Browse by Divisions pre August 2011

Aldred, M.A., Sanford, R.O., Thomas, N.S., Barrow, M.A., Wilson, L.C., Brueton, L.A., Bonaglia, M.C., Hennekam, R.C., Eng, C., Dennis, N.R. and Trembath, R.C. (2004) Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. Journal of Medical Genetics, 41, (6), 433-439.

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.

Bedlack, Richard S., Vu, Tuan, Hammans, Simon, Sparr, Steven A., Myers, Bennett, Morgenlander, Joel and Hirano, Michio (2004) MNGIE neuropathy: five cases mimicking chronic inflammatory demyelinating polyneuropathy. Muscle & Nerve, 29, (3), 364-368. (doi:10.1002/mus.10546).

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).

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.

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).

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).

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).

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).

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).

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).

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).

Collinson, M. N., Roberts, S. E., Crolla, J. A. and Dennis, N. R. (2004) A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader-Willi syndrome, Angelman syndrome and duplication of 15q11.2-q13 in a single family: Importance of differentiation from a paracentric inversion. American Journal of Medical Genetics, 126A, (1), 27 - 32. (doi: 10.1002/ajmg.a.26565).

Cox, H., Bullman, H. and Temple, I. K. (2004) Maternal UPD(14) in the patient with a normal karyotype: clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome. American Journal of Medical Genetics, 127A, (1), 21 - 25. (doi:10.1002/ajmg.a.20611).

Cross, N. C. P., Chase, Andrew J., Drachenberg, Milton, Roberts, W. Mark, Finklestein, Jerry Z. and Grand, Francis H. (2004) Fusion of SFPQ to ABL in a patient with a T(1;9)(p34;q34) and acute lymphocytic leukemia. Blood, 104, (11), p.194B.

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).

Eley, Lorraine, Turnpenny, Lee, Yates, Laura M., Craighead, A. Scott, Morgan, David, Whistler, Catherine, Goodship, Judith A. and Strachan, Tom (2004) A perspective on inversin. Cell Biology International, 28, (2), 119-124. (doi:10.1016/j.cellbi.2003.11.009).

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).

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.

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., 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).

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).

Grand, E. K., Chase, A. J., Heath, C., Rahemtulla, A. and Cross, N. C. (2004) Targeting FGFR3 in multiple myeloma: inhibition of t(4;14)-positive cells by SU5402 and PD173074. Leukemia, 18, (5), 962 - 966. (doi:10.1038/sj.leu.2403347).

Grand, Effie K., Grand, Francis H., Chase, Andrew J., Ross, Fiona M., Corcoran, Martin M., Oscier, David G. and Cross, Nicholas C.P. (2004) Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome. Genes, Chromosomes and Cancer, 40, (1), 78-83. (doi:10.1002/gcc.20023).

Grand, Francis H., Burgstaller, Sonja, Kuhr, Thomas, Baxter, E. Joanna, Webersinke, Gerald, Thaler, Josef, Chase, Andrew J. and Cross, Nicholas C.P. (2004) p53-binding protein 1 is fused to the platelet-derived growth factor receptor β in a patient with a t(5;15)(q33;q22) and an imatinib-responsive eosinophilic myeloproliferative disorder. Cancer Research, 64, (20), 7216-7219. (doi:10.1158/0008-5472.CAN-04-2005).

Gruszka-Westwood, Alicja M., Horsley, Sharon W., Martinez-Ramirez, Angel, Harrison, Christine J., Kempski, Helena, Moorman, Anthony V., Ross, Fiona M., Griffiths, Michael, Greaves, Mel F. and Kearney, Lyndal (2004) Comparative expressed sequence hybridization studies of high-hyperdiploid childhood acute lymphoblastic leukemia. Genes, Chromosomes and Cancer, 41, (3), 191-202. (doi:10.1002/gcc.20085).

