Browse by Divisions pre August 2011

Abbott, R.A., Hammans, S., Margarson, M. and Aji, B.M. (2005) Diaphragmatic paralysis and respiratory failure as a complication of Lyme disease. Journal of Neurology, Neurosurgery, and Psychiatry, 76, (9), 1306-1307. (doi:10.1136/jnnp.2004.046284).

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).

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).

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).

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, 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).

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).

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).

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).

Bremond-Gignac, D., Crolla, J. A., Copin, H., Guichet, A., Bonneau, D., Taine, L., Lacombe, D., Baumann, C., Benzacken, B. and Verloes, A. (2005) Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion. European Journal of Human Genetics, 13, (4), 409 - 413. (doi:10.1038/sj.ejhg.5201358).

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.

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).

Caine, Allan, Maltby, A. Edna, Parkin, C. Anthony, Waters, Jonathan J. and Crolla, John A. (2005) Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment. The Lancet, 366, (9480), 123-128. (doi:10.1016/S0140-6736(05)66790-6).

Chiecchio, Laura, Protheroe, Rebecca K.M., Parker, Tim, Rudduck, Christina, Cheung, Kan Luk, Dagrada, Gianpaolo, Wechalekar, Ashutosh, Nightingale, Mathew, Harrison, Christine J., Cross, Nicholas C.P. and Ross, Fiona M. (2005) Critical importance of conventional cytogenetics in detecting prognostically significant chromosome 13 deletions in myeloma. Blood, 106, (11), p.443A.

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).

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., 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).

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).

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).

Dingli, D. F. H., Mahaffey, V., Spurbeck, J., Ross, F. M., Watmore, A. E., Reilly, J. T., Cross, N. C., Dewald, G. W. and Tefferi, A. (2005) Der(6)t(1;6)(q21-23;p21.3): a specific cytogenetic abnormality in myelofibrosis with myeloid metaplasia. British journal of haematology, 130, (2), 229 - 232. (doi:10.1111/j.1365-2141.2005.05593.x).

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).

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

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).

Gnad-Vogt, Senta Ulrike, Hofheinz, Ralph Dieter, Saussele, Saussele, Kreil, Sussane, Willer, Andreas, Willeke, Frank, Pilz, Lothar, Hehlmann, Rudiger and Hochhaus, Andreas (2005) Pegylated liposomal doxorubicin and mitomycin C in combination with infusional 5-fluorouracil and sodium folinic acid in the treatment of advanced gastric cancer: results of a phase II trial. Anti-Cancer Drugs, 16, (4), 435-440.

Goverdhan, S.V., Gibbs, F.A. and Lotery, A.J. (2005) Radiotherapy for age-related macular degeneration: no more pilot studies please. Eye, 19, (11), 1137-1141. (doi:10.1038/sj.eye.6701744).

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. (doi:10.1111/j.1744-313X.2005.00548.x).

Grand, Francis H., Koduru, Prasad, Cross, Nicholas C.P. and Allen, Steven L. (2005) NUP98-LEDGF fusion and t(9;11) in transformed chronic myeloid leukemia. Leukemia Research, 29, (12), 1469-1472. (doi:10.1016/j.leukres.2005.05.002).

Gribble, S.M., Prigmore, E., Burford, D.C., Porter, K.M., Ng, Bee Ling, Douglas, E.J., Fiegler, H., Carr, P., Kalaitzopoulos, D., Clegg, S., Sandstrom, R., Temple, I.K., Youings, S.A., Thomas, N.S., Dennis, N.R., Jacobs, P.A., Crolla, J.A. and Carter, N.P. (2005) The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. Journal of Medical Genetics, 42, (1), 8-16. (doi:10.1136/jmg.2004.024141).

Gunther, Ute, Holloway, Judith A., Gordon, John G., Knight, Andrea, Chance, Victoria, Hanley, Neil A., Wilson, David I., French, Ruth, Spencer, Jo, Steer, Howard, Anderson, Graham and MacDonald, Thomas T. (2005) Phenotypic characterization of CD3-7+ cells in developing human intestine and an analysis of their ability to differentiate into T cells. Journal of Immunology, 174, (9), 5414-5422.

