyroid epithelial cells by a mutant Ha-ras oncogene: an in vitro model of tumor progression. Molecular Carcinogenesis, 6, (2), 129-139. (doi:10.1002/mc.2940060208)

Bush, Andrew, Chodhari, Rahul, Collins, Nicola F., Copeland, Fiona, Hall, Pippa, Harcourt, Jonny, Hariri, Mohamed, Hogg, Claire, Lucas, Jane, Mitchison, Hannah M., O'Callaghan, Chriatopher and Phillips, Gill (2007) Primary ciliary dyskinesia: current state of the art. Archives of Disease in Childhood, 92, (12), 1136-1140. (doi:10.1136/adc.2006.096958)

Butterworth, Jeffrey R., Cooper, Brian T., Rosenberg, William M., Purkiss, Michael, Jobson, Shirley, Hathaway, Mark, Briggs, David, Howell, W. Martin, Wood, Gordon M., Adams, David H. and Iqbal, Tariq H. (2002) The role of hemochromatosis susceptibility gene mutations in protecting against iron deficiency in celiac disease. Gastroenterology, 123, (2), 444-449. (doi:10.1053/gast.2002.34778)

Böhm, Markus, Wolff, Ilka, Scholzen, Thomas E., Robinson, Samantha J., Healy, Eugene, Luger, Thomas A., Schwarz, Thomas and Schwarz, Agatha (2005) α-Melanocyte-stimulating hormone protects from ultraviolet radiation-induced apoptosis and DNA damage. The Journal of Biological Chemistry, 280, (7), 5795-5802. (doi:10.1074/jbc.M406334200)

Cabanas, E.D., Boyle, T., Browne, C. and Barber, J. (2003) Two new transmitted imbalances without apparent phenotypic effect. Journal of Medical Genetics, 40, pp.S56.

Cakebread, Julie A., Haitchi, H.-M., Holloway, John W., Powell, Robert M., Keith, Tim, Davies, Donna E. and Holgate, Stephen T. (2004) The role of ADAM33 in the pathogenesis of asthma. Springer Seminars in Immunopathology, 25, (3-4), 361-375. (doi:10.1007/s00281-003-0153-z)

Calder, P. C., Grimble, R. F. and Howell, W. M. (2002) Gene polymorphisms, inflammatory diseases and cancer. Proceedings of the Nutrition Society, 61, (4), 447-456. (doi:10.1079/PNS2002186)

Calder, P.C. (2002) Fatty acids and gene expression related to inflammation. Inflammation in Health Disease. Clinical Nutrition: Early Intervention. Nestle Nutrition Workshop Series. Clinical & Performance programme, 7, 19-40. (doi:10.1159/000067510)

Calder, P.C. (2007) Efectos antiinflamatorios y de establizacion de la placa de atheroma de los acidos grasos amega-3. Medicina Clinica Monografias, 8, (3), 25-30.

Calder, Philip C. (2006) Long-chain polyunsaturated fatty acids and inflammation. Scandinavian Journal of Food & Nutrition, 50, (Supplement 2), 54-61. (doi:10.1080/17482970601066389)

Callaghan, M.J., Rockett, K., Banner, C., Haralambous, E., Betts, H., Faust, S., Maiden, M.C.J., Kroll, J. S., Levin, M., Kwiatkowski, D.P. and Pollard, A.J. (2008) Haplotypic diversity in human CEACAM genes: effects on susceptibility to meningococcal disease. Genes and Immunity, 9, (1), 30-37. (doi:10.1038/sj.gene.6364442) (PMID:17960155)

Campbell, C., Barber, J.C.K., Latif, G., Sullivan, C.M. and Waters, C.S. (2003) The phenotypic effect of the abnormal cell line in six patients showing mosaicism for a structural chromosome abnormality. Journal of Medical Genetics, 40, pp.S52.

Campbell, Ian G., Allen, James and Eccles, Diana M. (2003) Prohibitin 3' untranslated region polymorphism and breast cancer risk. Cancer Epidemiology Biomarkers & Prevention, 12, 1273-1274.

Canavez, Flavio, Young, Neil T., Guethlein, Lisbeth A., Rajalingam, Raja, Khakoo, Salim I., Shum, Benny P. and Parham, Peter (2001) Comparison of chimpanzee and human leukocyte Ig-like receptor genes reveals framework and rapidly evolving genes. Journal of Immunology, 167, (10), 5786-5794.

Carayannopoulos, M.O., Potter, K. N., Li, Yong, Natvig, J. B. and Capra, J. D. (2000) Evidence that human immunoglobulin M rheumatoid factors can Be derived from the natural autoantibody pool and undergo an antigen driven immune response in which somatically mutated rheumatoid factors have lower affinities for immunoglobulin G Fc than their germline counterparts. Scandinavian Journal of Immunology, 51, (4), 327-36.

Cariolou, Marios A., Christodoulides, Michael, Manoli, Panayiotis, Kokkofitou, Avgousta and Tsambaos, Dionysios (1996) Novel trinucleotide deletion in Fabry's disease. Human Genetics, 97, (4), 468-470. (doi:10.1007/BF02267068) (PMID:8834244)

Carramolino, Laura, Fuentes, Joana, García-Andrés, Clara, Azcoitia, Valeria, Riethmacher, Dieter and Torres, Miguel (2010) Platelets play an essential role in separating the blood and lymphatic vasculatures during embryonic angiogenesis. Circulation Research, 106, (7), 1197-1201. (doi:10.1161/CIRCRESAHA.110.218073)

Carroll, Christopher J., Suleman, Naushaad, Davidson, Sean M., Faulkes, David J., Diss, James K., Knight, Richard, Stephanou, Anastasis, Latchman, David S. and Townsend, Paul A. (2011) Transgenic overexpression of HSP56 does not result in cardiac hypertrophy nor protect from ischaemia/reperfusion injury. International Journal of Biochemistry & Cell Biology, 43, (1), 74-79. (doi:10.1016/j.biocel.2010.09.020) (PMID:20932935)

Carroll, Michael, Levasseur, Mark, Wood, Chris, Whitaker, Michael, Jones, Keith T. and McDougall, Alex (2003) Exploring the mechanism of action of the sperm-triggered calcium-wave pacemaker in ascidian zygotes. Journal of Cell Science, 116, (24), 4997-5004. (doi:10.1242/10.1242/jcs.00846)

Carter, M., Ross, F.M., Nicholson, J.C., Allibone, R., Balaji, V., Crolla, J.A., Gilbertson, R.J., Perry, R.H., Walker, D.A. and Ellison, D.W. (2001) Analysis of ependymomas using comparative genomic hybridisation. British Journal of Cancer, 85, (S1), p.108. (doi:10.1054/bjoc.2001.1918)

Case, M., Matheson, E., Minto, L., Hassan, R., Harrison, C., Bown, N., Bailey, S., Vormoor, J., Hall, A. and Irving, J. (2008) Somatic mutation of genes impacting on the RAS-RAF-MEK-ERK pathway is the most common genetic abnormality in childhood acute lymphoblastic leukaemia, is implicated in disease progression and provides a rationale for therapeutic targeting. British Journal of Haematology, 141, (s1), p.5. (doi:10.1111/j.1365-2141.2008.07061.x)

Castori, Marco, Barboni, Luanna, Duncan, Phillipa J., Paradisi, Mauro, Laino, Luigi, Bernardo, Carmelilia, Robinson, David O. and Grammatico, Paolo (2009) Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6. American Journal of Medical Genetics Part A, 149A, (8), 1768-1772. (doi:10.1002/ajmg.a.32960)

Cawood, A.L., Ding, R., Napper, F.L., Young, R., Williams, J., Ward, M., Gudmundsen, O., Payne, S., Vic, H., Shearman, C.P., Ye, S., Gallagher, P.J., Grimble, R.F. and Calder, P.C. (2007) Long-chain n-3 fatty acids enter advanced atherosclerotic plaques and are associated with decreased inflammation and decreased inflammatory gene expression. Proceedings of the Nutrition Society, 66, 1A-13A. (doi:10.1017/S0029665107005733)

Cederholm, T., Persson, M., Andersson, P., Stenvinkel, P., Nordfors, L., Madden, J., Vedin, I., Wretlind, B., Grimble, R.F. and Palmblad, J. (2007) Polymorphisms in cytokine genes influence long-term survival differently in elderly male and female patients. Journal of Internal Medicine, 262, (2), 215-223. (doi:10.1111/j.1365-2796.2007.01803.x)

Cerqueira, Laura, Azevedo, Nuno F., Almeida, Carina, Jardim, Tatiana, Keevil, Charles William and Vieira, Maria J. (2008) DNA mimics for the rapid identification of microorganisms by fluorescence in situ hybridization (FISH). [in special issue: Nucleic Acid Derivatives in Emerging Technologies] International Journal of Molecular Sciences, 9, (10), 1944-1960. (doi:10.3390/ijms9101944) (PMID:19325728)

Chacko, J., Wallis, L., Jones, A., Cross, N.C.P. and Oscier, D.G. (2007) Utility of early screening for JAK2 V617F mutation in patients with erythrocytosis or thrombocytosis in a District General Hospital. British Journal of Haematology, 137, (s1), 80-81. (doi:10.1111/j.1365-2141.2007.06557.x)

Chaise, Coralie, Buchan, Sarah L., Rice, Jason, Marquet, Jeanine, Rouard, Hélène, Kuentz, Mathieu, Vittes, Gisella E., Molinier-Frenkel, Valérie, Farcet, Jean-Pierre, Stauss, Hans J., Delfau-Larue, Marie-Hélène and Stevenson, Freda K. (2008) DNA vaccination induces WT1-specific T-cell responses with potential clinical relevance. Blood, 112, (7), 2956-2964. (doi:10.1182/blood-2008-02-137695) (PMID:18502835)

Chandak, Giriraj R., Ward, Kirsten J., Yajnik, Chittaranjan S., Pandit, Anand N., Bavdekar, Ashish, Joglekar, Charu V., Fall, Caroline H.D., Mohankrishna, P., Wilkin, Terence J., Metcalf, Bradley S., Weedon, Michael N., Frayling, Timothy M. and Hattersley, Andrew T. (2006) Triglyceride associated polymorphisms of the APOA5 gene have very different allele frequencies in Pune, India compared to Europeans. BMC Medical Genetics, 7, (76), 1-6. (doi:10.1186/1471-2350-7-76)

Chapple, A., May, Carl and Campion, P. (1996) Predictive and carrier testing of children: professional dilemmas for clinical geneticists. European Journal of Genetics in Society, 2, (2), 28-38.

Chapple, Alison, Campion, Peter and May, Carl (1997) Clinical terminology: anxiety and confusion amongst families undergoing genetic counseling. Patient Education and Counseling, 32, (1-2), 81-91. (doi:10.1016/S0738-3991(97)00065-7)

Chapple, Alison and May, Carl (1996) Genetic knowledge and family relationships two case studies. Health & Social Care in the Community, 4, (3), 165-171. (doi:10.1111/j.1365-2524.1996.tb00061.x)

Chapple, Alison, May, Carl and Campion, Peter (1995) Lay understanding of genetic disease: a British study of families attending a genetic counseling service. Journal of Genetic Counseling, 4, (4), 281-300. (doi:10.1007/BF01408074)

Chapple, Alison, May, Carl and Campion, Peter (1995) Parental guilt: the part played by the clinical geneticist. Journal of Genetic Counseling, 4, (3), 179-191. (doi:10.1007/BF01408408)

Chase, A., Higley, K., Baxter, J.F.E. and Cross, N.C.P. (2003) Testing in-vitro for imatinib sensitivity in BCR-ABL negative myeloproliferative disorders. Blood, 102, (11), pp.658A.

Chase, A., Schultheis, B., Kreil, S., Baxter, J., Hidalgo-Curtis, C., Jones, A., Zhang, L., Grand, F.H., Melo, J.V. and Cross, N.C. (2009) Imatinib sensitivity as a consequence of a CSF1R-Y571D mutation and CSF1/CSF1R signaling abnormalities in the cell line GDM1. Leukemia, 23, (2), 358-364. (doi:10.1038/leu.2008.295)

Chase, Alex J. and Newby, Andrew C. (2003) Regulation of matrix metalloproteinase (matrixin) genes in blood vessels: a multi-step recruitment model for pathological remodelling. Journal of Vascular Research, 40, (4), 329-343. (doi:10.1159/000072697)

Chase, Andrew and Cross, Nicholas C. (2011) Aberrations of EZH2 in cancer. Clinical Cancer Research, 17, (9), 2613-2618. (doi:10.1158/1078-0432.CCR-10-2156) (PMID:21367748)

Chase, Andrew, Ernst, Thomas, Fiebig, Andreas, Collins, Andrew, Grand, Francis, Erben, Phillip, Reiter, Andreas, Schreiber, Stefan and Cross, Nicholas C.P. (2010) TFG, a target of chromosome translocations in lymphoma and soft tissue tumors, fuses to GPR128 in healthy individuals. Haematologica, 95, (1), 20-26. (doi:10.3324/haematol.2009.011536)

Chase, Andrew, Huntly, Brian. J. P. and Cross, Nicholas. C. P. (2001) Cytogenetics of chronic myeloid leukaemia. Best practice and research.Clinical haematology, 14, (3), 553-571. (doi:10.1053/beha.2001.0154)

Chellapa, George (2009) Computer simulation of lipids and DNA using a coarse grain methodology. University of Southampton, School of Chemistry, Doctoral Thesis, 191pp.

Chen, L., Velasco Mondragon, H.E., Lazcano-Ponce, E., Collins, A. and Shugart, Y.Y. (2006) Effect of the peroxisome proliferators-activated receptor (PPAR) gamma 3 gene on BMI in 1,210 school students from Morelos, Mexico. Pacific Symposium on Biocomputing, 467-477.

Chen, Q., Lu, P., Jones, A.V., Cross, N.C., Silver, R.T. and Wang, Y.L. (2006) Amplification refractory mutation system (ARMS), a highly sensitive and simple PCR assay for the detection of JAK2 V617F mutation in chronic myeloproliferative disorders. Journal of Molecular Diagnostics, 8, (5), p.634.

Chen, Qiaofang, Lu, Pin, Jones, Amy V., Cross, Nicholas C.P., Silver, Richard T. and Wang, Y. Lynn (2007) Amplification refractory mutation system, a highly sensitive and simple polymerase chain reaction assay, for the detection of JAK2 V617F mutation in chronic myeloproliferative disorders. Journal of Molecular Diagnostics, 9, (2), 272-276. (doi:10.2353/jmoldx.2007.060133)

Chen, X.H., Rodriguez, S., Hawe, E., Talmud, P.J., Miller, G.J., Underhill, P., Humphries, S.E. and Day, I.N. (2004) Evidence of admixture from haplotyping in an epidemiological study of UK Caucasian males: implications for association analyses. Human heredity, 57, (3), 142 - 155. (doi:10.1159/000079245)

Chen, Xiao-He, O'Dell, Sandra D. and Day, Ian N.M. (2002) Microplate array diagonal gel electrophoresis for cohort studies of microsatellite loci. Biotechniques, 32, (5), 1080-1089.