Hammond, Peter, Hutton, Tim J., Allanson, Judith E., Campbell, Linda E., Hennekam, Raoul C.M., Holden, Sean, Patton, Michael A., Shaw, Adam, Temple, I. Karen, Trotter, Matthew, Murphy, Kieran C. and Winter, Robin M. (2004) 3D analysis of facial morphology. American Journal of Medical Genetics Part A, 126A, (4), 339-348. (doi:10.1002/ajmg.a.20665).

Hearle, Nicholas, Lucassen, Anneke, Wang, Rubin, Lim, Wendy, Ross, Fiona, Wheeler, Robert, Moore, Isabella, Shipley, Janet and Houlston, Richard (2004) Mapping of a translocation breakpoint in a Peutz-Jeghers hamartoma to the putative PJS locus at 19q13.4 and mutation analysis of candidate genes in polyp and STK11-negative PJS cases. Genes, Chromosomes and Cancer, 41, (2), 163-169. (doi:10.1002/gcc.20067).

Hofheinz, R. D., Hartmann, J. T., Willer, A., Oechsle, K., Hartung, G., Gnad, U., Saussele, S., Kreil, S., Bokemeyer, C., Hehlmann, R. and Hochhaus, A. (2004) Capecitabine in combination with mitomycin C in patients with gastrointestinal cancer: results of an extended multicentre phase-I trial. British Journal of Cancer, 91, (5), 834 - 838. (doi:10.1038/sj.bjc.6602025).

Holgate, Stephen T., Davies, Donna E., Rorke, Steuart, Cakebread, Julie, Murphy, Gillian, Powell, Robert M. and Holloway, John W. (2004) ADAM 33 and its association with airway remodeling and hyperresponsiveness in asthma. Clinical Reviews in Allergy & Immunology, 27, (1), 23-34.

Holloway, J.W. and Holgate, S.T. (2004) Genetics. Chemical Immunology and Allergy, 84, 1-35. (doi:10.1159/000081548).

Holt, R.I.G., Syddall, H.E., Phillips, D.I.W., Martyn, C.N., Gluckman, P.D., Breier, B.H., Wood, P.J. and Fall, C.H. (2004) Serum insulin-like growth factor-I concentrations in late middle age: no association with birthweight in three UK cohorts. Acta Physiologica Scandinavica, 180, (4), 359-366. (doi:10.1111/j.1365-201X.2004.01262.x).

Iwanaga, T., McEuen, A., Walls, A.F., Clough, J.B., Keith, T.P., Rorke, S., Barton, S.J., Holgate, S.T. and Holloway, J.W. (2004) Polymorphism of the mast cell chymase gene (CMA1) promoter region: lack of association with asthma but association with serum total immunoglobulin E levels in adult atopic dermatitis. Clinical and Experimental Allergy, 34, (7), 1037-1042. (doi:10.1111/j.1365-2222.2004.02000.x).

Jones, A.V. and Cross, N.C.P. (2004) Oncogenic protein tyrosine kinases: Oncogenic derivatives of platelet-derived growth factor receptors. Cellular and Molecular Life Sciences (CMLS), 61, (23), 2912-2923. (doi:10.1007/s00018-004-4272-z).

Ke, Xiayi, Hunt, Sarah, Tapper, William, Lawrence, Robert, Stavrides, George, Ghori, Jilur, Whittaker, Pamela, Collins, Andrew, Morris, Andrew P., Bentley, David, Cardon, Lon R. and Deloukas, Panos (2004) The impact of SNP density on fine-scale patterns of linkage disequilibrium. Human Molecular Genetics, 13, (6), 577-588. (doi:10.1093/hmg/ddh060).

Khan, Q. H., Pontefract, D. E., Iyengar, S. and Ye, S. (2004) Evidence of differing genotypic effects of PPARalpha in women and men. Journal of Medical Genetics, 41, (6)

Kralovicova, J., Houngninou-Molango, S., Kramer, A. and Vorechovsky, I. (2004) Branch site haplotypes that control alternative splicing. Human Molecular Genetics, 13, (24), 3189-3202. (doi:10.1093/hmg/ddh334).