Habens, F., Srinivasan, N., Oakley, F., Mann, D.A., Ganesan, A. and Packham, G. (2005) Novel sulfasalazine analogues with enhanced NF-kB inhibitory and apoptosis promoting activity. Apoptosis, 10, (3), 481-491. (doi:10.1007/s10495-005-1877-0).

Haitchi, Hans Michael, Powell, Robert M., Shaw, Timothy J., Howarth, Peter H., Wilson, Susan J., Wilson, David I., Holgate, Stephen T. and Davies, Donna E. (2005) ADAM33 expression in asthmatic airways and human embryonic lungs. American Journal of Respiratory and Critical Care Medicine, 171, (9), 958-965. (doi:10.1164/rccm.200409-1251OC).

Hearn, Tom, Spalluto, Cosma, Phillips, Victoria, Renforth, Glenn L., Copin, Nane, Hanley, Neil A. and Wilson, David I. (2005) Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. Diabetes, 54, (5), 1581-1587. (doi:10.2337/diabetes.54.5.1581).

Hofheinz, Ralf-Dieter, Gnad-Vogt, Ulrike, Wein, Axel, Saussele, Susanne, Kreil, Sebastian, Pilz, Lothar, Hehlmann, Rudiger and Hochhaus, Andreas (2005) Irinotecan and capecitabine as second-line treatment after failure for first-line infusional 24-h 5-fluorouracil/folinic acid in advanced colorectal cancer: a phase II study. Anticancer Drugs, 16, (1), 39-45.

Holgate, S.T. and Holloway, J.W. (2005) Is big beautiful? The continuing story of ADAM33 and asthma. Thorax, 60, (4), 263-264.

Holgate, Stephen T., Davies, Donna E., Powell, Rob M. and Holloway, John W. (2005) ADAM33: a newly identified gene in the pathogenesis of asthma. Immunology and Allergy Clinics of North America, 25, (4), 655-668. (doi:10.1016/j.iac.2005.07.003).

Holloway, John W. and Yang, Ian A. (2005) β2-Adrenergic receptor polymorphism and asthma: true or false? Journal of Allergy and Clinical Immunology, 115, (5), 960-962. (doi:10.1016/j.jaci.2005.02.005).

Holloway, John W., Yang, Ian A. and Ye, Shu (2005) Variation in the toll-like receptor 4 gene and susceptibility to myocardial infarction. Pharmacogenetics and Genomics, 15, (1), 15-21.

Holmes, C., Ballard, C., Lehmann, D., David Smith, A., Beaumont, H., Day, I.N., Nadeem Khan, M., Lovestone, S., McCulley, M., Morris, C.M., Munoz, D.G., O'Brien, K., Russ, C., Del Ser, T. and Warden, D. (2005) Rate of progression of cognitive decline in Alzheimer's disease: effect of butyrylcholinesterase K gene variation. Journal of Neurology Neurosurgery and Psychiatry, 76, (5), 640-643. (doi:10.1136/jnnp.2004.039321).

Houghton, Franchesca D. (2005) Role of gap junctions during early embryo development. Reproduction, 129, (2), 129-135. (doi:10.1530/rep.1.00277).

Howell, W.M., Ali, S., Rose-Zerilli, M.J. and Ye, S. (2005) VEGF polymorphisms and severity of atherosclerosis. Journal of Medical Genetics, 42, (6), 485-490. (doi:10.1136/jmg.2004.025734).

Howell, W.M., Pead, P.J., Shek, F.W., Rose-Zerilli, M.J., Armstrong, T., Johnson, C.D., Fine, D.R., Iredale, J.P. and Bateman, A.C. (2005) Influence of cytokine and ICAM-1 gene polymorphisms on susceptibility to chronic pancreatitis. Journal of Clinical Pathology, 58, (6), 595-599. (doi:10.1136/jcp.2004.020842).

Howell, W.M., Rose-Zerilli, M.J., Theaker, J.M. and Bateman, A.C. (2005) ICAM-1 polymorphisms and development of cutaneous malignant melanoma. International Journal of Immunogenetics, 32, (6), 367-373. (doi:10.1111/j.1744-313X.2005.00539.x).

