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

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Collins, Andrew R. (ed.) (2008) Linkage disequilibrium and association mapping: analysis and applications, Totowa, USA, Humana, 255pp. (Methods in Molecular Biology, 376).

Jones, Caroline (2011) Invited speaker/participant in Genes and Parenting Scoping Meeting. Genes and Parenting Scoping Meeting, London, GB, Jun 2011.

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).

Abdelmotelb, A.M., Rose-Zerilli, M.J., Barton, S.J., Holgate, S.T., Walls, A.F. and Holloway, J.W. (2014) Alpha-tryptase gene variation is associated with levels of circulating IgE and lung function in asthma. Clinical & Experimental Allergy, 44, (6), 822-830. (doi:10.1111/cea.12259). (PMID:24372627).

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). (PMID:15863668).

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). (PMID:17211857).

Abdollahi, Mohammad R., Morrison, Ewan, Sirey, Tamara, Molnar, Zoltan, Hayward, Bruce E., Carr, Ian M., Springell, Kelly, Woods, C. Geoff, Ahmed, Mushtaq, Hattingh, Louise, Corry, Peter, Pilz, Daniela T., Stoodley, Neil, Crow, Yanick, Taylor, Graham R., Bonthron, David T. and Sheridan, Eamonn (2009) Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. The American Journal of Human Genetics, 85, (5), 737-744. (doi:10.1016/j.ajhg.2009.10.007). (PMID:19896110).

Abdollahi, Mohammad Reza, Guthrie, Philip A.I., Smith, George Davey, Lawlor, Debbie A., Ebrahim, Shah and Day, Ian N.M. (2006) Integrated single-label liquid-phase assay of APOE codons 112 and 158 and a lipoprotein study in British women. Clinical Chemistry, 52, (7), 1420-1423. (doi:10.1373/clinchem.2006.067082). (PMID:16644874).

Abraham, Mary B., Carpenter, Karen, Baynam, Gareth S., Mackay, Deborah J.G., Price, Glynis and Choong, Catherine S. (2014) Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome. Journal of Paediatrics and Child Health, n/a-n/a. (doi:10.1111/jpc.12778). (PMID:25418154 ).

Aebi, Marcel, van Donkelaar, Marjolein M.J., Poelmans, Geert, Buitelaar, Jan K., Sonuga-Barke, Edmund J.S., Stringaris, Argyris, consortium, IMAGE, Faraone, Stephen V., Franke, Barbara, Steinhausen, Hans-Christoph and van Hulzen, Kimm J. E. (2015) Gene-set and multivariate genome-wide association analysis of oppositional defiant behavior subtypes in attention-deficit/hyperactivity disorder. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 1-16. (doi:10.1002/ajmg.b.32346). (PMID:26184070).

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).

Agell, Gemma, Rius, Marc and Pascual, Marta (2009) Isolation and characterization of eight polymorphic microsatellite loci for the Mediterranean gorgonian Paramuricea clavata. Conservation Genetics, 10, (6), 2025-2027. (doi:10.1007/s10592-009-9885-1).

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/

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 Turki, Saeed, Manickaraj, Ashok K., Mercer, Catherine L., Gerety, Sebastian S., Hitz, Marc-Phillip, Lindsay, Sarah, D’Alessandro, Lisa C.A., Swaminathan, G. Jawahar, Bentham, Jamie, Arndt, Anne-Karin, Low, Jacoba, Breckpot, Jeroen, Gewillig, Marc, Thienpont, Bernard, Abdul-Khaliq, Hashim, Harnack, Christine, Hoff, Kirstin, Kramer, Hans-Heiner, Schubert, Stephan, Siebert, Reiner, Toka, Okan, Cosgrove, Catherine, Watkins, Hugh, Lucassen, Anneke M., O’Kelly, Ita M., Salmon, Anthony P., Bu’Lock, Frances A., Granados-Riveron, Javier, Setchfield, Kerry, Thornborough, Chris, Brook, J. David, Mulder, Barbara, Klaassen, Sabine, Bhattacharya, Shoumo, Devriendt, Koen, FitzPatrick, David F., Wilson, David I., Mital, Seema and Hurles, Matthew E. UK10K Consortium (2014) Rare variants in NR2F2 cause congenital heart defects in humans. The American Journal of Human Genetics, 94, (4), 574-585. (doi:10.1016/j.ajhg.2014.03.007). (PMID:24702954).

