Browse by Divisions pre August 2011

Bakke, M., Zhao, L., Hanley, N. A. and Parker, K. L. (2001) SF-1: a critical mediator of steroidogenesis. Molecular and Cellular Endocrinology, 171, (1-2), 5 - 7. (doi:10.1016/S0303-7207(00)00384-1).

Baur, M. P., Majumder, P. P., Amos, C. I., Feingold, J. I., King, T. M., Morton, N. E., Province, M. A., Spence, M. A. and Thomas, D. C. (2001) International Genetic Epidemiology Society: commentary on Darkness in El Dorado by Patrick Tierney. Genetic epidemiology, 21, (2), 81 - 104. (doi:10.1002/gepi.1020).

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).

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).

Castro, J., Rodriguez, S., Pardo, B. G., Sanchez, L. and Martinez, P. (2001) Population analysis of an unusual NOR-site polymorphism in brown trout (Salmo trutta L.). Heredity, 86, (3), 291 - 302.

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).

Cockwell, A. E., Davalos, I. P., Rivera, H. R. and Crolla, J. A. (2001) FISH characterisation of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation. American Journal of Medical Genetics, 103, (4), 289 - 294. (doi: 10.1002/ajmg.1516).

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).

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).

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).

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).

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.

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).

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, 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).

Farrant, R. Duncan, Walker, Valerie, Mills, Graham A., Mellor, John M. and Langley, G. John (2001) Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid: increased risk of vitamin B-6 deficiency and seizures in hyperprolinemia type II. Journal of Biological Chemistry, 276, (18), 15107-15116. (doi:10.1074/jbc.M010860200).

Forsti, Asta, Luo, Liping, Vorechovsky, Igor, Soderberg, Magnus, Lichtenstein, Paul and Hemminki, Kari (2001) 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. (doi:10.1093/carcin/22.1.27).

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.

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).

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).

Guymer, Robyn H., Héon, Elise, Lotery, Andrew J., Munier, Francis L., Schorderet, Daniel F., Baird, Paul N., McNeil, Robyn J., Haines, Heidi, Sheffield, Val C. and Stone, Edwin M. (2001) Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. Archives of Ophthalmology, 119, (5), 745-751.

Hanley, Neil A., Rainey, William E., Wilson, David I., Ball, Stephen G. and Parker, Keith L. (2001) Expression profiles of SF-1, DAX1, and CYP17 in the human fetal adrenal gland: potential interactions in gene regulation. Molecular Endocrinology, 15, (1), 57-68. (doi:10.1210/me.15.1.57).

Hassold, Terry J., Burrage, Lindsay C., Chan, Ernest R., Judis, LuAnn M., Schwartz, Stuart, James, S. Jill, Jacobs, Patricia A. and Thomas, N. Simon (2001) Maternal folate polymorphisms and the etiology of human nondisjunction. American Journal of Human Genetics, 69, (2), 434-439. (doi:10.1086/321971).

Hellier, K.D., Hatchwell, E., Duncombe, A.S., Kew, J. and Hammans, S.R. (2001) X-linked sideroblastic anaemia with ataxia: another mitochondrial disease? Journal of Neurology, Neurosurgery, and Psychiatry, 70, (1), 65-69. (doi:10.1136/jnnp.70.1.65).

Hill, M.E., Creed, G.A., McMullan, T.F., Tyers, A.G., Hilton-Jones, D., Robinson, D.O. and Hammans, S.R. (2001) Oculopharyngeal muscular dystrophy. Phenotypic and genotypic studies in a UK population. Brain, 124, (3), 522-526. (doi:10.1093/brain/124.3.522).

Hochhaus, A., Lahaye, T., Kreil, S., Berger, U., Metzgeroth, G. and Hehlmann, R., Schadendorf, D. (ed.) (2001) Selektive hemmung von tyrosinkinasen als neues therapeutisches prinzip in der onkologie [Selective inhibition of tyrosine kinases - a new therapeutic principle in oncology]. Onkologie, 24, (5), 65-71. (doi:10.1159/000055190).

Hochhaus, Andreas, Kreil, Sebastian, Corbin, Amie, La Rosee, Paul, Lahaye, Tanja, Berger, Ute, Cross, Nicholas C.P., Linkesch, Werner, Druker, Brian J., Hehlmann, Rudiger, Gambacorti- Passerini, Carlo, Corneo, Gianmarco and D'Incalci, Maurizio (2001) Roots of clinical resistance to STI-571 cancer therapy. Science, 293, (5538), 2163. (doi:10.1126/science.293.5538.2163a).