Chen, Zhilin, Lambden, Paul R., Lau, Jeshen, Caul, E. Owen and Clarke, Ian N. (2002) Human group C rotavirus: completion of the genome sequence and gene coding assignments of a non-cultivatable rotavirus. Virus Research, 83, (1-2), 179-187. (doi:10.1016/S0168-1702(01)00442-7)

Cheung, K.S.C., Yamada, N., Tilley, S., Clarke, N.M.P. and Roach, H.I. (2006) Expression of ADAM-TS4 by chondrocytes in osteoarthritis in relation to changes in DNA methylation status. Journal of Bone and Joint Surgery - British Volume, 88, (Supplement III), p.404.

Chiecchio, Laura, Dagrada, Gian Paolo, Ibrahim, Aahraf H., Dachs Cabanas, Elizabet, Protheroe, Rebbeca K.M., Stockley, David M., Orchard, Kim H., Cross, Nicholas C.P., Harrison, Christine J. and Ross, Fiona M. on behalf of the UK Myeloma Forum (2009) Timing of acquisition of deletion 13 in plasma cell dyscrasias is dependent on genetic context. Haematologica, 94, (12), 1708-1713. (doi:10.3324/haematol.2009.011064)

Chiecchio, Laura, Dagrada, Gian Paolo, White, Helen E., Townsend, Mark R., Protheroe, Rebecca K.M., Cheung, Kan Luk, Stockley, David M., Orchard, Kim H., Cross, Nicholas C.P., Harrison, Christine J. and Ross, Fiona M. UK Myloma Forum (2009) Frequent upregulation of MYC in plasma cell leukemia. Genes Chromosomes Cancer, 48, (7), 624-636. (doi:10.1002/gcc.20670)

Child, N.J.A., Yang, I.A., Pulletz, M.C.K., de Courcy-Golder, K., Andrews, A.-L., Pappachan, V.J. and Holloway, J.W. (2003) Polymorphisms in Toll-like receptor 4 and the systemic inflammatory response syndrome. Biochemical Society Transactions, 31, (3), 652-653.

Chivers Seymour, Kim, Addington-Hall, Julia, Lucassen, Anneke M. and Foster, Claire L. (2010) What facilitates or impedes family communication following genetic testing for cancer risk? a systematic review and meta-synthesis of primary qualitative research. Journal of Genetic Counseling, 19, (4), 330-342. (doi:10.1007/s10897-010-9296-y)

Christensen, M.B., Lawlor, D.A., Gaunt, T.R., Howell, M.W., Davey Smith, G., Ebrahim, S. and Day, I.N.M. (2006) Genotype of galectin 2 (LGALS2) is associated with insulin-glucose profile in the British Women’s Heart and Health Study. Diabetologia, 49, (4), 673-677. (doi:10.1007/s00125-006-0145-3)

Chronaki, Georgia, Broyd, Samantha J., Garner, Matthew J., Hadwin, Julie A., Thompson, M.J. and Sonuga-Barke, Edmund J.S. (2012) Isolating N400 as neural marker of vocal anger processing in 6-11-year old children. Developmental Cognitive Neuroscience(doi:10.1016/j.dcn.2011.11.007) (In Press)

Chung, M. and Lotery, A. J. (2002) Genetics update of macular diseases. Ophthalmology clinics of North America, 15, (4), 459-465.

Churbanov, Alexander, Vorechovsky, Igor and Hicks, Chindo (2010) A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elements. BMC Bioinformatics, 11, (1), 22-[25pp]. (doi:10.1186/1471-2105-11-22)

Churbanov, Alexander, Vořechovský, Igor and Hicks, Chindo (2009) Computational prediction of splicing regulatory elements shared by Tetrapoda organisms. BMC Genomics, 10, 508. (doi:10.1186/1471-2164-10-508)

Clarke, Angus, Richards, Martin, Kerzin-Storrar, Lauren, Halliday, Jane, Young, Mary Anne, Simpson, Sheila A., Featherstone, Katie, Forrest, Karen, Lucassen, Anneke, Morrison, Patrick J., Quarrell, Oliver W.J. and Stewart, Helen (2005) Genetic professionals' reports of nondisclosure of genetic risk information within families. European Journal of Human Genetics, 13, (5), 556-562. (doi:10.1038/sj.ejhg.5201394)

Clarkson, A., Willatt, L., Thomas, N.S., Baralle, D., James, M. and Holden, S. (2004) A female patient with a de novo interstitial duplication of Xp11.2 to Xp11.4: case report. Journal of Medical Genetics, 41, pp.S56.

Clarkson, Graham J.J., Rothwell, Steve D. and Taylor, Gail (2005) End of day harvest extends shelf life. Hortscience, 40, (5), 1431-1435.

Cleal, J.K., Day, P.I., Hanson, M.A. and Lewis, R.M. (2009) Measurement of housekeeping genes in human placenta. Placenta, 30, (11), 1002-1003. (doi:10.1016/j.placenta.2009.09.002)

Cleal, J.K., Day, P.L., Hanson, M.A. and Lewis, R.M. (2010) Sex differences in the mRNA levels of housekeeping genes in human placenta. Placenta, 31, (6), 556-557. (doi:10.1016/j.placenta.2010.03.006) (PMID:20398937)

Clemo, Nadine K., Collard, Tracey J., Southern, Samantha L., Edwards, Kieron D., Moorghen, Moganaden, Packham, Graham, Hague, Angela, Paraskeva, Christos and Williams, Ann C. (2008) BAG-1 is up-regulated in colorectal tumour progression and promotes colorectal tumour cell survival through increased NF-kappa B activity. Carcinogenesis, 29, (4), 849-857. (doi:10.1093/carcin/bgn004)

Clericuzio, Carol, Hingorani, Melanie, Crolla, John A., van Heyningen, Veronica and Verloes, Alain (2011) Clinical utility gene card for: WAGR syndrome. European Journal of Human Genetics, 19, (4)(doi:10.1038/ejhg.2010.220) (PMID:21224893)

Cochran, Duncan A.E., Evans, Caroline A., Blinco, David, Burthem, John, Stevenson, Freda K., Gaskell, Simon J. and Whetton, Anthony D. (2003) Proteomic analysis of chronic lymphocytic leukemia subtypes with mutated or unmutated Ig V(H) genes. Molecular & Cellular Proteomics, 2, (12), 1331-1341. (doi:10.1074/mcp.M300055-MCP200)

Cockwell, A. and Crolla, J.A. (2002) A cytogenetic and fish study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples. Journal of Medical Genetics, 39, pp.S24.

Cockwell, Annette E., Jacobs, Patricia A., Beal, Sarah J. and Crolla, John A. (2003) A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities. Human Genetics, 112, (3), 298-302. (doi:10.1007/s00439-002-0887-z)

Coelho, Vania, Krysov, Sergey, Ghaemmaghami, Amir M., Emara, Mohamed, Potter, Kathleen N., Johnson, Peter, Packham, Graham, Martinez-Pomares, Luisa and Stevenson, Freda K. (2010) Glycosylation of surface Ig creates a functional bridge between human follicular lymphoma and microenvironmental lectins. Proceedings of the National Academy of Sciences of the United States of America, 107, (43), 18587-18592. (doi:10.1073/pnas.1009388107) (PMID:20937880)

Cohen, Nicola R., Hammans, Simon R., Macpherson, James and Nicoll, James A.R. (2011) New neuropathological findings in Unverrichta–Lundborg disease: neuronal intranuclear and cytoplasmic inclusions. Acta Neuropathologica, 121, (3), 421-427. (doi:10.1007/s00401-010-0738-2) (PMID:20721566)

Coldwell, Mark J., deSchoolmeester, Matthew L., Fraser, Graham A., Pickering, Becky M., Packham, Graham and Willis, Anne E. (2001) The p36 isoform of BAG-1 is translated by internal ribosome entry following heat shock. Oncogene, 20, (30), 4095-4100.

Coles, Rhian, Birdsall, Michelle, Wyttenbach, Andreas and Rubinsztein, David C. (2000) 12-O-Tetradecanoyl-phorbol-13-acetate down-regulates the Huntingtin promoter at Spl sites. Neuroreport, 11, (14), 3157-3161.

Collins, A. (2003) Genetics maps: integration. In, Cooper, David (ed.) Nature Encyclopedia of the Human Genome. London, UK, Nature Publishing Group, 888-891.

Collins, A. (2009) Approaches to the identification of susceptibility genes. Parasite Immunology, 31, (5), 225-233. (doi:10.1111/j.1365-3024.2008.01089.x)

Collins, A., Ennis, S., Taillon-Miller, P., Kwok, P-Y. and Morton, N.E. (2001) Allelic association with SNPs: metrics, populations, and the linkage disequilibrium map. [In Special Issue: SNP 2000: Third International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis]. Human Mutation, 17, (4), 255-262. (doi:10.1002/humu.21)

Collins, A., Ennis, S., Tapper, W. and Morton, N.E. (2000) Mapping oligogenes for atopy and asthma by meta-analysis. Genetics and Molecular Biology, 23, (1), 1-10. (doi:10.1590/S1415-47572000000100001)

Collins, A. and Morton, N. (2007) Genome scanning by composite likelihood. In, Weale, M. (ed.) Genetic Epidemiology II: Latest Developments. London, UK, Henry Stewart Talks, 24pp. (The Biomedical & Life Sciences Collection).

Collins, Andrew (2009) Allelic association: linkage disequilibrium structure and gene mapping. Molecular Biotechnology, 41, (1), 83-89. (doi:10.1007/s12033-008-9110-3)

Collins, Andrew and Lau, Winston (2008) CHROMSCAN: genome-wide association using a linkage disequilibrium map. Journal of Human Genetics, 53, (2), 121-126. (doi:10.1007/s10038-007-0226-2)

Collins, Andrew, Lau, Winston and De La Vega, Francisco (2004) Mapping genes for common diseases: the case for genetic (LD) maps. Human Heredity, 58, (1), 2-9. (doi:10.1159/000081451)

Collins, Andrew R. (2008) Linkage disequilibrium and association mapping: an introduction. In, Collins, Andrew R. (ed.) Linkage Disequilibrium and Association Mapping. Totowa, USA, Humana, 1-15. (Methods in Molecular Biology, 376). (doi:10.1007/978-1-59745-389-9_1)

Collins, J., Diedrich, K., Franks, S., Geraedts, J.P.M., Jacobs, P.A., Karges, B., Kennedy, S., Marozzi, A., Regan, L., Baird, D.T., Crosignani, P.G., Devroey, P., Diczfalusy, E., Evers, J.L.H., Fauser, B.C.J.M., Fraser, L., Gianaroli, L., Glasier, A., Liebaers, I., Ragni, G., Sunde, A., Tarlatzis, B., Van Steirteghem, A. and The ESHRE Capri Workshop Group, The ESHRE Capri Workshop Group (2008) Genetic aspects of female reproduction. Human Reproduction Update, 14, (4), 293-307. (doi:10.1093/humupd/dmn009)

Collins, J.E., Legan, P.K., Kenny, T.P., Macgarvie, J., Holton, J.L. and Garrod, D.R. (1991) Cloning and sequence analysis of desmosomal glycoprotein 2 and 3 cDNAs: cadherin-like desmosomal adhesion molecules with heterogeneous cytoplasmic domains. Journal of Cell Biology, 113, (2), 381-391. (doi:10.1083/jcb.113.2.381)

Collins, J.E., Lorimer, J.E., Garrod, D.R., Pidsley, S.C., Buxton, R.S. and Fleming, T.P. (1995) Regulation of desmocollin transcription in mouse preimplantation embryos. Development, 121, 743-752. (PMID:7536656)

Collins, Jane and Fleming, Tom (1995) Specific mRNA detection in single lineage-marked blastomeres from preimplantation embryos. Trends in Genetics, 11, (1), 5-7. (doi:10.1016/S0168-9525(00)88975-1) (PMID:7900194)

Collins, Samuel L., Hervé, Rodolphe, Keevil, C. W., Blaydes, Jeremy P. and Webb, Jeremy S. (2011) Down-regulation of DNA mismatch repair enhances initiation and growth of neuroblastoma and brain tumour multicellular spheroids. PLoS ONE, 6, (12), e28123. (doi:10.1371/journal.pone.0028123) (PMID:22145025)

Collinson, M., Leonard, S.J., Charlton, J., Crolla, J.A., Silve, C., Hall, C.M., Oglivie, C., James, M.A. and Smithson, S.F. (2010) Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH. American Journal of Medical Genetics. Part A, 152A, (12), 3124-3128. (doi:10.1002/ajmg.a.33567) (PMID:21082660)

Collinson, M., Roberts, S.E., Crolla, J.A. and Dennis, N.R. (2002) A recombinant chromosome 15 with duplication of the Prader-Willi/Angelman syndrome critical region arising from a familial intrachromosomal insertion, previously described as a paracentric inversion of 15q11-q15. Journal of Medical Genetics, 39, pp.S24.

Cook, Alan, Aptel, Nathalie, Portillo, Virginia, Siney, Elodie, Sihota, Rajinder, Holden-Dye, Lindy and Wolstenholme, Adrian (2006) Caenorhabditis elegans ivermectin receptors regulate locomotor behaviour and are functional orthologues of Haemonchus contortus receptors. Molecular and Biochemical Parasitology, 147, (1), 118-125. ( doi:10.1016/j.molbiopara.2006.02.003)

Cooke, Sarah, Crawford, Gillian, Parker, Michael, Lucassen, Anneke and Hallowell, Nina (2008) Recall of participation in research projects in cancer genetics: some implications for research ethics. Clinical Ethics, 3, (4), 180-184. (doi:10.1258/ce.2008.008019)

Cooper, C., Javaid, M.K., Taylor, P., Walker-Bone, K., Dennison, E. and Arden, N. (2002) The fetal origins of osteoporotic fracture. Calcified Tissue International, 70, (5), 391-394. (doi:10.1007/s00223-001-0044-z)

Cooper, Cyrus and Genetic Investigation of Anthropometric Traits Consortium, Genetic Investigation of Anthropometric Traits Consortium (2009) Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nature Genetics Today, 41, (1), 25-34. (doi:10.1038/ng.287)

Cope, Natalie, Harold, Denise, Hill, Gary, Moskvina, Valentina, Stevenson, Jim, Holmans, Peter, Owen, Michael J., O'Donovan,, Michael C. and Julie, Williams (2005) Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia. American Journal of Human Genetics, 76, (4), 581-591. (doi:10.1086/429131)

Copson, E., White, H.E., Cross, N.C.P., Eccles, D. and Robinson, D.O. (2004) Use of Pyrosequencing technology to quantitate allele expression in patients with BRCA1 mutations. Journal of Medical Genetics, 41, pp.S72.