Kyriakou, Theodosios, Hodgkinson, Conrad, Pontefract, David E., Iyengar, Srikanth, Howell, W.Martin, Wong, Yuk-ki, Eriksson, Per and Ye, Shu (2004) Genotypic effect of the -565C>T polymorphism in the ABCA1 gene promoter on ABCA1 expression and severity of atherosclerosis. Arteriosclerosis, Thrombosis, and Vascular Biology, 25, (2), 418-423. (doi:10.1161/01.ATV.0000149379.72018.20).

Lachlan, Katherine L., Collinson, Morag N., Sandford, Richard O.C., van Zyl, Berendine, Jacobs, Patricia A. and Thomas, N. Simon (2004) Functional disomy resulting from duplications of distal Xq in four unrelated patients. Human Genetics, 115, (5), 399-408. (doi:10.1007/s00439-004-1175-x).

Lachlan, Katherine L., Temple, I. Karen and Mumford, Andrew D. (2004) Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome. European Journal of Human Genetics, 12, (10), 790-796. (doi:10.1038/sj.ejhg.5201252).

Lawlor, Debbie A., Day, Ian N.M., Gaunt, Tom R., Hinks, Lesley J., Briggs, Patricia J., Kiessling, Matthew, Timpson, Nick, Smith, George Davey and Ebrahim, Shah (2004) The association of the PON1 Q192R polymorphism with coronary heart disease: findings from the British Women's Heart and Health cohort study and a meta-analysis. BMC Genetics, 5, (17), 1-12. (doi:10.1186/1471-2156-5-17).

Lee, J.H., Park, H.S., Park, S.W., Jang, A.S., Uh, S.T., Rhim, T., Park, C.S., Hong, S.J., Holgate, S.T., Holloway, J.W. and Shin, H.D. (2004) ADAM33 polymorphism: association with bronchial hyper-responsiveness in Korean asthmatics. Clinical and Experimental Allergy, 34, (6), 860-865. (doi:10.1111/j.1365-2222.2004.01977.x).

Manser, R.C., Leese, H.J. and Houghton, F.D. (2004) Effect of inhibiting nitric oxide production on mouse preimplantation embryo development and metabolism. Biology of Reproduction, 71, (2), 528-533. (doi:10.1095/biolreprod.103.025742).

Markovic, Olivera, O'Reilly, Gillian, Fussell, Helen M., Turner, Stephen J., Calder, Philip C., Howell, William M. and Grimble, Robert F. (2004) Role of single nucleotide polymorphisms of pro-inflammatory cytokine genes in the relationship between serum lipids and inflammatory parameters, and the lipid-lowering effect of fish oil in healthy males. Clinical Nutrition, 23, (5), 1084-1095. (doi:10.1016/j.clnu.2004.02.002).

Mattocks, C., White, H.E., Owen, N., Durston, V.J., Harvey, J.F. and Cross, N.C.P. (2004) An evaluation of the MassCLEAVE(tm) biochemistry for diagnostic screening. Journal of Medical Genetics, 41, pp.S75.

McCulley, Michelle C., Day, Ian N.M. and Holmes, Clive (2004) Association between interleukin 1-beta promoter (-511) polymorphism and depressive symptoms in Alzheimer's disease. American Journal of Medical Genetics.Part B, Neuropsychiatric Genetics, 124, (1), 50-53. (doi:10.1002/ajmg.b.20086).

McMullen, S., Osgerby, J.C., Thurston, L.M., Gadd, T.S., Wood, P.J., Wathes, D.C. and Michael, A.E. (2004) Alterations in placental 11ß-hydroxysteroid dehydrogenase (11ßHSD) activities and fetal cortisol:cortisone ratios induced by nutritional restriction prior to conception and at defined stages of gestation in ewes. Reproduction, 127, (6), 717-725. (doi:10.1530/rep.1.00070).