Al-Daghri, N., Attas, O., Johnston, H., Singhania, A., Alokail, M., Alkharfy, K., Abd-Alrahman, S., Sabico, S., Roumeliotis, T., Manousopoulou-Garbis, A., Townsend, Paul A., Woelk, C.H., Chrousos, G. and Garbis, S. (2014) Whole serum 3D LC-nESI-FTMS quantitative proteomics reveals sexual dimorphism in the Milieu Interieur of overweight and obese adults. Journal of Proteome Research, 13, (11), 5094-5105. (doi:10.1021/pr5003406).

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.

Alakbarzade, Vafa, Hameed, Abdul, Quek, Debra Q.Y., Chioza, Barry A, Baple, Emma L., Cazenave-Gassiot, Amaury, Nguyen, Long N., Wenk, Markus R., Ahmad, Arshia Q., Sreekantan-Nair, Ajith, Weedon, Michael N., Rich, Phil, Patton, Michael A., Warner, Thomas T., Silver, David L. and Crosby, Andrew H. (2015) A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. Nature Genetics, 47, (7), 814-817. (doi:10.1038/ng.3313). (PMID:26005865).

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.

Alexander, Melannie, Karmaus, Wilfried, Holloway, John W., Zhang, Hongmei, Roberts, Graham, Kurukulaaratchy, Ramesh J., Arshad, Syed Hasan and Ewart, Susan (2013) Effect of GSTM2-5 polymorphisms in relation to tobacco smoke exposures on lung function growth: a birth cohort study. BMC Pulmonary Medicine, 13, (1), 56. (doi:10.1186/1471-2466-13-56).

Alexander, Philip, Gibson, Jane, Cree, Angela J, Ennis, Sarah and Lotery, Andrew J (2014) Complement factor I and age-related macular degeneration. Molecular Vision, 20, 1253-1257. (PMID:5352734).

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, 10, (3), 520-532. (doi:10.1111/j.1474-9726.2011.00687.x). (PMID:21332924).

Alfred, Tamuno, Ben-Shlomo, Yoav, Cooper, Rachel, Hardy, Reecca, Cooper, Cyrus, Deary, Ian J., Gunnell, David, Harris, Sarah E., Kumari, Meena, Martin, Richard M., Moran, Colin N., Pitsiladis, Yannis P,, Ring, Susan M., Sayer, Avan Aihie, Smith, George Davey, Starr, John M., Kuh, Diana, Day, Ian N.M. and HALCyon Study Team (2011) ACTN3 genotype, althletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studies. Human Mutation, 32, (9), 1008-1018. (doi:10.1002/humu.21526). (PMID:21542061).

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).

Allen, Michelle A., Lauro, Federico M., Williams, Timothy J., Burg, Dominic, Siddiqui, Khawar S., De Francisci, Davide, Chong, Kevin W. Y., Pilak, Oliver, Chew, Hwee H., De Maere, Matthew Z., Ting, Lily, Katrib, Marilyn, Ng, Charmaine, Sowers, Kevin R., Galperin, Michael Y., Anderson, Iain J., Ivanova, Natalia, Dalin, Eileen, Martinez, Michele, Lapidus, Alla, Hauser, Loren, Land, Miriam, Thomas, Torsten and Cavicchioli, Ricardo (2009) The genome sequence of the psychrophilic archaeon, Methanococcoides burtonii: the role of genome evolution in cold adaptation. The ISME Journal, 3, (9), 1012-1035. (doi:10.1038/ismej.2009.45). (PMID:19404327).