Copson, Ellen R., White, Helen E., Blaydes, Jeremy P., Robinson, David O., Johnson, Peter W. and Eccles, Diana M. (2006) Influence of the MDM2 single nucleotide polymorphism SNP309 on tumour development in BRCA1 mutation carriers. BMC Cancer, 6, (80)(doi:10.1186/1471-2407-6-80)

Couty, A., Down, R.E., Gatehouse, A.M.R., Kaiser, L., Pham-Delegue, M.H. and Poppy, G.M. (2001) Effects of artificial diet containing GNA and GNA-expressing potatoes on the development of the aphid parasitoid Aphidius ervi Haliday (Hymenoptera : Aphidiidae). Journal of Insect Physiology, 47, (12), 1357-1366. (doi:10.1016/S0022-1910(01)00111-1)

Cox, H., Renforth, G., Craven, L., Spaluto, M. and Wilson, D. (2002) Hypoplastic left heart syndrome: a clinical and molecular study. Journal of Medical Genetics, 39, pp.S39.

Cox, Helen, Lucassen, Anneke, Rio, Marlene, Browne, Caroline, Renforth, Glenn, Craven, Lyndsey, Salmon, Tony and Wilson, David I. (2009) Two children with subtelomeric 11q deletions: a description and interpretation of their clinical presentations and molecular genetic findings. Clinical Dysmorphology, 18, (2), 98-102. (doi:10.1097/MCD.0b013e3283202a1f)

Cragg, Mark S., Chan, H.T. Claude, Fox, Matthew D., Tutt, Alison, Smith, Aaimée, Oscier, David G., Hamblin, Terry J. and Glennie, Martin J. (2002) The alternative transcript of CD79b is overexpressed in B-CLL and inhibits signaling for apoptosis. Blood, 100, (9), 3068-3076. (doi:10.1182/blood.V100.9.3068)

Cragg, Mark S., Jansen, Elisa S., Cook, Michele, Harris, Claire, Strasser, Andreas and Scott, Clare L. (2008) Treatment of B-RAF mutant human tumor cells with a MEK inhibitor requires Bim and is enhanced by a BH3 mimetic. Journal of Clinical Investigation, 118, (11), 3651-3659. (doi:10.1172/JCI35437)

Cragg, Mark S., Kuroda, Junya, Puthalakath, Hamsa, Huang, David C.S. and Strasser, Andreas (2007) Gefitinib-induced killing of NSCLC cell lines expressing mutant EGFR requires BIM and can be enhanced by BH3 mimetics. Plos Medicine, 4, (10), 1681-1690. (doi:10.1371/journal.pmed.0040316)

Craig, Kate, Takiyama, Yoshihisa, Soong, Bing-Wen, Jardim, Laura B, Saraiva-Pereira, Maria Luiza, Lythgow, Kieren, Morino, Hiroyuki, Maruyama, Hirofumi, Kawakami, Hideshi and Chinnery, Patrick F (2008) Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome? European Journal of Human Genetics, 16, (7), 841-847. (doi:10.1038/ejhg.2008.20) (PMID:18285829)

Crawford, Gillian and Lucassen, Anneke (2010) Predictive genetic testing in a young child: a case report. Familial Cancer, 9, (1), 61-64. (doi:10.1007/s10689-009-9277-1) (PMID:19672699)

Crolla, J. (2002) Antenatal diagnostic dilemmas: chromosome breakage syndromes. Journal of Medical Genetics, 39, pp.S31.

Crolla, J.A. and Van Heyningen, V. (2001) FISH studies in patients with aniridia reveals > 35% with chromosome abnormalities including five cryptic 3 PAX6 deletions. American Journal of Human Genetics, 69, (4), p.232.

Crolla, John A., Youings, Sheila A., Ennis, Sarah and Jacobs, Patricia A. (2005) Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited. European Journal of Human Genetics, 13, (2), 154-160. (doi:10.1038/sj.ejhg.5201311)

Crolla, John A. and van Heyningen, Veronica (2002) Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. American Journal of Human Genetics, 71, (5), 1138-1149. (doi:10.1086/344396)

Crosier, Moira, Viggiano, Luigi, Guy, Jane, Misceo, Doriana, Stones, Robert, Wei, Wenbin, Hearn, Tom, Ventura, Mario, Archidiacono, Nicoletta, Rocchi, Mariano and Jackson, Michael S. (2002) Letter. Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms. Genome Research, 12, (1), 67-80. (doi:10.1101/gr.213702)

Cross, N.C.P., Daley, G.Q., Green, A.R., Hughes, T.P., Jamieson, C., Manley, P., Mughal, T., Perrotti, D., Radich, J., Skoda, R., Soverini, S., Vainchenker, W., Verstovsek, S., Villeval, J.-L. and Goldman, J.M. (2009) BCR-ABL1-positive CML and BCR-ABL1-negative chronic myeloproliferative disorders: some common and contrasting features. Leukemia, 22, (11), 1975-1989. (doi:10.1038/leu.2008.231)

Cross, N.C.P. and Reiter, A. (2002) Tyrosine kinase fusion genes in chronic myeloproliferative diseases. Leukemia, 16, (7), 1207-1212. (doi:10.1038/sj.leu.2402556)

Cross, Nicholas C. (2008) Hitchhikers' guide to the leukemia genome. Blood, 111, (9), 4428-4429.

Cross, Nicholas C. P. (2011) Genetic and epigenetic complexity in myeloproliferative neoplasms. Hematology, 2011, (1), 208-214. (doi:10.1182/asheducation-2011.1.208) (PMID:22160036)

Cross, Nicholas C.P. (2009) Standardisation of molecular monitoring for chronic myeloid leukaemia. Best Practice and Research. Clinical Haematology, 22, (3), 355-365. (doi:10.1016/j.beha.2009.04.001)

Culpan, Doris, MacGowan, Sian H., Ford, Julia M., Nicoll, James A., Griffin, W. Sue, Dewar, Deborah, Cairns, Nigel J., Hughes, Anthony, Kehoe, Patrick G. and Wilcock, Gordon K. (2003) Tumour necrosis factor-αgene polymorphisms and Alzheimer's disease. Neuroscience Letters, 350, (1), 61-65. ( doi:10.1016/S0304-3940(03)00854-1)

Curran, S., Mill, J., Tahir, E., Kent, L., Richards, S., Gould, A., Hucket, L., Sharp, J., Batten, C., Fernando, S., Ozbay, F., Yazgan, Y, Simanoff, E., Thompson, M., Taylor, E. and Asherson, P. (2001) Association study of a dopamine transporter polymorphism and attention deficit hyperactivity disorder in the UK and Turkish Samples. Molecular Psychiatry, 6, (4), 425-428. (doi:10.1038/sj.mp.4000914)

Curran, S.R., Powell, J., Neale, B.M., Dworzynski, K., Li, T., Thomas, S., Brown, J., Veltman, M., Rioberts, S., Murphy, D., Sham, P. and Bolton, P. (2005) An association analysis of GABRB3, a candidate gene of the GABAA receptor complex on chromosome 15Q and autism spectrum disorder. [In Special Issue: XIII World Congress of Psychiatric Genetics 2005]. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 138B, (1), p.66. (doi:10.1002/ajmg.b.30233)

Cutress, Ramsey I., Townsend, Paul A., Sharp, Adam, Maison, Anna, Wood, Lynn, Lee, Ron, Brimmell, Matthew, Mullee, Mark A., Johnson, Peter W.M., Royle, Gavin T., Bateman, Adrian C. and Packham, Graham (2003) The nuclear BAG-1 isoform, BAG-1L, enhances oestrogen-dependent transcription. Oncogene, 22, (32), 4973-4982. (doi:10.1038/sj.onc.1206688)

Dahabreh, Issa J., Jones, Amy V., Voulgarelis, Michael, Giannouli, Stavroula, Zoi, Christine, Alafakis-Tzannatos, Christina, Varla-Leftherioti, Marighoula, Moutsopoulos, Haralampous, Loukopoulos, Dimitris, Fotiou, Stelios, Cross, Nicholas C.P. and Zoi, Katerina (2009) No evidence for increased prevalence of JAK2 V617F in women with a history of recurrent miscarriage. British Journal of Haematology, 144, (5), 802-803. (doi:10.1111/j.1365-2141.2008.07510.x)

Dallosso, A.R., Dolwani, S., Jones, N., Jones, S., Colley, J., Maynard, J., Idziaszczyk, S., Humphreys, V., Arnold, J., Donaldson, A., Eccles, D., Ellis, A., Evans, D.G., Frayling, I.M., Hes, F.J., Houlston, R.S., Meyer, E.R., Nielsen, M., Parry, S., Tyler, E., Moskvina, V., Cheadle, J.P. and Sampson, J.R. (2008) Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. Gut: an International Journal of Gastroenterology and Hepatology, 57, (9), 1252-1255. (doi:10.1136/gut.2007.145748)

Daly, E., Moore, C.J., Schmitz, N., Jacobs, P., Davies, K., Murphy, K.C. and Murphy, D.G.M. (2001) Premutation expansion of CGG triplet repeats affects brain: a study of male carriers of Fragile X Syndrome. Journal of Medical Genetics, 38, pp.S40.

Darby, R.A.J., Sollogoub, M., McKeen, M., Brown, T., Risitano, A., Brown, N., Barton, C., Brown, T. and Fox, K.R. (2002) High throughput measurement of duplex, triplex and quadruplex melting curves using molecular beacons and a LightCycler. Nucleic Acids Research, 30, (9), e39-[9pp]. (doi:10.1093/nar/30.9.e39)

Darling, Scott L., Stulz, Eugen, Feeder, Neil, Bampos, Nick and Sanders, Jeremy K.M. (2000) Phosphine-substituted porphyrins as supramolecular building blocks. New Journal of Chemistry, 24, (5), 261-264. (doi:10.1039/b000482k)

Darvill, B., Ellis, J.S, Lye, G.C and Goulson, D (2005) Population structure and inbreeding in a rare and declining bumblebee, Bombus muscorum (Hymenoptera: Apidae). Molecular Ecology, 15, (3), 601-611. (doi:10.1111/j.1365-294X.2006.02797.x) (Submitted)

Davey Smith, George, Lawlor, Debbie A., Harbord, Roger, Timpson, Nic, Rumley, Ann, Lowe, Gordon D.O., Day, Ian N.M. and Ebrahim, Shah (2005) Association of C-reactive protein with blood pressure and hypertension: life course confounding and mendelian randomization tests of causality. Arteriosclerosis, Thrombosis, and Vascular Biology, 25, (5), 1051-1056. (doi:10.1161/01.ATV.0000160351.95181.d0)

Davidson, Sean M., Rybka, Aneta E. and Townsend, Paul A. (2009) The powerful cardioprotective effects of urocortin and the corticotropin releasing hormone (CRH) family. Biochemical Pharmacology, 77, (2), 141-150. (doi:10.1016/j.bcp.2008.08.033)

Davidson, Sean M., Townsend, Paul A., Carroll, Chris, Yurek-George, Alexander, Balasubramanyam, Karanam, Kundu, Tapas K., Stephanou, Anastasis, Packham, Graham, Ganesan, A. and Latchman, David S. (2005) The transcriptional coactivator p300 plays a critical role in the hypertrophic and protective pathways induced by phenylephrine in cardiac cells but is specific to the hypertrophic effect of urocortin (in special Issue on EMBO Symposium: Chemistry Meets Biology). ChemBioChem, 6, (1), 162-170. (doi:10.1002/cbic.200400246)

Davies, J.H., Evans, B.A.J., Jenney, M.E.M. and Gregory, J.W. (2003) Effects of chemotherapeutic agents on the function of primary human osteoblast-like cells derived from children. Journal of Clinical Endocrinology & Metabolism, 88, (12), 6088-6097. (doi:10.1210/jc.2003-030712)

Davies, J.H., Knight, E.J., Savage, A., Brown, J. and Malone, P.S. (2011) Evaluation of terminology used to describe disorders of sex development. Journal of Pediatric Urology, 7, (4), 412-415. (doi:10.1016/j.jpurol.2010.07.004) (PMID:20708971)

Davies, Justin H., Reed, Joseph M., Blake, Elizabeth, Priesemann, Max, Jackson, Alan A. and Clarke, Nicholas M.P. (2011) Epidemiology of vitamin D deficiency in children presenting to a pediatric orthopaedic service in the UK. Journal of Pediatric Orthopaedics, 31, (7), 798-802. (doi:10.1097/BPO.0b013e31822f1af1)

Day, I.N.M., Al-Dahmesh, M.A., Alharbi, K.K., Chen, X., Ganderton, R.H., Gaunt, T.R., Hinks, L.J., O'Dell, S.D., Spanakis, E., Day, P.J.R., Suchard, M.A., Zhang, B.B. and James, M.R. (2002) Electrophoresis in microplate formats. In, Ye, S. and Day, I.N.M. (eds.) Microarrays & Microplates: Applications in Biomedical Sciences. Oxford, UK, Garland Science, 145-165. (Advanced Methods).

Day, Ian N. (2005) Microplate array diagonal gel electrophoresis (MADGE). In, Taylor, Graham R., Day, Ian N.M. and Human Genome Organization, (HUGO) (eds.) Guide to Mutation Detection. London, UK, Wiley, 315-320. (General Genetics).

Day, Ian N.M. (2002) Molecular genetic epidemiology: a laboratory perspective, London, UK: Berlin, Germany, Springer, 214pp. (Principles and Practice, XII)

Day, Ian N.M. (2003) Genetics of monogenic hypercholesterolemia. Volume 4. In, Cooper, David (ed.) Nature Encyclopedia of the Human Genome. London, UK, Nature Publishing Group, 69-74.

Day, Ian N.M. (2003) Genetics of Monogenic Hypercholesterolemia. In, Cooper, David (ed.) Nature Encyclopedia of the Human Genome. London, Nature Publishing Group, 69-74.

Day, Ian N.M., Aldahmesh, Mohammed A., Haddad, Lema, Alharbi, Khalid K., Chen, Xiao-he, Rassoulian, Hamid, Humphries, Steve E., Spanakis, Emmanuel and Eccles, Diana, Human Genome Organization (HUGO) (2005) MeltMADGE: economical very high-throughput mutation scanning using thermal ramp electrophoresis in conjunction with MADGE (microplate array) gels. In, Taylor, Graham R. and Day, Ian N. (eds.) Guide to Mutation Detection. Hoboken, USA, Wiley, 85-99.

Day, Ian N.M., Gaunt, Tom R., Chen, Xiao-he and Ganderton, Rosalind H. (2004) Microplate array diagonal gel electrophoresis for SNP and microsatellite genotyping and for mutation scanning. In, Fuchs, Jurgen and Padda, Maurizio (eds.) Encyclopedia of Medical Genomics and Proteomics. London, UK, Informa Healthcare, 836-841.