Huang, Shuwen, Cook, Derek G., Hinks, Lesley J., Chen, Xiao-he, Ye, Shu, Gilg, Julie A., Jarvis, Martin J., Whincup, Peter H. and Day, Ian N.M. (2005) CYP2A6, MAOA, DBH, DRD4, and 5HT2A genotypes, smoking behaviour and cotinine levels in 1518 UK adolescents. Pharmacogenetics and Genomics, 15, (12), 839-850.

Jerjes, W.K., Cleare, A.J., Wessely, S., Wood, P.J. and Taylor, N.F. (2005) Diurnal patterns of salivary cortisol and cortisone output in chronic fatigue syndrome. Journal of affective disorders, 87, (2-3), 299-304. (doi:10.1016/j.jad.2005.03.013).

Jia, Wei-Hua, Collins, Andrew, Zeng, Yi-Xin, Feng, Bing-Jian, Yu, Xing Juan, Huang, Li-Xi, Feng, Qi-Sheng, Huang, Ping, Yao, Ming Hong and Shugart, Yin Yao (2005) Complex segregation analysis of nasopharyngeal carcinoma in Guangdong, China: evidence for a multifactorial mode of inheritance (complex segregation analysis of NPC in China). European Journal of Human Genetics, 13, (2), 248-252. (doi:10.1038/sj.ejhg.5201305).

Jones, Amy V., Kreil, Sebastian, Zoi, Katerina, Waghorn, Katherine, Curtis, Claire, Zhang, Lingyan, Score, Joannah, Seear, Rachel, Chase, Andrew J., Grand, Francis H., White, Helen, Zoi, Christine, Loukopoulos, Dimitris, Terpos, Evangelos, Vervessou, Elisavet-Christine, Schultheis, Beate, Emig, Michael, Ernst, Thomas, Lengfelder, Eva, Hehlmann, Rüdiger, Hochhaus, Andreas, Oscier, David, Silver, Richard T., Reiter, Andreas and Cross, Nicholas C.P. (2005) Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood, 106, (6), 2162-2168. (doi:10.1182/blood-2005-03-1320).

Jovanovic, J., Reiter, A., Cilloni, D., Gottardi, E., Score, J., Popp, H., Metzgeroth, G., Walz, C., Hochhaus, A., Roche, C., Preudhomme, C., Rondoni, M., Ottaviani, E., Rancati, F., Solomon, E., Apperley, J., Martinelli, G., Saglio, G., Hehlmann, R., Cross, N.C.P. and Grimwade, D. (2005) Oral sessions. Sensitive detection of FIP1L1-PDGFRA fusion transcripts by real-time quantitative RT-PCR (RQ-PCR) reveals achievement of molecular remission in chronic eosinophilic leukemia treated with low-dose imatinib therapy. Blood, 106, (11), p.145A.

Kalidas, Kamini, Shaw, Adam C., Crosby, Andrew H., Newbury-Ecob, Ruth, Greenhalgh, Lynn, Temple, Isabel K., Law, Caroline, Patel, Amisha, Patton, Michael A. and Jeffery, Steve (2005) Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. Journal of Human Genetics, 50, (1), 21-25. (doi:10.1007/s10038-004-0212-x).

Kim, S.-H., Bae, J.-S., Suh, C.-H., Nahm, D.-H., Holloway, J.W. and Park, H.-S. (2005) Polymorphism of tandem repeat in promoter of 5-lipoxygenase in ASA-intolerant asthma: a positive association with airway hyperresponsiveness. Allergy, 60, (6), 760-765. (doi:10.1111/j.1398-9995.2005.00780.x).

Kim, S.H., Choi, J.H., Holloway, J.W., Suh, C.H., Nahm, D.H., Ha, E.H., Park, C.S. and Park, H.S. (2005) Leukotriene-related gene polymorphisms in patients with aspirin-intolerant urticaria and aspirin-intolerant asthma: differing contributions of ALOX5 polymorphism in Korean population. Journal of Korean Medical Science, 20, (6), 926-931.