Morton, Newton and Collins, Andrew (2004) Optimal use of linkage disequilibrium, haplotypes, and integrated maps for positional cloning. In, Weale, M. (ed.) Genetic Epidemiology I: Fundamentals, Theory, Practice and Latest Developments. London, UK, Henry Stewart Talks. (The Biomedical & Life Sciences Collection).

Mulik, V., Wellesley, D., Sawdy, R. and Howe, D.T. (2004) Unusual prenatal presentation of Beckwith-Wiedemann syndrome. Prenatal diagnosis, 24, (7), 501-503. (doi:10.1002/pd.913).

Munarriz, Eliana, Barcaroli, Daniela, Stephanou, Anastasis, Townsend, Paul A., Maisse, Carine, Terrinoni, Alessandro, Neale, Michael H., Martin, Seamus J., Latchman, David S., Knight, Richard A., Melino, Gerry and De Laurenzi, Vincenzo (2004) PIAS-1 is a checkpoint regulator which affects exit from G1 and G2 by sumoylation of p73. Molecular and Cellular Biology, 24, (24), 10593-10610. (doi:10.1128/MCB.24.24.10593-10610.2004).

Parkinson, E.J., Townsend, P.A., Stephanou, A., Latchman, D.S., Eaton, S. and Pierro, A. (2004) The protective effect of moderate hypothermia during intestinal ischemia-reperfusion is associated with modification of hepatic transcription factor activation. Journal of Pediatric Surgery, 39, (5), 696-701. (doi:10.1016/j.jpedsurg.2004.01.025).

Piper, K., Brickwood, S., Turnpenny, L.W., Cameron, I.T., Ball, S.G., Wilson, D.I. and Hanley, N.A. (2004) Beta cell differentiation during early human pancreas development. Journal of Endocrinology, 181, (1), 11-23. (doi:10.1677/joe.0.1810011).

Reiter, Andreas, Walz, Christoph, Watmore, Ann, Schoch, Claudia, Blau, Ilona, Telford, Nick, Aruliah, Shilani, Yin, John, Vanstraelen, Danny, Barker, Helen, Taylor, Peter, O'Driscoli, Aisling, Schlegelberger, Brigitte, Berger, Ute, Hochhaus, Andreas, Hehlmann, Rüdiger, Chase, Andrew and Cross, Nicholas C.P. (2004) Recurrent fusion of PCM1 to JAK2 in atypical chronic myeloid leukemia and acute leukemia associated with the t(8;9)(p21-22;p23-24). Blood, 104, (11), 809A-810A.

Rodriguez, S., Gaunt, T.R., O'Dell, S.D., Chen, X.H., Gu, D., Hawe, E., Miller, G.J., Humphries, S.E. and Day, I.N. (2004) Haplotypic analyses of the IGF2-INS-TH gene cluster in relation to cardiovascular risk traits. Human Molecular Genetics, 13, (7), 715 - 725. (doi:10.1093/hmg/ddh070).

Rodriguez, Santiago, Chen, Xiao-he and Day, Ian N.M. (2004) Typing dinucleotide repeat loci using microplate array diagonal gel electrophoresis: proof of principle. Electrophoresis, 25, (7-8), 975-979. (doi:10.1002/elps.200305801).

Roumiantsev, Sergei, Krause, Daniela S., Neumann, Carola A., Dimitri, Christopher A., Asiedu, Frances, Cross, Nicholas C.P. and Van Etten, Richard A. (2004) Distinct stem cell myeloproliferative/T lymphoma syndromes induced by ZNF198-FGFR1 and BCR-FGFR1 fusion genes from 8p11 translocations. Cancer Cell, 5, (3), 287-298. (doi:10.1016/S1535-6108(04)00053-4).