Day, Ian N.M., Gu, Dongfeng, Ganderton, Rosalind H., Spanakis, Emmanuel and Ye, Shu (2001) Epidemiology and the genetic basis of disease. International Journal of Epidemiology, 30, (4), 661-667. (doi:10.1093/ije/30.4.661)

Day, Ian N.M., King, Tabitha H.T., Chen, Xiao-he, Voropanov, Anca M., Ye, Shu, Syddall, Holly E., Sayer, Avan Aihie, Cooper, Cyrus, Barker, David J. and Phillips, David I.W. (2002) Insulin-like growth factor-I genotype and birthweight. The Lancet, 360, (9337), 945. (doi:10.1016/S0140-6736(02)11044-0)

Day-Williams, Aaron G., Southam, Lorraine, Panoutsopoulou, Kalliope, Rayner, Nigel W., Esko, Tonu, Estrada, Karol, Helgadottir, Hafdis T., Hofman, Albert, Ingvarsson, Throvaldur, Jonsson, Helgi, Keis, Aime, Kerkhof, Hanneke J. M., Thorleifsson, Gudmar, Arden , Nigel K., Carr, Andrew, Chapman, Kay, Deloukas, Panos, Loughlin, John, McCaskie, Andrew, Ollier, William E. R., Ralston, Staurt H., Spector, Timothy D., Wallis, Gillian A., Wilkinson, J. Mark, Aslam, Nadim, Birrell, Fraser, Carluke, Ian, Joseph, John, Rai, Ashok, Reed, Mike, Walker, Kirsten, Doherty, Sally A., Jonsdottir, Ingileif, Maciewicz, Rose A., Muir, Kenneth A., Metspalu, Andres, Rivadeneira, Fernando, Stefansson, Kari, Styrkarsdottir, Unnur, Uitterlinden, Andre G., van Meurs, Joyce B. J., Zhang, Weiya, Valdes, Ana M., Doherty, Michael, Zeggini, Elefthira and arcOGEN Consortium (2011) A variant in MCF2L is associated with osteoarthritis. The American Journal of Human Genetics, 89, (3), 446-450. (doi:10.1016/j.ajhg.2011.08.001) (PMID:21871595)

De Falco, Francesca, Cainarca, Silvia, Andolfi, Grazia, Ferrentino, Rosa, Berti, Caterina, Criado, German Rodríguez, Rittinger, Olaf, Dennis, Nick, Odent, Sylvie, Rastogi, Amit, Liebelt, Jan, Chitayat, David, Winter, Robin, Jawanda, Harinder, Ballabio, Andrea, Franco, Brunella and Meroni, Germana (2003) X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. American Journal of Medical Genetics Part A, 120A, (2), 222-228. (doi:10.1002/ajmg.a.10265)

De Groot, P. (1996) Underutilized Tropical Plant Genetic Resources, Conservation and Utilization, Kuala Lumpur, MY, Universiti Pertanian Malaysia Press, 353pp.

De La Vega, Francisco M., Isaac, Hadar, Collins, Andrew, Scafe, Charles R., Halldórsson, Bjarni V., Su, Xiaoping, Lippert, Ross A., Wang, Yu, Laig-Webster, Marion, Koehler, Ryan T., Ziegle, Janet S., Wogan, Lewis T., Stevens, Junko F., Leinen, Kyle M., Olson, Sheri J., Guegler, Karl J., You, Xiaoqing, Xu, Lily H., Hemken, Heinz G., Kalush, Francis, Itakura, Mitsuo, Zheng, Yi, de Thé, Guy, O'Brien, Stephen J., Clark, Andrew G., Istrail, Sorin, Hunkapiller, Michael W., Spier, Eugene G. and Gilbert, Dennis A. (2005) The linkage disequilibrium maps of three human chromosomes across four populations reflect their demographic history and a common underlying recombination pattern. Genome Research, 15, (4), 454-462. (doi:10.1101/gr.3241705)

Deb, Roona, Shahib, Farouk, Reid, Kenneth and Clark, Howard (2007) Major house dust allergens Dermatophagoides pteronyssinus 1 and Dermatophagoides farinae 1 degrade and inactivate lung surfactant proteins A and D. Journal of Biological Chemistry, 282, (51), 36808-36819. (doi:10.1074/jbc.M702336200)

Deguchi, Kenji, Ayton, Paul M., Carapeti, Melina, Kutok, Jeffery L., Snyder, Cynthia S., Williams, Ifor R., Cross, Nicholas C.P., Glass, Christopher K., Cleary, Michael L. and Gilliland, D. Gary (2003) MOZ-TIF2-induced acute myeloid leukemia requires the MOZ nucleosome binding motif and TIF2-mediated recruitment of CBP. Cancer Cell, 3, (3), 259-271. (doi:10.1016/S1535-6108(03)00051-5)

Demiroglu, Asuman, Steer, E. Joanna, Heath, Carol, Taylor, Kerry, Bentley, Mark, Allen, Steven L., Koduru, Prasad, Brody, Judith P., Hawson, Geoffrey, Rodwell, Robyn, Doody, Mary Lou., Carnicero, Fernando, Reiter, Andreas, Goldman, John M., Melo, Junia V. and Cross, Nicholas C.P. (2001) The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins. Blood, 98, (13), 3778-3783. (doi:10.1182/blood.V98.13.3778)

Dennis, N.R., Veltman, M.W.M., Thompson, R., Craig, E., Bolton, P.F. and Thomas, N.S. (2006) Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13. American Journal of Medical Genetics Part A, 140A, (5), 434-441. (doi:10.1002/ajmg.a.31091)

Dennison, E.M., Syddall, H.E., Day, I.N.M., Gaunt, T.R., Rodriguez, S., Lips, M. and Cooper, C. (2006) Early life calcium-sensing receptor gene polymorphism interaction in determination of adult bone mass: the Hertfordshire Cohort study. Journal of Bone and Mineral Research, 21, (7), p1156.

Dennison, Elaine M., Arden, Nigel K., Keen, Richard W., Syddall, Holly, Day, Ian N.M., Spector, Timothy D. and Cooper, Cyrus (2001) Birthweight, vitamin D receptor genotype and the programming of osteoporosis. Paediatric and Perinatal Epidemiology, 15, (3), 211-219. (doi:10.1046/j.1365-3016.2001.00350.x)

Dennison, Elaine M., Syddall, Holly E., Rodriguez, S., Voropanov, A., Day, I.N.M. and Cooper, Cyrus (2004) Polymorphism in the growth hormone gene, weight in infancy, and adult bone mass. Journal of Clinical Endocrinology and Metabolism, 89, (10), 4898-4903. (doi:10.1210/jc.2004-0151)

Dey, J., Carr, A.-J.F., Cagampang, F.R.A., Semikhodskii, A.S., Loudon, A.S.I, Hastings, M.H. and Maywood, E.S. (2005) The tau mutation in the Syrian hamster differentially reprograms the circadian clock in the SCN and peripheral tissues. Journal of Biological Rhythms, 20, (2), 99-110. (doi:10.1177/0748730404274264)

Di Leo, A., Chan, S., Paesmans, M., Friedrichs, K., Pinter, T., Cocquyt, V., Murray, E., Bodrogi, I., Walpole, E., Lesperance, B., Korec, S., Crown, J., Simmonds, P., Von Minckwitz, G., Leroy, J.Y., Durbecq, V., Isola, J., Aapro, M., Piccart, M.J. and Larsimont, D. (2004) HER-2/neu as a predictive marker in a population of advanced breast cancer patients randomly treated either with single-agent doxorubicin or single-agent docetaxel. Breast Cancer Research and Treatment, 86, (3), 197-206. (doi:10.1023/B:BREA.0000036783.88387.47)

Diaz-Mochon, Juan José, Bialy, Laurent, Keinicke, Lise and Bradley, Mark (2005) Combinatorial libraries - from solution to 2D microarrays. Chemical Communications, (11), 1384-1386. (doi: 10.1039/b415847d)

Diebold, Sandra S., Montoya, Maria, Unger, Hermann, Alexopoulou, Lena, Roy, Polly, Haswell, Linsey E., Al-Shamkhani, Aymen, Flavell, Richard, Borrow, Persephone and Reis e Sousa, Caetano (2003) Letter to Nature. Viral infection switches non-plasmacytoid dendritic cells into high interferon producers. Nature, 424, (6946), 324-328. (doi:10.1038/nature01783)

Divina, Petr, Kvitkovicova, Andrea, Buratti, Emanuele and Vorechovsky, Igor (2009) Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping. European Journal of Human Genetics, 17, (6), 759-765. (doi:10.1038/ejhg.2008.257)

Dobbyn, H.C., Hill, K., Hamilton, T.L., Spriggs, K.A., Pickering, B.M., Coldwell, M.J., de Moor, C.H., Bushell, M. and Willis, A.E. (2008) Regulation of BAG-1 IRES-mediated translation following chemotoxic stress. Oncogene, 27, (8), 1167-1174. (doi:10.1038/sj.onc.1210723) (PMID:17700523)

Docherty, L.E., Poole, R, Mattocks, C.J., Lehmann, A., Temple, I.K. and Mackay, D.J.G. (2010) Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes. Diabetologia, 53, (11), 2347-2351. (doi:10.1007/s00125-010-1853-2) (PMID:20668833)

Dolan, Michelle, Cioc, Adina, Cross, Nicholas C. P., Neglia, Joseph P. and Tolar, Jakub (2011) Favorable outcome of allogeneic hematopoietic cell transplantation for 8p11 myeloproliferative syndrome associated with BCR-FGFR1 gene fusion. Pediatric Blood & Cancer(doi:10.1002/pbc.23404) (PMID:22106025) (In Press)

Dolk, H., Armstrong, B., Lachowycz, K., Vrijheid, M., Rankin, J., Abramsky, L., Boyd, P. and Wellesley, D. (2010) Ambient Air Pollution and Risk of Congenital Anomalies in England, 1991-99. Occupational and Environmental Medicine, 67, (4), 223-227. (doi:10.1136/oem.2009.045997)

Dolk, H., Jentink, J., Loane, M., Morris, J., de Jong-van den Berg, L.T., Calzolari, E., Barisic, I., Wellesley, D., Garne, E., De Vigan, C., de Walle, H., Bakker, M., Gatt, M., Melve, K.K., O'Mahony, M., Nelen, V., Gillerot, Y., Rivieri, F., Pierini, A., Queisser-Luft, A., Poetzsch, S., Tucker, D., Portillo, I., Latos-Bielenska, A., Mejnartowicz, J., Doray, B. and Addor, M.C. EUROCAT Antiepileptic Drug Working Group (2009) Does lamotrigine use in pregnancy increase orofacial cleft risk relative to other malformations? Neurology, 71, (10), 714-722. (doi:10.1212/01.wnl.0000316194.98475.d8) (PMID:18650491)

Douglas, A.G.L., Rafferty, H., Hodgkins, P., Nagra, A., Foulds, N.C., Morgan, M. and Temple, I.K. (2010) Persistent fetal vasculature and severe protein C deficiency. Molecular Syndromology, 1, (2), 82-86. (doi:10.1159/000302372) (PMID:21045961)

Douglas, Andrew G. L. (2010) No blind alleys in the clinic. British Medical Journal, 340, c2754. (doi:10.1136/bmj.c2754)

Douglas, J., Tatton-Brown, K., Coleman, K., Guerrero, S., Berg, J., Cole, T.R., Fitzpatrick, D., Gillerot, Y., Hughes, H.E., Pilz, D., Raymond, F.L., Temple, I.K., Irrthum, A., Schouten, J.P. and Rahman, N. (2005) Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification. Journal of Medical Genetics, 42, (9)(doi:10.1136/jmg.2005.031930)

Douglas, Jenny, Coleman, Kim, Tatton-Brown, Katrina, Hughes, Helen E., Temple, I. Karen, Cole, Trevor R.P. and Rahman, Nazneen (2005) Evaluation of NSD2 and NSD3 in overgrowth syndromes. European Journal of Human Genetics, 13, (2), 150-153. (doi:10.1038/sj.ejhg.5201298)

Douglas, Jenny, Hanks, Sandra, Temple, I. Karen, Davies, Sally, Murray, Alexandra, Upadhyaya, Meena, Tomkins, Susan, Hughes, Helen E., Cole, Trevor R.P. and Rahman, Nazneen (2003) NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. American Journal of Human Genetics, 72, (1), 132-143. (doi:10.1086/345647)

Dowling, James J., Lillis, Suzanne, Amburgey, Kimberley, Zhou, Haiyan, Al-Sarraj, Safa, Buk, Stefan J.A., Wraige, Elizabeth, Chow, Gabby, Abbs, Stephen, Leber, Steven, Lachlan, Katherine, Baralle, Diana, Taylor, Alexandra, Sewry, Caroline, Muntoni, Francesco and Jungbluth, Heinz (2011) King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscular Disorders, 21, (6), 420-427. (doi:10.1016/j.nmd.2011.03.006) (PMID: 21514828)

Draper, Elizabeth S., Rankin, Judith, Tonks, Ann, Boyd, Patricia, Wellesley, Diana, Tucker, David and Budd, Judith BINOCAR Management Committee (2009) Congenital abnormalities: data needed to establish causes. British Medical Journal, 339, b3428. (doi:10.1136/bmj.b3428)

Dufke, Andreas, Vollmer, Brigitte, Kendziorra, Heidemarie, Mackensen-Haen, Susanne, Orth, Ulrike, Orlikowsky, Thorsten and Gal, Andreas (2001) Hydrops fetalis in three male fetuses of a female with incontinentia pigmenti. Prenatal Diagnosis, 21, (12), 1019-1021. (doi:10.1002/(ISSN)1097-0223) (PMID:11746157)

Duhoux, Francois P., Auger, Nathalie, De Wilde, Sigrid, Wittnebel, Sebastian, Ameye, Geneviève, Bahloula, Khadija, Van den Berg, Catherine, Libouton, Jeanne-Marie, Saussoy, Pascale and Grand, Francis H. (2011) Letter to the Editor. The t(1;9)(p34;q34) fusing ABL1 with SFPQ, a pre-mRNA processing gene, is recurrent in acute lymphoblastic leukemias. Leukemia Research, 35, (7), e114-e117. (doi:10.1016/j.leukres.2011.02.011) (PMID:21388681)

Dunn, C., Bateman, M., Baralle, D., Willatt, L. and Simonic, I. (2007) Terminal deletion of an inherited 8p paracentric inversion: broken recombinant or independent deletion? Journal of Medical Genetics, 44, pp.S107.

Dunn, C., Bateman, M., Baralle, D., Willatt, L. and Simonic, I. (2007) Terminal deletion of an inherited 8p paracentric inversion broken recombinant or independent deletion? Journal of Medical Genetics, 44, pp.S107.