Alter, Galit, Heckerman, David, Schneidewind, Arne, Fadda, Lena, Kadie, Carl M., Carlson, Jonathan M., Oniangue-Ndza, Cesar, Martin, Maureen, Li, Bin, Khakoo, Salim I., Carrington, Mary, Allen, Todd M. and Altfeld, Marcus (2011) HIV-1 adaptation to NK-cell-mediated immune pressure. Nature, 476, (7358), 96-100. (doi:10.1038/nature10237). (PMID:21814282).

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, Beverley H, Kasher, Paul R, Mayer, Josephine, Szynkiewicz, Marcin, Jenkinson, Emma M, Bhaskar, Sanjeev S, Urquhart, Jill E, Daly, Sarah B, Dickerson, Jonathan E, O'Sullivan, James, Leibundgut, Elisabeth Oppliger, Muter, Joanne, Abdel-Salem, Ghada M H, Babul-Hirji, Riyana, Baxter, Peter, Berger, Andrea, Bonafé, Luisa, Brunstom-Hernandez, Janice E, Buckard, Johannes A, Chitayat, David, Chong, Wui K, Cordelli, Duccio M, Ferreira, Patrick, Fluss, Joel, Forrest, Ewan H, Franzoni, Emilio, Garone, Caterina, Hammans, Simon R, Houge, Gunnar, Hughes, Imelda, Jacquemont, Sebastien, Jeannet, Pierre-Yves, Jefferson, Rosalind J, Kumar, Ram, Kutschke, Georg, Lundberg, Staffan, Lourenço, Charles M, Mehta, Ramesh, Naidu, Sakkubai, Nischal, Ken K, Nunes, Luís, Õunap, Katrin, Philippart, Michel, Prabhakar, Prab, Risen, Sarah R, Schiffmann, Raphael, Soh, Calvin, Stephenson, John B P, Stewart, Helen, Stone, Jon, Tolmie, John L, van der Knaap, Marjo S, Vieira, Jose P, Vilain, Catheline N, Wakeling, Emma L, Wermenbol, Vanessa, Whitney, Andrea, Lovell, Simon C, Meyer, Stefan, Livingston, John H, Baerlocher, Gabriela M, Black, Graeme C M, Rice, Gillian I and Crow, Yanick J (2012) Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nature Genetics, 44, (3), 338-342. (doi:10.1038/ng.1084).

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, 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).

Andreoletti, Gaia, Ashton, James J., Coelho, Tracy, Willis, C., Haggarty, R., Gibson, Jane, Holloway, John W., Batra, A., Afzal, Nadeem A., Beattie, R. Mark and Ennis, Sarah (2015) Exome analysis of patients with concurrent pediatric inflammatory bowel disease (PIBD) and autoimmune disease. Inflammatory Bowel Diseases, 21, (6), 1229-1236. (doi:10.1097/MIB.0000000000000381).

Andrews, Allison-Lynn, Nordgren, Ida Karin, Campbell-Harding, Gemma, Holloway, John W., Holgate, Stephen T., Davies, Donna E. and Tavassoli, Ali (2013) The association of the cytoplasmic domains of interleukin 4 receptor alpha and interleukin 13 receptor alpha 2 regulates interleukin 4 signaling. Molecular BioSystems, 9, (12), 3009-3014. (doi:10.1039/C3MB70298G). (PMID:24056919).