Holgate, S.T., Lackie, P.M., Howarth, P.H., Roche, W.R., Puddicombe, S.M., Richter, A., Wilson, S.J., Holloway, J.W. and Davies, D.E. (2001) Invited lecture: activation of the epithelial mesenchymal trophic unit in the pathogenesis of asthma. International Archives of Allergy and Immunology, 124, (1-3), 253-258. (doi:10.1159/000053726).

Holloway, J.W., Lonjou, C., Beghe, B., Peng, Q., Gaunt, T.R., Gomes, I., Hall, I.P., Dewar, J.C., Wilkinson, J., Thomas, N.S., Holgate, S.T. and Morton, N.E. (2001) Linkage analysis of the 5q31-33 candidate region for asthma in 240 UK families. Genes and Immunity, 2, (1), 20-24.

Humphries, S.E., Talmud, P.J., Hawe, E., Bolla, M., Day, I.N. and Miller, G.J. (2001) Apolipoprotein E4 and coronary heart disease in middle-aged men who smoke: a prospective study. The Lancet, 358, (9276), 115-119. (doi:10.1016/S0140-6736(01)05330-2).

Hyslop, Louise A., Carroll, Michael, Nixon, Victoria L., McDougall, Alex and Jones, Keith T. (2001) Simultaneous measurement of intracellular nitric oxide and free calcium levels in chordate eggs demonstrates that nitric oxide has no role at fertilization. Developmental Biology, 234, (1), 216-230. (doi:10.1006/dbio.2001.0252).

Jaju, Rina J., Fidler, Carrie, Haas, Oskar A., Strickson, Amanda J., Watkins, Fiona, Clark, Kevin, Cross, Nicholas C.P., Cheng, Jan-Fang, Aplan, Peter D., Kearney, Lyndal, Boultwood, Jacqueline and Wainscoat, James S. (2001) A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia. Blood, 98, (4), 1264-1267. (doi:10.1182/blood.V98.4.1264).

Jones, Elizabeth. A., Clement-Jones, Mark, James, Oliver. F. W. and Wilson, David. I. (2001) Differences between human and mouse alpha-fetoprotein expression during early development. Journal of Anatomy, 198, (5), 555 - 559. (doi:10.1046/j.1469-7580.2001.19850555.x).

Joyce, C.A., Dennis, N.R., Cooper, S. and Browne, C.E. (2001) Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH. Human Genetics, 109, (4), 440-451. (doi:10.1007/s004390100588).

Ke, Xiayi, Collins, Andrew and Ye, Shu (2001) PIRA PCR designer for restriction analysis of single nucleotide polymorphisms. Bioinformatics, 17, (9), 838-839. (doi:10.1093/bioinformatics/17.9.838).

Ke, Xiayi, Tapper, William and Collins, Andrew (2001) LDB2000: sequence-based integrated maps of the human genome. Bioinformatics, 17, (7), 581-586.

Kreil, S., Muller, M.C., Lahaye, T., La Rosee, P., Corbin, A.S., Schoch, C., Cross, N.C.P., Berger, U., Rieder, H., Druker, B.J., Gschaidmeier, H., Hehlmann, R. and Hochhaus, A. (2001) Molecular and chromosomal mechanisms of resistance in CML patients after STI571 (Glivec) therapy. Blood, 98, (11), pp.435A.

Lewis, Charlotte A., Townsend, Paul A. and Isacke, Clare M. (2001) Ca(2+)/calmodulin-dependent protein kinase mediates the phosphorylation of CD44 required for cell migration on hyaluronan. The Biochemical Journal, 357, (3), 843-850.

Lotery, A.J., Malik, A., Shami, S.A., Sindhi, M., Chohan, B., Maqbool, C., Moore, P.A., Denton, M.J. and Stone, E.M. (2001) CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation. Ophthalmic Genetics, 22, (3), 163 - 169. (doi:10.1076/opge.22.3.163.2222).

Lotery, Andrew J., Jacobson, Samuel G., Fishman, Gerald A., Weleber, Richard G., Fulton, Anne B., Namperumalsamy, P., Heon, Elise, Levin, Alex V., Grover, Sandeep, Rosenow, Justin R., Kopp, Kelly K., Sheffield, Val C. and Stone, Edwin M. (2001) Mutations in the CRB1 gene cause Leber congenital amaurosis. Archives of Ophthalmology, 119, (3), 415-420.

Maguire, Andrew, Hellier, Kate, Hammans, Simon and May, Alison (2001) X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. British Journal of Haematology, 115, (4), 910-917. (doi:10.1046/j.1365-2141.2001.03015.x).