Dupuis, Josée, Langenberg, C., Propkopenko, I., Saxena, R., Soranzo, N., Jackson, A.U., Wheeler, E., Glazer, N.L., Bouatia-Naji, N., Gloyn, A.L., Lindgren, C.M., Magi, R., Morris, A.P., Randall, J., Johnson, T., Elliott, P., Rybin, D., Throleifsson, G., Steinthordottir, V., Henneman, P., Grallert, H., Dehghan, A., Hottenga, J.J., Franklin, C., Navarro, P., Song, K., Goel, A., Perry, J.R.B, Egan, J.M., Lajunen, T., Grarup, N., Sparso, T., Doney, A., Voight, B.F., Stringham, H.M., Kanoni, M., Shrader, P., Cavalcanti-Proenca, C., Kumari, M., Qi, L., Timpson, N., Gieger, C., Zabena, C., Rocheleau, G., Ingelsson, E., Ping, A., O'Connell, J., Luan, J., Elliott, A., McCarroll, S.A., Payne, F., Roccasecca, R.M., Pattou, F., Sethupathy, P., Ardlie, K., Ariyurek, Y., Balkau, B., Barter, P., Beilby, J.P., Ben-Shlomo, Y., Benediktsson, R., Bennett, A.J., Bergmann, S., Bochud, M., Boerwinkle, E., Bonneford, A., Bonnycastle, L.L., Borch-Johnsen, K., Bottcher, Y., Brunner, E., Bumpstead, S.J., Charpenteir, G., Chen, Y-D., Chines, P., Clarke, R., Coin, L.J.M., Cooper, M.N., Cornelis, M., Crawford, G., Crisponi, L., Day, I.N.M., de Geus, E.J., Delplanque, J., Dina, C., Erdos, M., Fedson, A.C., Fischer-Rosinsky, A., Forouhi, N.G., Fox, C.S., Frants, R., Franzosi, M.G., Gilan, P., Goodarzi, M.O., Graessler, J., Groves, C.J., Grundy, S., Gwilliam, R., Gyllensten, U., Hadjadi, S., Hallmans, G., Hammond, N., Han, X., Hartikainen, A.L., Hassanali, N., Hayward, C., Heath, S.C., Hercberg, S., Herder, C., Hicks, A.A., Hillman, D.R., Hingorani, A., Hofman, A., Hui, J., Hung, J., Isomaa, B., Johnson, P.R.V., Jorgensen, T., Jula, A., Kaakinen, M., Kaprio, J., Kesaniemi, Y., Kivimaki, M., Knight, B.;, Koskinen, S., Kovacs, P., Kyvik, K.O., Lathrop, G.M., Lawlor, D.A., Le Bacquer, O., Lecoeur, C., Li, Y., Lyssenko, V., Mahley, R., Mangino, M., Manning, A.K., Martinez-Larrad, M.T., McAteer, J.B., McCulloch, L.J., McPherson, R., Meisinger, C., Melzer, D., Meyre, D., Mitchell, B.D., Morken, M.A., Mukherjee, S., Naitza, S., Narisu, N., Neville, M.J., Oostra, B.A., Orru, M., Pakyz, R., Palmer, C.N.A., Paolisso, G., Pattaro, C., Pearson, D., Peden, J.F., Pedersen, N.L., Perola, M., Pfeiffer, A.F.H., Pichler, I., Polasek, O., Posthuma, D., Potter, S.C., Pouta, A., Province, M.A., Psaty, B., Rathmann, W., Rayner, N.W., Rice, K., Ripatti, S., Rivandeneira, F., Roden, M., Rolandsson, O., Sandbaek, A., Sandhu, M., Sanna, S., Sayer, A.A., Scheet, P., Scott, L.J., Seedorf, U., Sharp, S.J., Shields, B., Sigurosson, G., Sijbrands, E.J.G., Silveira, A., Simpson, L., Singleton, A., Smith, N.L., Sovio, U., Swift, A., Syddall, H., Syvanen, A.C., Tanaka, T., Thoranrd, B., Tichet, J., Tonjes, A., Tuomi, T., Uitterlinden, A.G., van Dijk, K.W., van Hoek, M., Varma, D., Visvikis-Siest, S., Vitart, V., Vogelzangs, N., Waeber, G., Wagner, P.J., Walley, A., Walters, G.B., Ward, K.L., Watkins, H., Weddon, M.N., Wild, S.H., Willemsen, G., Witteman, J.C., Yarnell, J.W.G., Zeggini, E., Zelenika, D., Zethelius, B., Zhai, G., Zhao, J.H., Zillikens, M.C., Borecki, I.B., Loos, R.J., Meneton, P., Magnusson, P.K.E., Nathan, D.M., Williams, G.H., Hattersley, A.T., Silander, K., Salomaa, V., Smith, G.D., Bornstein, S.R., Schwarz, P., Spranger, J., Karpe, F., Shuldiner, A.R., Cooper, C., Dedoussis, G.V., Serrano-Rios, M., Morris, A.D., Lind, L., Palmer, L.J., Hu, F.B., Franks, P.W., Ebrahim, S., Marmot, M., Kao, W.H.L., Pankow, J.S., Sampson , M.J., Kuusisto, J., Laakso, M., Hansen, T., Pedersen, O., Pramstaller, P.P., Wichmann, H.E., Illig, T., Rudan, I., Wright, A.F., Stumvoll, M., Campbell, H., Wilson, J.F, Hamsten, A., Bergman, R.N., Buchanan, T.A., Collins, F.S., Mohlke, K.L., Tuomilehto, J., Valle, T.T., Altshuler, D., Rotter, J.I., Siscovick, D.S., Penninx, B.W.J.H., Boomsma, D.I., Deloukas, P., Spector, T.D., Frayling, T.M., Ferrucci, L., Kong, A., Thorsteindottir, U., Stefansson, K., van Duijn, C.M, Aulchenko, Y.S., Cao, A., Scuteri, A., Schlessinger, D., Uda, M., Ruokonen, A., Jarvelin, M.R., Waterworth, D.M., Vollenweider, P., Peltonen, L., Mooser, V., Abecasis, G.R., Wareham, N.J., Sladek, R., Froguel, P., Watanabe, R.M., Meigs, J.B., Groop, L., Boehnke, M., McCarthy, M.I., Florez, J. and Barrosofor, I. GIANT Consortium, DIAGRAM Consortium, Global BPgen Consortium, Procardis Consortium and MAGIC Investigators (2010) New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nature Genetics, 42, (2), 105-116. (doi:10.1038/ng.520)

Durand, Adeline and Brown, Tom (2007) Synthesis and properties of oligonucleotides containing a cholesterol thymidine monomer. Nucleosides, Nucleotides and Nucleic Acids, 26, (6 & 7), 785-794. (doi:10.1080/15257770701501534)

Dyadyusha, L., Yin, H., Jaiswal, S., Brown, T., Baumberg, J.J., Booy, F.P. and Melvin, T. (2005) Quenching of CdSe quantum dot emission, a new approach for biosensing. Chemical Communications, 25, 3201-3203. (doi:10.1039/b500664c)

Dyer, Martin J.S., Akasaka, Takashi, Balasas, Theodore, Russell, Lisa, Sugimoto, Kei-Ji, Majid, Aneela, Brown, David G., Cain, Kelvin, Strefford, Jon C., Harrison, Christine J. and Siebert, Reiner (2005) Involvement of the CEBP gene family in four IGH@ chromosomal translocations in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Blood, 106, (11), p.797A.

Eccles, D., Bunyan, D., Barker, S. and Castle, B. (2005) BRCA1 mutation and neuronal migration defect: Implications for chemoprevention. Journal of Medical Genetics, 42, (e24)(doi:10.1136/jmg.2004.028084)

Eccles, D.M. (2004) Hereditary cancer: guidelines in clinical practice. Breast and ovarian cancer genetics. Annals of Oncology, 15, (4), iv133-iv138. (doi:10.1093/annonc/mdh917)

Eccles, D.M. and Pichert, G. (2005) Familial non-BRCA1/BRCA2-associated breast cancer. The lancet oncology, 6, (9), 705-711. (doi:10.1016/S1470-2045(05)70318-1)

Eccles, Diana (2010) Development of genetic testing for breast, ovarian and colorectal cancer predisposition: a step closer to targeted cancer prevention. Current Drug Targets (PMID:21158705)

Eccles, Diana, Harvey, John, Bateman, Adrian and Ross, Fiona (2001) A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour. Journal of Medical Genetics, 38, (12), 861-863.

Eccles, Diana M. (2003) Genetic testing for BRCA1 mutation in the UK. The Lancet, 361, (9352), 178-179. (doi:10.1016/S0140-6736(03)12213-1)

Eccles, Diana M. (2008) Identification of personal risk of breast cancer: genetics. Breast Cancer Research, 10, (Suppl 4), p.S12. (doi:10.1186/bcr2172)

Eddy, C., Boyle, T.A., Maloney, V., Wellesley, D. and Crolla, J.A. (2005) Insertional interstitial duplication of 1(p34.3-p35.2): an association with co-arctation of the aorta and hypospadias? Journal of Medical Genetics, 42, pp.S77.

Edwards, C. J., Connellan, J., Wallace, P. F., Park, S. D. E., McCormick, F. M., Olsaker, I., Eythórsdóttir, E., MacHugh, D. E., Bailey, J. F. and Bradley, D. G. (2003) Feasibility and utility of microsatellite markers in archaeological cattle remains from a Viking Age settlement in Dublin. Animal Genetics, 34, (6), 410-416. (doi:10.1046/j.0268-9146.2003.01043.x)

Edwards, Emma, Yearwood, Catharina, Sillibourne, Julie, Baralle, Diana and Eccles, Diana (2009) Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer. Familial Cancer, 8, (4), 479-482. (doi:10.1007/s10689-009-9270-8)

Edwards, Richard J., Sockett, R. Elizabeth and Brookfield, John F.Y. (2002) A simple method for genome-wide screening for advantageous insertions of mobile DNAs in Escherichia coli. Current Biology, 12, (10), 863-867. (doi:10.1016/S0960-9822(02)00837-0)

Eggermann, Thomas, Buiting, Karin and Temple, I. Karen (2011) Clinical utility gene card for: Silver–Russell syndrome. European Journal of Human Genetics, 19, (3)(doi:10.1038/ejhg.2010.202) (PMID:21150879)

Eischen, Christine M., Packham, Graham, Nip, John, Fee, Brian E., Hiebert, Scott W., Zambetti, Gerard P. and Cleveland, John L. (2001) Bcl-2 is an apoptotic target suppressed by both c-Myc and E2F-1. Oncogene, 20, (48), 6983-6993.

Ekholm, Anders, Jokinen, Jukka, McDonald, John W. and Smith, Peter W.F. (2006) A latent class model for bivariate binary responses from twins. Southampton, UK, University of Southampton, Southampton Statistical Sciences Research Institute, 23pp. (S3RI Methodology Working Papers,(M06/10))

El-Serafi, A.T., Wilson, D.I., Roach, H.I. and Oreffo, R.O.C. (2011) Developmental plasticity of human foetal femur-derived cells in pellet culture: self assembly of an osteoid shell around a cartilaginous core. European Cells & Materials, 21, 558-567. (PMID:21710446)

Elahi, M., Mukhtar, D., Kahraman, N., Cagampang, F., Ohri, S. and Hanson, M. (2007) Statin therapy improves blood presssure and lipid profiles in hypercholesterolemic mothers but not C-reactive proteins levels or endothelian progenitor cell expression. Early Human Development, 83, (Supplement 1), S60-S61. (doi:10.1016/S0378-3782(07)70099-3)

Elanko, Navaratnam, Sibbring, Julie S., Metcalfe, Kay A., Clayton-Smith, Jill, Donnai, Dian, Temple, I. Karen, Wall, Steven A. and Wilkie, Andrew O.M. (2001) Research Article. A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals. Human mutation, 18, (6), 535-541. (doi:10.1002/humu.1230)

Ellard, S., Flanagan, S.E., Girard, C.A., Patch, A.M., Harries, L.W., Parrish, A., Edghill, E.L., Mackay, D.J., Proks, P., Shimomura, K.H., Carson, D.J., Shield, J.P., Hattersley, A.T. and Ashcroft, F.M. (2007) Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. American Journal of Human Genetics, 81, (2), 375-382. (doi:10.1086/519174)

Ellard, S., Gloyn, A.L., Edghill, E.L., Pearson, E.R., Mackay, D., Temple, I.K., Shield, J., Noyes, K., Gillespie, K.M., Lambert, A.P. and Gale, E.A.M. (2004) Activating mutations in the KCNJ11 gene encoding the ATP-sensitive potassium channel subunit Kir6.2 are associated with a spectrum of early-onset syndromic and non-syndromic diabetes. Journal of Medical Genetics, 41, pp.S19.

Elles, R., Cross, N., Gokhale, D., Harvey, J., Ramsden, S., Barber, J., Wallace, A. and Day, I. (2002) The National Genetics Reference Laboratories. Journal of Medical Genetics, 39, pp.S26.

Elling, Christian, Erben, Phillipp, Walz, Christoph, Frickenhaus, Marie, Schemionek, Mirle, Stehling, Martin, Serve, Hubert, Cross, Nicholas C.P., Hochhaus, Andreas, Hofmann, Wolf-Karsten, Berdel, Wolfgang E., Muller-Tidow, Carsten, Reiter, Andreas and Koschmieder, Steffen (2011) Novel imatinib-sensitive PDGFRA activating point mutations in hypereosinophilic syndrome induce growth factor independence and leukemia-like disease. Blood, 117, (10), 2935-2943. (doi:10.1182/blood-2010-05-286757) (PMID:21224473)

Emery, Jon, Lucassen, Anneke and Murphy, Michael (2001) Common hereditary cancers and implications for primary care. Lancet, 358, (9275), 56-63. (doi:10.1016/S0140-6736(00)05257-0)

Ennis, S., Collins, A. and Morton, N.E. (2003) The use of SNP-based haplotypes and LD blocks to positionally clone modifying determinants of expansion of the Fragile X triplet repeat. American Journal of Human Genetics, 73, (5), 377.

Ennis, S., Collins, A. and Morton, N.E. (2003) SNP-based haplotypes and LD blocks in the fragile X region. Journal of Medical Genetics, 40, p.S15.

Ennis, S., Collins, A., Murray, A., Brightwell, G. and Morton, N.E. (2001) LD, FRAX and sequence-based maps. American Journal of Human Genetics, 69, (4), supplement 1, 466.