Ansari, M., Poke, G., Ferry, Q., Williamson, K., Aldridge, R., Meynert, A. M., Bengani, H., Chan, C. Y., Kayserili, H., Avci, ahin, Hennekam, R. C. M., Lampe, A. K., Redeker, E., Homfray, T., Ross, A., Falkenberg Smeland, M., Mansour, S., Parker, M. J., Cook, J. A., Splitt, M., Fisher, R. B., Fryer, A., Magee, A. C., Wilkie, A., Barnicoat, A., Brady, A. F., Cooper, N. S., Mercer, C., Deshpande, C., Bennett, C. P., Pilz, D. T., Ruddy, D., Cilliers, D., Johnson, D. S., Josifova, D., Rosser, E., Thompson, E. M., Wakeling, E., Kinning, E., Stewart, F., Flinter, F., Girisha, K. M., Cox, H., Firth, H. V., Kingston, H., Wee, J. S., Hurst, J. A., Clayton-Smith, J., Tolmie, J., Vogt, J., Tatton-Brown, K., Chandler, K., Prescott, K., Wilson, L., Behnam, M., McEntagart, M., Davidson, R., Lynch, S.-A., Sisodiya, S., Mehta, S. G., McKee, S. A., Mohammed, S., Holden, S., Park, S.-M., Holder, S. E., Harrison, V., McConnell, V., Lam, W. K., Green, A. J., Donnai, D., Bitner-Glindzicz, M., Donnelly, D. E., Nellaker, C., Taylor, M. S. and FitzPatrick, D. R. (2014) Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. Journal of Medical Genetics, 51, (10), 659-668. (doi:10.1136/jmedgenet-2014-102573).

Ansari, Morad, Rainger, Jacqueline K., Murray, Jennie E., Hanson, Isabel, Firth, Helen V., Mehendale, Felicity, Amiel, Jeanne, Gordon, Christopher T., Percesepe, Antonio, Mazzanti, Laura, Fryer, Alan, Ferrari, Paola, Devriendt, Koenraad, Temple, I. Karen and FitzPatrick, David R. (2014) A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX. European Journal of Medical Genetics, 57, (10), 587-595. (doi:10.1016/j.ejmg.2014.08.007). (PMID:25195018).

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).

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Bancroft, Elizabeth K., Castro, Elena, Bancroft, Gordon A., Ardern-Jones, Audrey, Moynihan, Clare, Page, Elizabeth, Taylor, Natalie, Eeles, Rosalind A., Rowley, Emma and Cox, Karen (2015) The psychological impact of undergoing genetic-risk profiling in men with a family history of prostate cancer. Psycho-Oncology (doi:10.1002/pon.3814). (PMID:25872100).

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, Howard, Emma, Bunstone, Sancha, Chandler, Kate E., Kerr, Bronwyn, Lachlan, Katherine, McKee, Shane, Mehta, Sarju G., Tavares, Ana Lisa Taylor, Tolmie, John and Donnai, Dian (2013) MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome. Clinical Genetics, 83, (5), 467-471. (doi:10.1111/j.1399-0004.2012.01955.x).

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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. K., Rodrigues, R., Maloney, V. K., Taborda, F., Rodrigues, M. do C. and Bateman, M. S. (2013) Another family with a euchromatic duplication variant of 9q13-q21.1 Derived from segmentally duplicated pericentromeric euchromatin. Cytogenetic and Genome Research, 141, (4), 64-69. (doi:10.1159/000350870). (PMID:23651944).

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., Brasch-Andersen, C., Maloney, V.K., Huang, S., Bateman, M.S., Graakjaer, J., Heinl, U.D. and Fagerberg, C. (2013) A novel pseudo-dicentric variant of 16p11.2-q11.2 contains Euchromatin from 16p11.2-p11.1 and resembles pathogenic duplications of proximal 16q. Cytogenetic and Genome Research, 139, (1), 59-64. (doi:10.1159/000342542).

Barber, J.C.K., Hall, V., Maloney, V.K., Bewes, B., MacDermot, K., Holder, S., Liehr, T., Volleth, M., Huang, S. and White, H.E. (2012) 16p11.2-p21.2 duplication syndrome differentiated from euchromatic variation of 16p11.2 in three new families. European Journal of Human Genetics (Submitted).