Malmer, B., Iselius, L., Holmberg, E., Collins, A., Henriksson, R. and Grönberg, H. (2001) Genetic epidemiology of glioma. British Journal of Cancer, 84, (3), 429-434. (doi:10.1054/bjoc.2000.1612).

Mills, Graham A. and Walker, Valerie (2001) Headspace solid-phase microextraction profiling of volatile compounds in urine: application to metabolic investigations. Journal of Chromatography B: Biomedical Sciences and Applications, 753, (2), 259-268. (doi:10.1016/S0378-4347(00)00554-5).

Morton, N. E. (2001) Complex inheritance: the 21st century. Advances in Genetics, 42, 535-543.

Morton, N.E., Zhang, W., Taillon-Miller, P., Ennis, S., Kwok, P.Y. and Collins, A. (2001) The optimal measure of allelic association. Proceedings of the National Academy of Sciences of the United States of America, 98, (9), 5217-5221. (doi:10.1073/pnas.091062198).

Morton, Newton E. (2001) Darkness in El Dorado: human genetics on trial. Journal of Genetics, 80, (1), 45-52.

Mughal, T. I., Yong, A., Szydlo, R. M., Dazzi, F., Olavarria, E., Van Rhee, F., Kaeda, J., Cross, N. C., Craddock, C., Kanfer, E., Apperley, J. and Goldman, J. M. (2001) Molecular studies in patients with chronic myeloid leukaemia in remission 5 years after allogeneic stem cell transplant define the risk of subsequent relapse. British journal of haematology, 115, (3), 569 - 574. (doi:10.1046/j.1365-2141.2001.03155.x).

Olavarria, E., Kanfer, E., Szydlo, R., Kaeda, J., Rezvani, K., Cwynarski, K., Pocock, C., Dazzi, F., Craddock, C., Apperley, J. F., Cross, N. C. and Goldman, J. M. (2001) Early detection of BCR-ABL transcripts by quantitative reverse transcriptase-polymerase chain reaction predicts outcome after allogeneic stem cell transplantation for chronic myeloid leukemia. Blood, 97, (6), 1560 - 1565.

Omar, H., Chamberlin, A., Walker, V. and Wood, P.J. (2001) Immulite 2000 parathyroid hormone assay: stability of parathyroid hormone in EDTA blood kept at room temperature for 48 h. Annals of Clinical Biochemistry, 38, (5), 561-563.

Palmer, L.J., Cookson, W.O., Deichmann, K.A., Holloway, J.W. and Laitinen, T. (2001) Single region linkage analyses of asthma: description of data sets. Genetic epidemiology, 21, (Supp 1), 9-15.

Palmer, L.J., Lonjou, C., Barnes, K., Chen, H., Cookson, W.O.C.M., Deichmann, K.A., Holloway, J.W., Laitinen, T., Wjst, M. and Morton, N.E. (2001) A retrospective collaboration on chromosome 5 by the International Consortium on Asthma Genetics (COAG). Clinical and Experimental Allergy, 31, (1), 152-154. (doi:10.1046/j.1365-2222.2001.01040.x).

Palmer, Lyle J., Barnes, Kathleen C., Burton, Paul R., Chen, Hong, Cookson, William O.C.M., Deichmann, Klaus A., Elston, Robert C., Holloway, John W., Jacobs, Kevin B., Laitinen, Tarja and Wjst, Matthias Collaborative Study on the Genetics of Asthma (2001) Meta-analysis for linkage to asthma and atopy in the chromosome 5q31-33 candidate region. Human Molecular Genetics, 10, (8), 891-99. (doi:10.1093/hmg/10.8.891). (PMID:21523954).

Peacock, C.S., Collins, A., Shaw, M.-A., Silveira, F., Costa, J., Coste, C.H., Nascimento, M.D., Siddiqui, R., Shaw, J.J. and Blackwell, J.M. (2001) Genetic epidemiology of visceral leishmaniasis in northeastern Brazil. Genetic Epidemiology, 20, (3), 383-396. (doi:10.1002/gepi.8).

Plantaz, D. J., Van Roy, N., Lastowska, M., Bown, N., Combaret, V., Favrot, M. C., Delattre, O., Michon, J., Benard, J., Hartmann, O., Nicholson, J. C., Ross, F. M., Brinkschmidt, C., Laureys, G., Caron, H., Matthay, K. K., Feuerstein, B. G. and Speleman, F. (2001) Comparative genomic hybridization (CGH) analysis of stage 4 neuroblastoma reveals high frequency of 11q deletion in tumors lacking MYCN amplification. International journal of cancer, 91, (5), 680 - 686. (doi:10.1002/1097-0215(200002)9999:9999<::AID-IJC1114>3.0.CO;2-R).