Ennis, S., Collins, A., Murray, A., MacPherson, J.N. and Morton, N.E. (2000) Allelic association in the FRAX region. Annals of Human Genetics, 64, (6), 513-518. (doi:10.1046/j.1469-1809.2000.6460513.x) (PMID:11281215)

Ennis, S., Collins, A., Tapper, W., Murray, A., MacPherson, J.N. and Morton, N.E. (2001) Allelic association discriminates draft orders. Annals of Human Genetics, 65, (5), 503-504. (doi:10.1046/j.1469-1809.2001.6550503.x)

Ennis, S., Gibson, J., Griffiths, H., Bunyan, D., Cree, A.J., Robinson, D., Self, J., MacLeod, A. and Lotery, A. (2010) Prevalence of myocilin gene mutations in a novel UK cohort of POAG patients. Eye, 24, 328-333. (doi:10.1038/eye.2009.73)

Ennis, S., Murray, A., Brightwell, G., Morton, N.E. and Jacobs, P.A. (2007) Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes. Human Mutation, 28, (12), 1216-1224. (doi:10.1002/humu.20600)

Ennis, Sarah (2008) Linkage disequilibrium as a tool for detecting signatures of natural selection. In, Collins, Andrew R. (ed.) Linkage Disequilibrium and Association Mapping: Analysis and Applications. Totowa, USA, Humana, 59-70. (Methods in Molecular Biology, 376). (doi:10.1007/978-1-59745-389-9_5)

Ennis, Sarah, Gibson, Jane, Cree, Angela J., Collins, Andrew and Lotery, Andrew J. (2010) Support for the involvement of complement factor I in age-related macular degeneration. European Journal of Human Genetics, 18, (1), 15-16. (doi:10.1038/ejhg.2009.113)

Ennis, Sarah, Goverdhan, Srini, Cree, Angela, Hoh, Josephine, Collins, Andrew and Lotery, Andrew (2007) Fine-scale linkage disequilibrium mapping of age-related macular degeneration in the complement factor H gene region. British Journal of Ophthalmology, 91, (7), 966-970. (doi:10.1136/bjo.2007.114090)

Ennis, Sarah, Jomary, Catherine, Mullins, Robert, Cree, Angela, Chen, Xiaoli, Macleod, Alex, Jones, Stephen, Collins, Andrew, Stone, Edwin and Lotery, Andrew (2008) Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study. Lancet, 372, (9652), 1828-1834. (doi:10.1016/S0140-6736(08)61348-3) (PMID:18842294)

Ennis, Sarah, Maniatis, Nikolas and Collins, Andrew (2001) Allelic association and disease mapping. Briefings in Bioinformatics, 2, (4), 375-387. (doi:10.1093/bib/2.4.375)

Ennis, Sarah, Murray, Anna and Morton, Newton E. (2001) Haplotypic determinants of instability in the FRAX region: Concatenated mutation or founder effect? Human Mutation, 18, (1), 61-69. (doi:10.1002/humu.1150)

Ennis, Sarah, Ward, Daniel and Murray, Anna (2006) Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers. European Journal of Human Genetics, 14, (2), 253-255. (doi:10.1038/sj.ejhg.5201510)

Erben, Philipp, Gosenca, Darko, Muller, Martin C., Reinhard, Jelena, Score, Joannah, del Valle, Francesco, Walz, Chistoph, Mix, Jurgen, Metzgeroth, Georgia, Ernst, Thomas, Haferlach, Claudia, Cross, Nicholas C.P., Hochhaus, Andreas and Reiter, Andreas (2010) Screening for diverse PDGFRA or PDGFRB by fusion genes is facilitated by generic quantitative RT-PCR. Haematologica, 95, (5), 738-744. (doi:10.3324/haematol.2009.016345)

Erenpreisa, J., Kalejs, M., Ianzini, F., Kosmacek, E.A., Mackey, M.A., Emzinsh, D., Cragg, M.S., Ivanov, A. and Illidge, T.M. (2005) Segregation of genomes in polyploid tumour cells following mitotic catastrophe. Cell biology international, 29, (12), 1005-1011. (doi:10.1016/j.cellbi.2005.10.008)

Eriksson, J., Lindi, V., Uusitupa, M., Forsen, T., Laakso, M., Osmond, C. and Barker, D. (2003) The effects of the Pro12Ala polymorphism of the PPARγ-2 gene on lipid metabolism interact with body size at birth. Clinical Genetics, 64, (4), 366-370. (doi:10.1034/j.1399-0004.2003.00150.x)

Eriksson, Johan G., Lindi, Virpi, Uusitupa, Matti, Forsen, Tom J., Laakso, Markku, Osmond, Clive and Barker, David J. P. (2002) The effects of the Pro12Ala polymorphism of the peroxisome proliferator-activated receptor-γ2 gene on insulin sensitivity and insulin metabolism interact with size at birth. Diabetes, 51, (7), 2321-2324.

Eriksson, Per, Deguchi, Hiroyuki, Samnegard, Ann, Lundman, Pia, Boquist, Susanna, Tornvall, Per, Ericsson, Carl-Goran, Bergstrand, Lott, Hansson, Lars-Olof, Ye, Shu and Hamsten, Anders (2004) Human evidence that the Cystatin C Gene is implicated in focal progression of Coronary Artery Disease. Arteriosclerosis, Thrombosis, and Vascular Biology, 24, (3), 551-557. (doi:10.1161/01.ATV.0000117180.57731.36)

Ernst, Thomas, Chase, Andrew, Zoi, Katerina, Waghorn, Katherine, Hidalgo-Curtis, Claire, Score, Joannah, Jones, Amy, Grand, Frances, Reiter, Andreas, Hochhaus, Andreas and Cross, Nicholas C. P. (2010) Transcription factor mutations in myelodysplastic/myeloproliferative neoplasms. Haematologica, 95, (9), 1473-1480. (doi:10.3324/haematol.2010.021808)

Ernst, Thomas, Chase, Andrew J., Score, Joannah, Hidalgo-Curtis, Claire E., Bryant, Catherine, Jones, Amy V., Waghorn, Katherine, Zoi, Katerina, Ross, Fiona M., Reiter, Andreas, Hochhaus, Andreas, Drexler, Hans G., Duncombe, Andrew, Cervantes, Francisco, Oscier, David, Boultwood, Jacqueline, Grand, Francis H. and Cross, Nicholas C.P. (2010) Letter. Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders. Nature Genetics, 42, (8), 722-726. (doi:10.1038/ng.621)

Ernst, Thomas, Score, Joannah, Deininger, Michael, Hidalgo-Curtis, Claire, Lackie, Peter, Ershler, William B., Goldman, John M., Cross, Nicholas C.P. and Grand, Francis H. (2011) Identification of FOXP1 and SNX2 as novel ABL1 fusion partners in acute lymphoblastic leukaemia. British Journal of Haematology, 153, (1), 43-46. (doi:10.1111/j.1365-2141.2010.08457.x)

Erotokritou-Mulligan, Ioulietta, Bassett, E. Eryl, Cowan, David A., Bartlett, Christiaan, Milward, Polly, Sartorio, Alessandro, Sönksen, Peter H. and Holt, Richard I.G. (2010) The use of growth hormone (GH)-dependent markers in the detection of GH abuse in sport: physiological intra-individual variation of IGF-I, type 3 pro-collagen (P-III-P) and the GH-2000 detection score. Clinical Endocrinology, 72, (4), 520-526. (doi:10.1111/j.1365-2265.2009.03668.x)

Errington, F., Jones, J., Merrick, A., Bateman, A., Harrington, K., Gough, M., O'Donell, D., Selby, P., Vile, R. and Melcher, A. (2006) Fusogenic membrane glycoprotein-mediated tumour cell fusion activates human dendritic cells for enhanced IL-12 production and T-cell priming. Gene Therapy, 13, (2), 138-149. (doi:10.1038/sj.gt.3302609)

Evangelou, Evangelos, Valdes, Ana M., Kerkhof, Hanneke J., Styrkarsdottir, Unnur, Zhu, YanYan, Meulenbelt , Ingrid, Lories, Rik J., Karassa, Fontini B., Tylzanowski, Przemko, Bos, Steffan D., Akune, Toru, Arden, Nigel K., Carr, Andrew, Chapman, Kay, Cupples, L. Adrienne, Dai, Jin, Deloukas, Panos, Doherty, Sally, Engstrom, Gunnar, Gonzalez, Antonio, Halldorsson, Bjarni V., Hammond, Christina L., Hart, Deborah J., Helgadottir, Hafdis, Hofman, Albert, Ikegawa, Shiro, Ingvasson, Thorvaldur, Jiang, Qing, Jonsson, Helgi, Kaprio, Jaakko, Kawaguchi, Hiroshi, Kisand, Kalle, Kloppenburg, Margreet, Kujala, Urho M., Lohmander, L. Stefan, Loughlin, John, Luyten, Frank P., Mabuchi, Akihiko, McCaskie, Andrew, Nakajima, Masahiro, Nillson, Peter M., Nishida, Nao, Ollier, William E., Panoutsopoulou, Kalliope, van der Putte, Tom, Ralston, Stuart H., Rivadeneira, Fernado, Saarela, Janna, Schulte-Merker, Stefan, Shi, Dongquan, Slagboom, P. Eline, Sudo, Akhiro, Tamm, Agu, Tamm, Ann, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tsezou, Aapasia, Wallis, Gillian A., Wilkinson, J. Mark, Yoshimura, Noriko, Zeggini, Eleftheria, Zhai, Guangju, Zhang, Feng, Jonsdottir, Ingileif, Uitterlinden, Andre G., Felson, David T., van Meurs, Joyce B., Stefansson, Kari, Ioannidis, John P. and Spector, Timothy D. arcOGEN Consortium and Translation Research in Europe Applied Technologies for Osteoarthritis (2011) Meta-analysis of genome-wide associations studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22. Annals of the Rheumatic Diseases, 70, (2), 349-355. (doi:10.1136/ard.2010.132787) (PMID:21068099)

Evans, D. G. R., Eccles, D. M., Rahman, N., Young, K., Bulman, M., Amir, E., Shenton, A., Howell, A. and Lalloo, F. (2004) A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO. Journal of Medical Genetics, 41, (6), 474-480.

Evans, D.G.R., Baildam, A.D., Anderson, E., Brain, A., Shenton, A., Vasen, H.F.A., Eccles, D., Lucassen, A., Pichert, G., Hamed, H., Moller, P., Maehle, L., Morrison, P.J., Stoppart-Lyonnet, D., Gregory, H., Smyth, E., Niederacher, D., Nestle-Krämling, C., Campbell, J., Hopwood, P., Lalloo, F. and Howell, A. (2009) Risk reducing mastectomy: outcomes in 10 European centres. Journal of Medical Genetics, 46, (4), 254-258. (doi:10.1136/jmg.2008.062232)

Evans, Nicholas D., Gentleman, Eileen and Polak, Julia M. (2006) Scaffolds for stem cells. Materials Today, 9, (12), 26-33. (doi:10.1016/S1369-7021(06)71740-0)

Evans, Nicholas D., Minelli, Caterina, Gentleman, Eileen, LaPointe, Vanessa, Patankar, Sameer N., Kallivretaki, Maria, Chen, Xinyong, Roberts, Clive J. and Stevens, Molly M. (2009) Substrate stiffness affects early differentiation events in embryonic stem cells. European cells and materials, 18, 1-14. (PMID:19768669)

Evans, Nicholas D. and Polak, Julia M. (2008) Embryonic stem cells and their application in regenerative medicine and tissue engineering. In, Gene and Cell Therapy: Therapeutic Mechanisms and Strategies. 3rd edition. Abingdon, GB, CRC Press, 581-594.

Fagnani, M., Barash, Y., Misquitta, C., Pan, Q., Saltzman, A.L., Shai, O., Lee, L., Rozenhek, A., Mohammad, N., Willaime-Morawek, S., Babak, T., Zhang, W., Hughes, T.R., van der Kooy, D., Frey, B.J. and Blencowe, B.J. (2007) Functional coordination of alternative splicing in the mammalian central nervous system. Genome Biology, 8, (6), R108. (doi:10.1186/gb-2007-8-6-r108)

Fairbanks, L.D., Marinaki, A.M., Carrey, E.A., Hammans, S.R. and Duley, J.A. (2002) Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE). Journal of Inherited Metabolic Disease, 25, (7), 603-604. (doi.1023/A:1022007827133)

Fant, Kristina, Esbjörner, Elin, Jenkins, Alan, Grossel, Martin C., Lincoln, Per and Nordén, Bengt (2010) Effects of PEGylation and acetylation of PAMAM dendrimers on DNA Binding, cytotoxicity and in vitro transfection efficiency. Molecular Pharmaceutics, 7, (5), 1734-1746. (doi:10.1021/mp1001312) (PMID:20695423)

Fauser, Bart C.J.M. and Macklon, N.S. (1999) FSH and follicular development. In, Jansen, R. and Mortimer, D. (eds.) Towards Reproductive Certainty, Fertility and Genetics beyond 1999 - Proceedings of the 11th World Congress on In Vitro Fertilization and Human Reproductive Genetics. London, GB, Informa Healthcare, 177-185.

Federenko, Ilona S., Schlotz, Wolff, Kirschbaum, Clemens, Bartels, Meike, Hellhammer, Dirk H. and Wüst, Stefan (2006) The heritability of perceived stress. Psychological Medicine, 36, (3), 375-385. (doi:10.1017/S0033291705006616)

Ferdinandusse, Sacha, Barker, Simon, Lachlan, Katherine, Duran, Marinus, Waterham, Hans R., Wanders, Ronald J. A. and Hammans, Simon (2010) Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy. Journal of Neurology, Neurosurgery and Psychiatry, 81, (3), 310-312. (doi:10.1136/jnnp.2009.176255)

Ferrari, Julia, Muller, Christine B., Kraaijeveld, Alex R. and Godfray, H. Charles J. (2001) Clonal variation and covariation in aphid resistance to parasitoids and a pathogen. Evolution: International Journal of Organic Evolution, 55, (9), 1805-1814. (doi:10.1554/0014-3820(2001)055[1805:CVACIA]2.0.CO;2)

Fickelscher, I., Liehr, T., Watts, K., Bryant, V., Barber, J.C., Heidemann, S., Siebert, R., Hertz, J.M., Tumer, Z. and Simon Thomas, N. (2007) The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity. American Journal of Human Genetics, 81, (4), 847-856. (doi:10.1086/521226)

Fiegler, H., Gribble, S.M., Burford, D.C., Carr, P., Prigmore, E., Porter, K.M., Clegg, S., Crolla, J.A., Dennis, N.R., Jacobs, P. and Carter, N.P. (2003) Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays. Journal of Medical Genetics, 40, (9), 664-670. (doi:10.1136/jmg.40.9.664)

Fisher, A., Blair, A., Strike, P. and Ross, F.M. (2007) B lymphoid growth factors significantly increase chromosome quality in cytogenetic cultures of ALL. Journal of Medical Genetics, 44, pp.S33.

Fisher, A., Fisher, A.M., Cabanas, E.D., Protheroe, R., Cranfield, T., Duncombe, A. and Ross, F.M. (2005) Cytogenetic analysis can be the most important diagnostic indicator in hepatosplenic T-cell lymphoma (HSTCL). Journal of Medical Genetics, 42, pp.S72.