Scarabelli, Tiziano M., Pasini, Evasio, Ferrari, Gianna, Ferrari, Mario, Stephanou, Anastasis, Lawrence, Kevin, Townsend, Paul, Chen-Scarabelli, Carol, Gitti, Gianluca, Saravolatz, Louis, Latchman, David, Knight, Richard A. and Gardin, Julius M. (2004) Warm blood cardioplegic arrest induces mitochondrial-mediated cardiomyocyte apoptosis associated with increased urocortin expression in viable cells. The Journal of Thoracic and Cardiovascular Surgery, 128, (3), 364-371. (doi:10.1016/j.jtcvs.2003.11.028).

Sharp, A., Kusz, K., Jaruzelska, J., Szarras-Czapnik, M., Wolski, J. and Jacobs, P. (2004) Familial X/Y translocations associated with variable sexual phenotype. Journal of Medical Genetics, 41, (6), 440-444. (doi:10.1136/jmg.2003.017624).

Simpson, C.L., Hansen, V.K., Sham, P.C., Collins, A., Powell, J.F. and Al-Chalabi, A. (2004) MaGIC: a program to generate targeted marker sets for genome-wide association studies. Biotechniques, 37, (6), 996-999.

Smith, Matthew J., Alharbi, Khalid K., Aldahmesh, Mohammed A., Pante-de-Sousa, Gabriella, Hou, Guangwei, Chen, Xiao-he, Gaunt, Tom R., Eccles, Diana M., Fox, Keith R. and Day, Ian N.M. (2004) MADGE-based technologies for identification of unknown mutations at the population level: MeltMADGE and EndoVII-MADGE. In, Hecker, Karl H. (ed.) Genetic Variance Detection: Technologies for Pharmacogenomics. USA, DNA Press, 145-152.

Stone, Edwin M., Braun, Terry A., Russell, Stephen R., Kuehn, Markus H., Lotery, Andrew J., Moore, Paula A., Eastman, Christopher G., Casavant, Thomas L. and Sheffield, Val C. (2004) Missense variations in the fibulin 5 gene and age-related macular degeneration. New England Journal of Medicine, 351, (4), 346-353. (doi:10.1056/NEJMoa040833).

Townsend, P.A., Scarabelli, T.M., Pasini, E., Gitti, G., Menegazzi, M., Suzuki, H., Knight, R.A., Latchman, D.S. and Stephanou, A. (2004) Epigallocatechin-3-gallate inhibits STAT-1 activation and protects cardiac myocytes from ischemia/reperfusion-induced apoptosis. FASEB Journal, 18, (13), 1621 - 1623. (doi:10.1096/fj.04-1716fje).

Veltman, Marijcke W.M., Thompson, Russell J., Roberts, Sian E., Thomas, N. Simon, Whittington, Joyce and Bolton, Patrick F. (2004) Prader-Willi syndrome : A study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders. European Child & Adolescent Psychiatry, 13, (1), 42-50. (doi:10.1007/s00787-004-0354-6).

Veltman, Marijcke W.M., Thompson, Russell J., Roberts, Sian E., Thomas, N. Simon, Whittington, Joyce and Bolton, Patrick F. (2004) Prader-Willi syndrome: a study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders. European child & adolescent psychiatry, 13, (1), 42-50. (doi:10.1007/s00787-004-0354-6).