Kim, S.H., Choi, J.H., Park, H.S., Holloway, J.W., Lee, S.K., Park, C.S. and Shin, H.D. (2005) Association of thromboxane A2 receptor gene polymorphism with the phenotype of acetyl salicylic acid-intolerant asthma. Clinical and Experimental Allergy, 35, (5), 585-590. (doi:10.1111/j.1365-2222.2005.02220.x).

Královičová, Jana, Christensen, Mikkel B. and Vořechovský, Igor (2005) Biased exon/intron distribution of cryptic and de novo 3' splice sites. Nucleic Acids Research, 33, (15), 4882-4898. (doi:10.1093/nar/gki811).

Královičová, Jana and Vořechovský, Igor (2005) Intergenic transcripts in genes with phase I introns. Genomics, 85, (4), 431-440. (doi:10.1016/j.ygeno.2004.12.001).

Lahaye, Tanja, Riehm, Birte, Berger, Ute, Paschka, Peter, Müller, Martin C., Kreil, Sebastian, Merx, Kirsten, Schwindel, Uwe, Schoch, Claudia, Hehlmann, Rüdiger and Hochhaus, Andreas (2005) Response and resistance in 300 patients with BCR-ABL-positive leukemias treated with imatinib in a single center: a 4.5-year follow-up. Cancer, 103, (8), 1659-1669. (doi:10.1002/cncr.20922).

Laxton, R., Pearce, E., Kyriakou, T. and Ye, S. (2005) Association of the lymphotoxin-alpha gene Thr26Asn polymorphism with severity of coronary atherosclerosis. Genes and immunity, 6, (6), 539-541. (doi:10.1038/sj.gene.6364236).

Lei, Haixin, Day, Ian N.M. and Vořechovský, Igor (2005) Exonization of AluYa5 in the human ACE gene requires mutations in both 3' and 5' splice sites and is facilitated by a conserved splicing enhancer. Nucleic Acids Research, 33, (12), 3897-3906. (doi:10.1093/nar/gki707).

Lei, Haixin and Vořechovský, Igor (2005) Identification of splicing silencers and enhancers in sense Alus: a role for pseudoacceptors in splice site repression. Molecular and Cellular Biology, 25, (16), 6912-6920. (doi:10.1128/MCB.25.16.6912-6920.2005).

Li, Rong, Johnson, Anne B., Salomons, Gajja, Goldman, James E., Naidu, Sakkubai, Quinlan, Roy, Cree, Bruce, Ruyle, Stephanie Z., Banwell, Brenda, D'Hooghe, Marc, Siebert, Joseph R., Rolf, Cristin M., Cox, Helen, Reddy, Alyssa, Gutierrez-Solana, Luis Gonzalez, Collins, Amanda, Weller, Roy O., Messing, Albee, van der Knaap, Marjo S. and Brenner, Michael (2005) Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Annals of Neurology, 57, (3), 310-326. (doi:10.1002/ana.20406).

Lotery, A.J. (2005) Glutamate excitotoxicity in glaucoma: truth or fiction? Eye, 19, (4), 369-370. (doi:10.1038/sj.eye.6701623).

Mackay, Deborah J.G., Temple, I. Karen, Shield, Julian P.H. and Robinson, David O. (2005) Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology. Human Genetics, 116, (4), 255-261. (doi:10.1007/s00439-004-1236-1).

Maniatis, N., Morton, N.E., Gibson, J., Xu, C.-F., Hosking, L.K. and Collins, A. (2005) The optimal measure of linkage disequilibrium reduces error in association mapping of affection status. Human Molecular Genetics, 14, (1), 145-153. (doi:10.1093/hmg/ddi019).

Martineau, Mary, Jalali, G. Reza, Barber, Kerry E., Broadfield, Zoë J., Cheung, Kan Luk, Lilleyman, John, Moorman, Anthony V., Richards, Sue, Robinson, Hazel M., Ross, Fiona and Harrison, Christine J. (2005) ETV6/RUNX1 fusion at diagnosis and relapse: some prognostic indications. Genes, Chromosomes and Cancer, 43, (1), 54-71. (doi:10.1002/gcc.20158).