Fisher, A., Thomas, S., Joyce, C., Strike, P. and Temple, K. (2001) A patient with growth retardation and a duplication of the Beckwith Wiedemann critical region of maternal origin. Journal of Medical Genetics, 38, pp.S19.

Fisher, A., Tyreman, C., Cullis, J. and Ross, F.M. (2003) Five cases of myeloid neoplasia with idic(21)(q22): a possible novel mechanism of chromosome 21 amplification. Journal of Medical Genetics, 40, pp.S50.

Fisher, A., Tyreman, C., Symons, C., Davis, L., Strike, P. and Ross, F. (2004) Improving the mitotic index in cultures of bone marrow with myeloid neoplasia. Journal of Medical Genetics, 41, pp.S52.

Fisher, A.M., Strike, P., Scott, C. and Moorman, A.V. (2005) Breakpoints of variant 9;22 translocations in chronic myeloid leukemia locate preferentially in the CG-richest regions of the genome. Genes, chromosomes and cancer, 43, (4), 383-389. (doi:10.1002/gcc.20196)

Fisher, Andrew M., Thomas, Simon N., Cockwell, Annette, Stecko, Olga, Kerr, Bronwyn, Temple, Karen I. and Clayton, Peter (2002) Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. Human Genetics, 111, (3), 290-296. (doi:10.1007/s00439-002-0787-2)

Flavell, D., Talmud, P.J., Day, I.N.M., Miller, G. and Humphries, S.E. (2001) Gene: environment interactions in determination of risk of coronary artery disease. Journal of Medical Genetics, 38, pp.S12.

Fleming, T.P., Javed, Q., Collins, J.E. and Hay, M. (1993) Biogenesis of structural intercellular junctions during cleavage in the mouse embryo. Journal of Cell Science, 17, 119-125. (PMID:8144686)

Fliers, Ellen A., Vasquez, Alejandro Arias, Poelmans, Geert, Rommelse, Nanda, Altink, Marieke, Buschgens, Cathelijne, Asherson, Philip, Banaschewski, Tobias, Ebstein, Richard, Gill, Michael, Miranda, Ana, Mulas, Fernando, Oades, Robert D., Roeyers, Herbert, Rothenberger, Aribert, Sergeant, Joseph, Sonuga-Barke, Edmund, Steinhausen, Hans-Christoph, Faraone, Stephen V., Buitelaar, Jan K. and Franke, Barbara (2011) Genome-wide association study of motor coordination problems in ADHD identifies genes for brain and muscle function. World Journal of Biological Psychiatry(doi:10.3109/15622975.2011.560279) (PMID:21473668)

Forconi, Francesco, Sahota, Surinder S., Raspadori, Donatella, Ippoliti, Micaela, Babbage, Gavin, Lauria, Francesco and Stevenson, Freda K. (2004) Hairy cell leukemia: at the crossroad of somatic mutation and isotype switch. Blood, 104, (10), 3312-3317. (doi:10.1182/blood-2004-03-0950)

Forconi, Francesco, Sahota, Surinder S., Raspadori, Donatella, Mockridge, Christopher I., Lauria, Francesco and Stevenson, Freda K. (2001) Tumor cells of hairy cell leukemia express multiple clonally related immunoglobulin isotypes via RNA splicing. Blood, 98, (4), 1174-1181.

Foroni, Letizia, Wilson, Gill, Gerrard, Gareth, Mason, Joanne, Grimwade, David, White, Helen E., de Castro, David Gonzalez, Austin, Stephen, Awan, Abida, Burt, Emma, Clench, Tim, Farruggia, Joanna, Hancock, Jeremy, Irvine, Alexandra E., Kizilors, Aytug, Langabeer, Stephen, Milner, Benedict J., Nickless, Guillermina, Schuh, Anna, Sproul, Anne, Wang, Lihui, Wickham, Caroline and Cross, Nicholas C.P. (2011) Guidelines for the measurement of BCR-ABL1 transcripts in chronic myeloid leukaemia. British Journal of Haematology(doi:10.1111/j.1365-2141.2011.08603.x) (PMID:21382019)

Forristal, Catherine E., Wright, Kate L., Hanley, Neil A., Oreffo, Richard O.C. and Houghton, Franchesca D. (2010) Hypoxia inducible factors regulate pluripotency and proliferation in human proliferation in human embryonic stem cells cultured at reduced oxygen tensions. Reproduction, 139, (1), 85-97. (doi:10.1530/REP-09-0300)

Forsti, Asta, Luo, Liping, Vorechovsky, Igor, Soderberg, Magnus, Lichtenstein, Paul and Hemminki, Kari (2001) Cancer Biology. Allelic imbalance on chromosomes 13 and 17 and mutation analysis of BRCA1 and BRCA2 genes in monozygotic twins concordant for breast cancer. Carcinogenesis, 22, (1), 27-33.

Foster, C, Watson, M, Eeles, R, Eccles, D, Ashley, S, Hopwood, P, Evans, D and Psychosocial Study Collaborators (2007) Predictive genetic testing for BRCA1/2 in a UK clinical cohort: three year follow-up. British Journal of Cancer, 96, (5), 718-724. (doi:10.1038/sj.bjc.6603610)

Foster, C., Evans, D. G., Eeles, R., Eccles, D., Ashley, S., Brooks, L., Cole, T., Cook, J., Davidson, R., Gregory, H., Mackay, J., Morrison, P. J. and Watson, M. (2004) Non-uptake of predictive genetic testing for BRCA1/2 among relatives of known carriers: attributes, cancer worry, and barriers to testing in a multicenter clinical cohort. Genetic Testing, 8, (1), 23-29. (doi:10.1089/109065704323016003)

Foster, C., Watson, M., Eeles, R., Eccles, D., Ashley, S., Davidson, R., Mackay, J., Morrison, P.J., Hopwood, P. and Evans, D.G.R. (2007) Predictive genetic testing for BRCA1/2 in a UK clinical cohort: three year follow up. Psycho-Oncology, 16, (S2), S20-S20. (doi:10.1002/pon.1266)

Fotopoulos, V., Gilbert, M.J., Pittman, J.K., Marvier, A.C., Buchanan, A.J., Sauer, N., Hall, J.L. and Williams, L.E. (2003) The monosaccharide transporter gene, AtSTP4, and the cell-wall invertase, Atβfruct1, are induced in Arabidopsis during infection with the fungal biotroph Erysiphe cichoracearum. Plant Physiology, 132, (2), 821-829. (doi:10.1104/pp.103.021428)

Foulds, Nicola, Fairhurst, Jo, Temple, I. Karen, Cade, Steven, Groves, Charlotte and Lancaster, Tessa (2003) A female case of Sedaghatian type spondylometaphyseal dysplasia. American Journal of Medical Genetics Part A, 118A, (4), 377-381. (doi:10.1002/ajmg.a.10199)

Fredell, Louise, Iselius, Lennart, Collins, Andy, Hansson, Einar, Holmner, Staffan, Lundquist, Lars, Läckgren, Göran, Pedersen, Jörgen, Stenberg, Arne, Westbacke, Gunnar and Nordenskjöld, Agneta (2002) Complex segregation analysis of hypospadias. Human Genetics, 111, (3), 231-234. (doi:10.1007/s00439-002-0799-y)

French, P.J., Bliss, T.V.P. and O'Connor, V. (2001) Ntab, a novel non-coding RNA abundantly expressed in rat brain. Neuroscience, 108, (2), 207-215. (doi:10.1016/S0306-4522(01)00408-0)

Friedberg, Jonathan W., Ciminello, Lauren, Kelly, Jennifer, Clawson, Simon, Hoelzer, Dieter, Holte, Harald, LaCasce, Ann S., Mead, Graham, Thomas, Deborah, van Imhoff, Gustaaf W., Cheson, Bruce, Magrath, Ian T. and Fisher, Richard I. (2005) Outcome of patients > age 40 with Burkitt Lymphoma (BL) treated with aggressive chemotherapuetic regimens: results from the international Burkitt Lymphoma collaborative group. Blood, 106, (11), p.273A.

Friedmann, Peter S. (2002) The pathogenesis of atopic eczema. Hospital Medicine, 63, (11), 653-656.

Fry, Fiona H., Holme, Andrea L., Giles, Niroshini M., Giles, Gregory I., Collins, Catriona, Holt, Kim, Pariagh, Sandra, Gelbrich, Thomas, Hursthouse, Michael B., Gutowski, Nick J. and Jacob, Claus (2005) Multifunctional redox catalysts as selective enhancers of oxidative stress. Organic and Biomolecular Chemistry, 3, (14), 2579-2587. (doi: 10.1039/b502197a)

Gadola, S.D. (2009) Interleukin-1 cytokines, inflammasomes, NOD-signalosomes and autoinflammation. Zeitschrift für Rheumatologie, 68, (9), 712-719. (doi:10.1007/s00393-009-0488-5)

Gadola, Stephan D., Koch, Michael, Marles-Wright, Jon, Lissin, Nikolai M., Shepherd, Dawn, Matulis, Gediminas, Harlos, Karl, Villiger, Peter M., Stuart, David I., Jakobsen, Bent K., Cerundolo, Vincenzo and Jones, E. Yvonne (2006) Structure and binding kinetics of three different human CD1d-α-galactosylceramide-specific T cell receptors. Journal of Experimental Medicine, 203, (3), 699-710. (doi:10.1084/jem.20052369)

Gadola, Stephan D., Zaccai, Nathan R., Harlos, Karl, Shepherd, Dawn, Castro-Palomino, Julio C., Ritter, Gerd, Schmidt, Richard R., Jones, E. Yvonne and Cerundolo, Vincenzo (2002) Structure of human CD1b with bound ligands at 2.3 A, a maze for alkyl chains. Nature Immunology, 3, 721-726. (doi:10.1038/ni821)

Gadola, Stephan D., Zaccai, Nathan R., Harlos, Karl, Shepherd, Dawn, Castro-Palomino, Julio C., Ritter, Gerd, Schmidt, Richard R., Jones, E. Yvonne and Cerundolo, Vincenzo (2002) Structure of human CD1b with bound ligands at 2.3 Å, a maze for alkyl chains. Nature Immunology, 3, (8), 721-726. (doi:10.1038/ni821)

Gaertner, Lowell, Sedikides, Constantine, Cai, Huajian and Brown, Jonathon D. (2010) It's not weird, it's wrong: When researchers overlook underlying genotypes, they will not detect universal processes. Behavioral and Brain Sciences, 33, (2-3), 93. (doi:10.1017/S0140525X10000105) (PMID:20546667)

Galanis, Evanthia, Bateman, Andrew, Johnson, Kimberly, Diaz, Rosa M., James, C. David, Vile, Richard and Russell, Stephen J. (2001) Use of viral fusogenic membrane glycoproteins as novel therapeutic transgenes in gliomas. Human Gene Therapy, 12, (7), 811-821. (doi:10.1089/104303401750148766)

Gamble, Clive, Davies, William, Pettitt, Paul, Hazelwood, Lee and Richards, Martin (2005) The archaeological and genetic foundations of the European population during the Late Glacial: implications for ‘agricultural thinking’. Cambridge Archaeological Journal, 15, (2), 193-223. (doi:10.1017/S0959774305000107)

Gao, B., Williams, A., Sewell, A. and Elliott, T. (2004) Generation of a functional, soluble tapasin protein from an alternatively spliced mRNA. Genes & Immunity, 5, (2), 101-108. (doi:10.1038/sj.gene.6364043)

Gao, Runping, McCormick, Christopher J., Arthur, Michael J., Ruddell, Richard, Oakley, Fiona, Smart, David E., Murphy, Frank R., Harris, Mark P. and Mann, Derek A. (2002) High efficiency gene transfer into cultured primary rat and human hepatic stellate cells using baculovirus vectors. Liver International, 22, (1), 15-22. (doi:10.1046/j.0106-9543.2001.01555.x)

Garand, R., Sahota, S.S., Avet-Loiseau, H., Talmant, P., Robillard, N., Moreau, A., Gaillard, F., Stevenson, F.K. and Bataille, R. (2000) IgG-secreting lymphoplasmacytoid leukaemia: a B-cell disorder with extensively mutated VH genes undergoing Ig isotype-switching frequently associated with trisomy 12. British Journal of Haematology, 109, (1), 71-80. (doi:10.1046/j.1365-2141.2000.01971.x)

Gareth, D., Evans, R., Lalloo, F. and Eccles, D. (2006) Optimal selection of individuals for BRCA mutation testing. Journal of Clinical Oncology, 24, (20), 3311. (doi:10.1200/JCO.2006.06.6134)

Garne, Ester, Dolk, Helen, Loane, Maria, Wellesley, Diana, Barisic, Ingeborg, Calzolari, Elisa and Densem, James EUROCAT Working Group (2011) Paper 5: Surveillance of multiple congenital anomalies: Implementation of a computer algorithm in European registers for classification of cases. Birth Defects Research Part A: Clinical and Molecular Teratology, 91, (S1), S44-S50. (doi:10.1002/bdra.20777) (PMID:21384529)

Garner, Sarah A., Everson, J. Sylvia, Lambden, Paul R., Fane, Bentley A. and Clarke, Ian N. (2004) Isolation, molecular characterisation and genome sequence of a bacteriophage (Chp3) from Chlamydophila pecorum. Virus Genes, 28, (2), 207-214. (doi:10.1023/B:VIRU.0000016860.53035.f3)

Garratt, Emma (2010) Leptin and peroxisome proliferator activated receptor alpha: understanding their contribution towards normalising the programmed phenotype in the peripheral tissues of IUGR offspring. University of Southampton, School of Biological Sciences, Doctoral Thesis, 297pp.

Gaunt, Tom R., Chen, Xiao-he, King, Tabitha H.T., Voropanov, Anca, Shu, Ye, Rodriguez, Santiago, Syddall, Holly E., Sayer, Avan Aihie, Dennison, Elaine M., Tabassum, Faiza, Barker, David J.P., Cooper, Cyrus, Phillips, David I.W. and Day, Ian N.M. (2003) Common polymorphism in the growth hormone gene cluster and its relationship with cardiovascular disease and metabolic syndrome. Atherosclerosis, 170, (1), S8-S9. (doi:10.1016/j.atherosclerosis.2003.08.001)

Gaunt, Tom R., Cooper, Jacqueline A., Miller, George J., Day, Ian N.M. and O'Dell, Sandra (2001) Positive associations between single nucleotide polymorphisms in the IGF2 gene region and body mass index in adult males. Human Molecular Genetics, 10, (14), 1491-1501. (doi:10.1093/hmg/10.14.1491)

Gaunt, Tom R., Hinks, Lesley J., Christensen, Mikkel B., Kiessling, Matthew and Day, Ian N.M. (2004) Experience applying Light TyperTM methodology to human SNPs relevant to growth and cardiovascular risk. In, Hecker, Karl H. (ed.) Genetic Variance Detection: Technologies for Pharmacogenomics. USA, DNA Press, 131-144.