Veugelers, Mark, Wilkes, David, Burton, Kimberly, McDermott, Deborah A., Song, Yan, Goldstein, Marsha M., La Perle, Krista, Vaughan, Carl. J., O'Hagan, Art, Bennett, Kenneth R., Meyer, Beat J., Legius, Eric, Karttunen, Mervi, Norio, Reijo, Kaariainen, Helena, Lavyne, Michael, Neau, Jean-Philippe, Richter, Gert, Kirali, Kaan, Farnsworth, Alan, Stapleton, Karen, Morelli, Peter, Takanashi, Yoshinori, Bamforth, John-Steven, Eitelberger, Franz, Noszian, Irene, Manfroi, Waldimiro, Powers, James, Mochizuki, Yoshihiko, Imai, Tsuneo, Ko, Gary T. C., Driscoll, Deborah A., Goldmuntz, Elizabeth, Edelberg, Jay M., Collins, Amanda, Eccles, Diana, Irvine, Alan D., McKnight, G. Stanley and Basson, Craig T. (2004) Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. Proceedings of the National Academy of Sciences of the United States of America, 101, (39), 14222-14227. (doi:10.1073/pnas.0405535101).

Vizmanos, J.L., Hernandez, R., Vidal, M.J., Larrayoz, M.J., Odero, M.D., Marin, J., Ardanaz, M.T., Calasanz, M.J. and Cross, N.C.P. (2004) Clinical variability of patients with the t(6;8)(q27;p12) and FGFR1OP-FGFR1 fusion: two further cases. The hematology journal, 5, (6), 534-537. (doi:10.1038/sj.thj.6200561).

Vizmanos, José, Novo, Francisco J., Roman, José P., Baxter, E. Joanna, Lahortiga, Idoya, Larrayoz, María J., Odero, María D., Giraldo, Pilar, Calasanz, María J. and Cross, Nicholas C.P. (2004) NIN, a gene encoding a CEP110-like centrosomal protein, is fused to PDGFRB in a patient with a t(5;14)(q33;q24) and an imatinib-responsive myeloproliferative disorder. Cancer Research, 64, (8), 2673-2676.

Ward, Alexandra M.V., Syddall, Holly E., Wood, Peter J., Dennison, Elaine M. and Phillips, David I. (2004) Central hypothalamic-pituitary-adrenal activity and the metabolic syndrome: Studies using the corticotrophin-releasing hormone test. Metabolism: Clinical and Experimental, 53, (6), 720-726. (doi:10.1016/j.metabol.2004.01.008).

Ward, Alexandra M.V., Syddall, Holly E., Wood, Peter J., Dennison, Elaine M. and Phillips, David I.W. (2004) Central hypothalamic-pituitary-adrenal activity and the metabolic syndrome: studies using the corticotrophin-releasing hormone test. Metabolism: Clinical and Experimental, 53, (6), 720-726. (doi:10.1016/j.metabol.2004.01.008).

Wellesley, D., De Vigan, C., Baena, N., Cariati, E., Stoll, C., Boyd, P.A. and Clementi, M. (2004) Contribution of ultrasonographic examination to the prenatal detection of trisomy 21: experience from 19 European registers. Annales de Génétique, 47, (4), 373-380. (doi:10.1016/j.anngen.2004.09.005).

White, H., Durston, V.J., Seller, A., Fratter, C., Harvey, J.F. and Cross, N.C.P. (2004) Detection and estimation of heteroplasmy for mitochondrial mutations using NanoChip and Pyrosequencing technology. Journal of Medical Genetics, 41, pp.S72.

White, H., Durston, V.J., Strike, P., Deutsch, S., Harvey, J.F. and Cross, N.C.P. (2004) Detection of chromosomal aneuploidy by paralogous gene quantification using the Pyrosequencing PSQ 96MA System. Journal of Medical Genetics, 41, pp.S72.

Wood, O., Mattocks, C J., Sillibourne, J., Owen, N., Harvey, J.F. and Cross, N.C.P. (2004) Standardised primer optimisation and design specification. Journal of Medical Genetics, 41, pp.S75.

Yang, I.A., Barton, S.J., Rorke, S., Cakebread, J.A., Keith, T.P., Clough, J.B., Holgate, S.T. and Holloway, J.W. (2004) Toll-like receptor 4 polymorphism and severity of atopy in asthmatics. Genes and Immunity, 5, (1), 41-45. (doi:10.1038/sj.gene.6364037).

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