Mc Lornan, D.P., Percy, M.J., Jones, A.V., Cross, N.C. and Mc Mullin, M.F. (2005) Chronic neutrophilic leukemia with an associated V617F JAK2 tyrosine kinase mutation. Haematologica, 90, (12), 1696-1697.

Meyer-Monard, S., Mühlematter, D., Streit, A., Chase, A.J., Gratwohl, A., Cross, N.C.P., Jotterand, M. and Tichelli, A. (2005) Broad molecular screening of an unclassifiable myeloproliferative disorder reveals an unexpected ETV6/ABL1 fusion transcript. Leukemia, 19, (6), 1096-1099. (doi:10.1038/sj.leu.2403697).

Milner, Katja M., Craig, Ellen E., Thompson, Russell J., Veltman, Marijcke W.M., Thomas, N. Simon, Roberts, Sian, Bellamy, Margaret, Curran, Sarah R., Sporikou, Caroline M.J. and Bolton, Patrick F. (2005) Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype. Journal of Child Psychology and Psychiatry, 46, (10), 1089-1096. (doi:10.1111/j.1469-7610.2005.01520.x).

Mirmalek-Sani, Sayed-Hadi, Tare, Rahul S., Morgan, Suzanne M., Roach, Helmtrud I., Wilson, David I., Hanley, Neil A. and Oreffo, Richard O.C. (2005) Characterization and multipotentiality of human fetal femur-derived cells: implications for skeletal tissue regeneration. Stem Cells, 24, (4), 1042-1053. (doi:10.1634/stemcells.2005-0368).

Mistry, Anita R., Felix, Carolyn A., Whitmarsh, Ryan J., Mason, Annabel, Reiter, Andreas, Cassinat, Bruno, Parry, Anne, Walz, Christoph, Wiemels, Joseph L., Segal, Mark R., Adès, Lionel, Blair, Ian A., Osheroff, Neil, Peniket, Andrew J., Lafage-Pochitaloff, Marina, Cross, Nicholas C.P., Chomienne, Christine, Solomon, Ellen, Fenaux, Pierre and Grimwade, David (2005) DNA topoisomerase II in therapy-related acute promyelocytic leukemia. New England Journal of Medicine, 352, (15), 1529-1538.

Morton, Newton E. (2005) Linkage disequilibrium maps and association mapping. Journal of Clinical Investigation, 115, (6), 1425-1430. (doi:10.1172/JCI25032).

Ocaka, L., Spalluto, C., Wilson, D.I., Hunt, D.M. and Halford, S. (2005) Chromosomal localization, genomic organization and evolution of the genes encoding human phosphatidylinositol transfer protein membrane-associated (PITPNM) 1, 2 and 3. Cytogenetic and Genome Research, 108, (4), 293-302. (doi:10.1159/000081519).

Odero, M.D., Grand, F.H., Iqbal, S., Ross, F., Roman, J.P., Vizmanos, J.L., Andrieux, J., Laï, J.L., Calasanz, M.J. and Cross, N.C.P. (2005) Disruption and aberrant expression of HMGA2 as a consequence of diverse chromosomal translocations in myeloid malignancies. Leukemia, 19, (2), 245-252. (doi:10.1038/sj.leu.2403605).

Patel, M.B.R., Arden, N.K., Masterson, L.M., Phillips, D.I.W., Swaminathan, R., Syddall, H.E., Byrne, C.D., Wood, P.J., Cooper, C. and Holt, R.I.G. (2005) Investigating the role of the growth hormone-insulin-like growth factor (GH-IGF) axis as a determinant of male bone mineral density (BMD). Bone, 37, (6), 833-841. (doi:10.1016/j.bone.2005.06.016).

Pearce, Eve, Tregouet, David-Alexandre, Samnegård, Ann, Morgan, Angharad R., Cox, Charles, Hamsten, Anders, Eriksson, Per and Ye, Shu (2005) Haplotype effect of the matrix metalloproteinase-1 gene on risk of myocardial infarction. Circulation Research, 97, (10), 1070-1076. (doi:10.1161/01.RES.0000189302.03303.11).

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