Gaunt, Tom R., Hinks, Lesley J., Christensen, Mikkel B., Kiessling, Matthew and Day, Ian N.M. (2006) Experience applying light typerTM methodology to human SNPs relevant to growth and cardiovascular risk. In, Hecker, Karl H. (ed.) Genetic Variance Detection: Technologies for Pharmacogenomics. , DNA Press, 131-144. (Nuts & Bolts).

Gaunt, Tom R., Hinks, Lesley J., Rassoulian, Hamid and Day, Ian N.M. (2003) Manual 768 or 384 well microplate gel 'dry' electrophoresis for PCR checking and SNP genotyping. Nucleic Acids Research, 31, (9)(doi:10.1093/nar/gng048)

Gaunt, Tom R., Rodriguez, Santiago, Zapata, Carlos and Day, Ian N.M. (2006) MIDAS: software for analysis and visualisation of interallelic disequilibrium between multiallelic markers. BMC Bioinformatics, 7, 227. (doi: 10.1186/1471-2105-7-227)

Georgitsi, Marianthi, Raitila, Anniina, Karhu, Auli, van der Luijt, Rob B., Aalfs, Cora M., Sane, Timo, Vierimaa, Outi, Makinen, Markus J., Tuppurainen, Karoliina, Paschke, Ralph, Gimm, Oliver, Koch, Christian A., Gundogdu, Sadi, Lucassen, Anneke, Tischkowitz, Marc, Izatt, Louise, Aylwin, Simon, Bano, Gul, Hodgson, Shirley, De Menis, Ernesto, Launonen, Virpi, Vahteristo, Pia and Aaltonen, Lauri A. (2007) Germline CDKN1B/p27(Kip1) mutation in multiple endocrine neoplasia. Journal of Clinical Endocrinology and Metabolism, 92, (8), 3321-3325. (doi:10.1210/jc.2006-2843)

Gerard, Karen, Tinelli, Michela, Latter, Sue, Blenkinsopp, Alison and Smith, Aleshsa (2012) Valuing the extended role of prescribing pharmacist in general practice: results from a discrete choice experiment. Value in Health (In Press)

Gerrard, Simon R., Srinivasan, Natarajan, Fox, Keith R. and Brown, Tom (2007) Cg base pair recognition within DNA triple helices using N-methyl-3H-pyrrolo[2,3-d]pyrimidin-2(7H)-one nucleoside analogues. Nucleosides, Nucleotides and Nucleic Acids, 26, (10-12), 1363-1367. (doi:10.1080/15257770701533958)

Gestri, Gaia, Osborne, Robert J., Wyatt, Alexander W., Gerrelli, Dianne, Gribble, Susan, Stewart, Helen, Fryer, Alan, Bunyan, David J., Prescott, Katrina, Collin, J. Richard O., Fitzgerald, Tomas, Robinson, David, Carter, Nigel P., Wilson, Stephen W. and Ragge, Nicola K. (2009) Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators. Human Genetics, 126, (6), 791-803. (doi:10.1007/s00439-009-0730-x)

Ghassemifar, M. Reza, Eckert, Judith J., Houghton, Franchesca D., Picton, Helen M., Leese, Henry J. and Fleming, Tom P. (2003) Gene expression regulating epithelial intercellular junction biogenesis during human blastocyst development in vitro. Molecular Human Reproduction, 9, (5), 245-252. (doi:10.1093/molehr/gag033)

Gibson, J., Hakobyan, S., Cree, A.J., Collins, A., Harris, C.L., Ennis, S., Morgan, B.P. and Lotery, A.J. (2012) Variation in complement component C1 inhibitor in age-related macular degeneration. Immunobiology, 217, (2), 251-255. (doi:10.1016/j.imbio.2011.07.015) (PMID:21852020)

Gibson, Jane, Collins, Andrew and Morton, Newton (2008) Individual disease risk and multimetric analysis of Crohn disease. Proceedings of the National Academy of Sciences of the United States of America, 105, (41), 15843-15847. (doi:10.1073/pnas.0808009105)

Gibson, Jane, Cree, Angela, Collins, Andrew, Lotery, Andrew and Ennis, Sarah (2010) Determination of a gene and environment risk model for age-related macular degeneration. British Journal of Ophthalmology, 94, (10), 1382-1387. (doi:10.1136/bjo.2010.182568) (PMID:20576771)

Gibson, Jane, Griffiths, Helen, Collins, Andrew, Yates, John R.W., Folk, James C., East, Jade S., Lotery, Andrew J. and Ennis, Sarah (2011) Letter to the editor: Genetic variants within chromosome 4q28.3 are not reproducibly associated with age-related macular degeneration (AMD). Acta Ophthalmologica, 89, (7), e603-e604. (doi:10.1111/j.1755-3768.2010.01986.x) (PMID:20738259)

Gibson, Jane, Morton, Newton E. and Collins, Andrew (2006) Extended tracts of homozygosity in outbred human populations. Human Molecular Genetics, 15, (5), 789-795. (doi:10.1093/hmg/ddi493)

Gibson, Jane, Tapper, William, Zhang, Weihua, Morton, Newton and Collins, Andrew (2005) Cosmopolitan linkage disequilibrium maps. Human Genomics, 2, (1), 20-27.

Giglio, S., Calvari, V., Gregato, G., Gimelli, G., Camanini, S., Giorda, R., Ragusa, A., Guerneri, S., Selicorni, A., Stumm, M., Tonnies, H., Ventura, M., Zollino, M., Neri, G., Barber, J., Wieczorek, D., Rocchi, M. and Zuffardi, O. (2002) Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. American Journal of Human Genetics, 71, (2), 276-285. (doi:10.1086/341610)

Gilbert, Rodney D., Turner, Claire L.S., Gibson, Jane, Bass, Paul S., Haq, Mushfequr R., Cross, Esta, Bunyan, David J., Collins, Andrew R., Tapper, William J., Needell, Juliet C., Dell, Beverley, Morton, Newton E., Temple, I. Karen and Robinson, David O. (2009) Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis. Kidney International, 75, (4), 415-419. (doi:10.1038/ki.2008.573)

Gilbertson, R., Wickramasinghe, C., Hernan, R., Balaji, V., Hunt, D., Jones-Wallace, D., Crolla, J., Perry, R., Lunec, J., Pearson, A. and Ellison, D. (2001) Clinical and molecular stratification of disease risk in medulloblastoma. British Journal of Cancer, 85, (5), 705-712. (doi:10.1054/bjoc.2001.1987)

Giles, Gregory I. and Sharma, Ram P. (2005) Topoisomerase enzymes as therapeutic targets for cancer chemotherapy. Medicinal Chemistry, 1, (4), 383-394. (doi:10.2174/1573406054368738)

Gill, Harinder K., Parsons, Sian R., Spalluto, Cosma, Davies, AngelaF., Knorz, Victoria J., Burlinson, Clare E.G., Ng, Bee Ling, Carter, Nigel P., Ogilvie, Caroline Makie, Wilson, David I. and Roberts, Roland G. (2009) Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart. European Journal of Human Genetics, 17, (11), 1423-1431. (doi:10.1038/ejhg.2009.91)

Gilling, Mette, Dullinger, Jörn S., Gesk, Stefan, Metzke-Heidemann, Simone, Siebert, Reiner, Meyer, Thomas, Brondum-Nielsen, Karen, Tommerup, Niels, Ropers, Hans-Hilger, Tümer, Zeynep, Kalscheuer, Vera M. and Thomas, N. Simon (2006) Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans. American Journal of Human Genetics, 78, (5), 878-883. (doi:10.1086/503632)

Gitendra Wickremasinghe, R., Prentice, Archibald G. and Steele, Andrew J. (2011) Aberrantly activated anti-apoptotic signalling mechanisms in chronic lymphocytic leukaemia cells: clues to the identification of novel therapeutic targets. British Journal of Haematology(doi:10.1111/j.1365-2141.2011.08676.x) (PMID:21501136)

Glancy, M.T., Barnicoat, A., Vijeratnam, R., De Souza, S., Gilmore, J., Huang, S., Maloney, V.K., Thomas, N.S., Bunyan, D.J., Jackson, A. and Barber, J.C.K. (2007) Transmitted duplications of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties. Journal of Medical Genetics, 44, pp.S59.

Glancy, Mary, Barnicoat, Angela, Vijeratnam, Rajan, de Souza, Sharon, Gilmore, Joanne, Huang, Shuwen, Maloney, Viv K., Thomas, N. Simon, Bunyan, David J., Jackson, A. and Barber, John C.K. (2009) Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties. European Journal of Human Genetics, 17, (1), 37-43. (doi:10.1038/ejhg.2008.133)

Gloyn, A.L., Ellard, S., Shield, J.P.H., Temple, I.K., Mackay, D.J.G., Barrett, T. and Hattersley, A.T. (2001) Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes in European cases of neonatal diabetes. American Journal of Human Genetics, 69, (4), p.607.

Gloyn, A.L., Mackay, D.J.G., Weedon, M.N., McCarthy, M.I., Walker, M., Hitman, G., Sampson, M., Knight, B.A., Hattersley, A.T. and Frayling, T.M. (2005) Assessment of the role of genetic variation in the transient neonatal diabetes (TNDM) region on chromosome 6q24 in type 2 diabetes: a comparative genomic and haplotype approach. Diabetologia, 48, (Supplement 1), p.A119.

Gloyn, Anna L., Cummings, Elizabeth A., Edghill, Emma L., Harries, Lorna W., Scott, Rachel, Costa, Teresa, Temple, I. Karen, Hattersley, Andrew T. and Ellard, Sian (2004) Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel. Journal of Clinical Endocrinology and Metabolism, 89, (8), 3932-3935. (doi: 10.1210/jc.2004-0568)

Gloyn, Anna L., Cummings, Elizabeth A., Edghill, Emma L., Harries, Lorna W., Scott, Rachel, Costa, Teresa, Temple, Karen, Hattersley, Andrew T. and Ellard, Sian (2004) Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel. Journal of Clinical Endocrinology & Metabolism, 89, (8), 3932-3935.

Gloyn, Anna L., Mackay, Deborah J.G., Weedon, Michael N., McCarthy, Mark I., Walker, Mark, Hitman, Graham, Knight, Bridget A., Owen, Katharine R., Hattersley, Andrew T. and Frayling, Timothy M. (2006) Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach. Diabetes, 55, (8), 2272-2276. (doi:10.2337/db06-0216)

Gloyn, Anna L., Pearson, Ewan R., Antcliff, Jennifer F., Proks, Peter, Bruining, Jan, Slingerland, Annabelle S., Howard, Neville, Srinivasan, Shubha, Silva, José M.C.L., Molnes, Janne, Edghill, Emma L., Frayling, Timothy M., Temple, I. Karen, Mackay, Deborah, Shield, Julain P.H., Sumnik, Zdenek, Van Rhijn, Adrian, Wales, J.erry K.H., Clark, Penelope, Gorman, Shaun, Aisenberg, Javier, Ellard, Sian, Njolstad, Pal R., Ashcroft, Frances M. and Hattersley, Andrew T. (2004) Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. New England Journal of Medicine, 350, (18), 1838-1849. (doi:10.1056/NEJMoa032922)

Gloyn, Anna L., Reimann, Frank, Girard, Christophe, Edghill, Emma L., Proks, Peter, Pearson, Ewan R., Temple, I. Karen, Mackay, Deborah J.G., Shield, Julian P.H., Freedenberg, Debra, Noyes, Kathryn, Ellard, Sian, Ashcroft, Frances M., Gribble, Fiona M. and Hattersley, Andrew T. (2005) Relapsing diabetes can result from moderately activating mutations in KCNJ11. Human Molecular Genetics, 14, (7), 925-934. (doi:10.1093/hmg/ddi086)

Gluckman, Peter, Beedle, Alan and Hanson, Mark (2009) Principles of evolutionary medicine, Oxford, GB, Oxford University Press, 312pp.

Gluckman, Peter D., Hanson, Mark A. and Spencer, Hamish G. (2005) Predictive adaptive responses and human evolution. Trends in Ecology & Evolution, 20, (10), 527-533. (doi:10.1016/j.tree.2005.08.001)

Gluckman, Peter D., Lillycrop, Karen A., Vickers, Mark H., Pleasants, Anthony B., Phillips, Emma S., Beedle, Alan S., Burdge, Graham C. and Hanson, Mark A. (2007) Metabolic plasticity during mammalian development is directionally dependent on early nutritional status. Proceedings of the National Academy of Sciences of the United States of America, 104, (31), 12796-12800. (doi:10.1073/pnas.0705667104)

Godfrey, Keith M., Inskip, Hazel M. and Hanson, Mark A. (2011) The long-term effects of prenatal development on growth and metabolism. Seminars in Reproductive Medicine, 29, (3), 257-265. (doi:10.1055/s-0031-1275518) (PMID:21769765)

Godfrey, Keith M., Inskip, Hazel M. and Hanson, Mark A. (2011) The long-term effects of prenatal development on growth and metabolism. Seminars in Reproductive Medicine, 29, (3), 257-265. (doi:10.1055/s-0031-1275518) (PMID:21769765)

Gole, Leena, Crolla, John A., Thomas, Simon N., Jacobs, Patricia A. and Dennis, Nicholas R. (2004) Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12). American Journal of Medical Genetics, 125, (2), 177-180. (doi:10.1002/ajmg.a.20482)

Good, Catriona D., Lawrence, Kate, Thomas, N. Simon, Price, Cathy J., Ashburner, John, Friston, Karl J., Frackowiak, Richard S.J., Oreland, Lars and Skuse, David H. (2003) Dosage-sensitive X-linked locus influences the development of amygdala and orbitofrontal cortex, and fear recognition in humans. Brain, 126, (11), 2431-2446. (doi:10.1093/brain/awg242)

Gosgnach, S., Lanuza, G.M., Butt, S.J.B., Saueressig, H., Zhang, Y., Velasquez, T., Riethmacher, D., Callaway, E.M., Kiehn, O. and Goulding, M. (2006) V1 spinal neurons regulate the speed of vertebrate locomotor outputs. Nature, 440, (7081), 215-219. (doi:10.1038/nature04545)

Goto, M., Brickwood, S., Wilson, D.I., Wood, P.J., Mason, J.I. and Hanley, N.A. (2002) Steroidogenic enzyme expression within the adrenal cortex during early human gestation. Endocrine Research, 28, (4), 641-645.

Goverdhan, S., Howell, W.M., Bacon, H., Chisholm, I.H., Avery, K. and Lotery, A.J. (2004) Association of HLA polymorphisms in age-related macular degeneration. Investigative Ophthalmology & Visual Science, 45, p.U725.

Goverdhan, S.V., Lotery, A.J. and Howell, W.M. (2005) HLA and eye disease: a synopsis. International journal of immunogenetics, 32, (6), 333-342.