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., Hall, Victoria, Maloney, Viv K., Huang, Shuwen, Roberts, Angharad M., Brady, Angela F., Foulds, Nicki, Bewes, Beverley, Volleth, Marianne, Liehr, Thomas, Mehnert, Karl, Bateman, Mark and White, Helen (2013) 16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2. European Journal of Human Genetics, 21, (2), 182-189. (doi:10.1038/ejhg.2012.144). (PMID:22828807).

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, John C.K., Rosenfeld, Jill A., Foulds, Nicola, Laird, Sophie, Bateman, Mark S., Thomas, N. Simon, Baker, Samantha, Maloney, Viv K., Anilkumar, Arayamparambil, Smith, Wendy E., Banks, Valerie, Ellingwood, Sara, Kharbutli, Yara, Mehta, Lakshmi, Eddleman, Keith A., Marble, Michael, Zambrano, Regina, Crolla, John A. and Lamb, Allen N. (2013) 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients. American Journal of Medical Genetics Part A, 161, (3), 487-500. (doi:10.1002/ajmg.a.35767).

Barber, John C.K., Rosenfeld, Jill A., Graham, John M., Kramer, Nancy, Lachlan, Katherine L., Bateman, Mark S., Collinson, Morag N., Stadheim, Barbro Fossøy, Turner, Claire L.S., Gauthier, Jacqueline N., Reimschisel, Tyler E., Qureshi, Athar M., Dabir, Tabib A., Humphreys, Mervyn W., Marble, Michael, Huang, Taosheng, Beal, Sarah J., Massiah, Joanne, Taylor, Emma-Jane and Wynn, Sarah L. (2015) Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance. American Journal of Medical Genetics Part A, 167, (9), 2052-2064. (doi:10.1002/ajmg.a.37120).

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).

Barisic, Ingeborg, Boban, Ljubica, Greenlees, Ruth, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Addor, Marie-Claude, Arriola, Larraitz, Bergman, Jorieke, Braz, Paula, Budd, Judith, Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Klungsoyr, Kari, McDonnell, Bob, Nelen, Vera, Pierini, Anna, Queisser-Wahrendorf, Annette, Rankin, Judith, Rissmann, Anke, Rounding, Catherine, Tucker, David, Verellen-Dumoulin, Christine and Dolk, Helen (2014) Holt Oram syndrome: a registry-based study in Europe. Orphanet Journal of Rare Diseases, 9, (1), 156. (doi:10.1186/s13023-014-0156-y). (PMID:25344219).

Barisic, Ingeborg, Boban, Ljubica, Loane, Maria, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Dolk, Helen, Addor, Marie-Claude, Bergman, Jorieke EH, Braz, Paula, Draper, Elizabeth S, Haeusler, Martin, Khoshnood, Babak, Klungsoyr, Kari, Pierini, Anna, Queisser-Luft, Annette, Rankin, Judith, Rissmann, Anke and Verellen-Dumoulin, Christine (2014) Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe. European Journal of Human Genetics, 9, 156. (doi:10.1038/ejhg.2014.174).

Barisic, Ingeborg, Odak, Ljubica, Loane, Maria, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Dolk, Helen, Addor, Marie-Claude, Arriola, Larraitz, Bergman, Jorieke, Bianca, Sebastiano, Boyd, Patricia A., Draper, Elizabeth S., Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Latos-Bielenska, Anna, McDonnell, Bob, Pierini, Anna, Rankin, Judith, Rissmann, Anke, Queisser-Luft, Annette, Verellen-Dumoulin, Christine, Stone, David and Tenconi, Romano (2013) Fraser syndrome: epidemiological study in a European population. American Journal of Medical Genetics Part A, 161, (5), 1012-1018. (doi:10.1002/ajmg.a.35839). (PMID:23532946).

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Barney, Anna, Martelli, Sandra, Serrurier, A. and Steele, James (2012) Articulatory capacity of Neanderthals, a very recent and human-like fossil hominin. Philosophical Transactions of The Royal Society B: Biological Sciences, 367, (1585), 88-102. (doi:10.1098/rstb.2011.0259).

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).

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