Pourgourides, E., Heath, C., Melo, J.V., Rahemtulla, A. and Cross, N.C.P. (2001) Specific action of FGFR inhibitors against t(4;14) positive myeloma cells. Blood, 98, (11), 370A-371A.

Price, C.J.S., Frankel, J.P. and Hammans, S.R. (2001) Palatal palsy in dermatomyositis. European Journal of Neurology, 8, (2), 197-198. (doi:10.1111/j.1468-1331.2001.00184.x).

Reiter, A., Saussele, S., Grimwade, D., Wiemels, J.L., Segal, M., Weisser, A., Hochhaus, A., Willer, A., Reichert, A., Buchner, T., Lengfelder, E., Hehlmann, R. and Cross, N.C.P. (2001) Genomic anatomy of the t(15;17): significant subclustering of genomic breakpoints within RAR alpha intron. Blood, 98, (11), pp.586A.

Reynolds, Rebecca M., Walker, Brian R., Syddall, Holly E., Andrew, Ruth, Wood, Peter J., Whorwood, Christopher B. and Phillips, David I. W. (2001) Altered control of cortisol secretion in adult men with low birth weight and cardiovascular risk factors. Journal of Clinical Endocrinology and Metabolism, 86, (1), 245-250.

Reynolds, Rebecca M., Walker, Brian R., Syddall, Holly E., Whorwood, Christopher B., Wood, Peter J. and Phillips, David I.W. (2001) Elevated plasma cortisol in glucose-intolerant men: differences in responses to glucose and habituation to venepuncture. Journal of Clinical Endocrinology and Metabolism, 86, (3), 1149-1153.

Rodriguez, Santiago, Visedo, Guillermo and Zapata, Carlos (2001) Detection of errors in dinucleotide repeat typing by nondenaturing electrophoresis. Electrophoresis, 22, (13), 2656-2664. (doi:10.1002/1522-2683(200108)22:13<2656::AID-ELPS2656>3.0.CO;2-6).

Salahshor, Sima, Haixin, Lei, Huo, Huagang, Kristensen, Vessela N., Loman, Niklas, Sjoberg-Margolin, Sara, Borg, Ake, Borresen-Dale, Anne-Lise, Vorechovsky, Igor and Lindblom, Annika (2001) Low frequency of E-cadherin alterations in familial breast cancer. Breast cancer research, 3, (3), 199-207. (doi:10.1186/bcr295).

Sharp, Andrew, Robinson, David O. and Jacobs, Patricia (2001) Absence of correlation between late-replication and spreading of X inactivation in an X;autosome translocation. Human Genetics, 109, (3), 295-302. (doi:10.1007/s004390100578).

Shaw, M.-A., Donaldson, I.J., Collins, A., Peacock, C.S., Lins-Lainson, Z., Shaw, J.J., Ramos, F., Silveira, F. and Blackwell, J.M. (2001) Association and linkage of leprosy phenotypes with HLA class II and tumour necrosis factor genes. Genes and Immunity, 2, (4), 196-204.

Shield, J., Owen, K., Robinson, D.O., Mackay, D., Ellard, S., Hattersley, A. and Temple, I.K. (2001) Letter. Observations. Maturity onset diabetes of the young (MODY) and early onset type II diabetes are not caused by loss of imprinting at the transient neonatal diabetes (TNDM) locus. Diabetologia, 44, (7), 924-924. (doi:10.1007/s001250100557).

Sohal, Jastinder, Chase, Andrew, Mould, Sarah, Corcoran, Martin, Oscier, David, Iqbal, Sameena, Parker, Sally, Welborn, Jeanna, Harris, Richard I., Martinelli, Giovanni, Montefusco, Vittorio, Sinclair, Paul, Wilkins, Bridget S., Van den Berg, Henk, Vanstraelen, Danny, Goldman, John M. and Cross, Nicholas C.P. (2001) Identification of four new translocations involving FGFR1 in myeloid disorders. Genes, chromosomes and cancer, 32, (2), 155-163. (doi:10.1002/gcc.1177).

Sonnenberg-Riethmacher, Eva, Miehe, Michaela, Stolt, Claus C., Goerich, Derk E., Wegner, Michael and Riethmacher, Dieter (2001) Development and degeneration of dorsal root ganglia in the absence of the HMG-domain transcription factor Sox10. Mechanisms of Development, 109, (2), 253-265. (doi:10.1016/S0925-4773(01)00547-0).

Stankovic, T., Taylor, A. M., Yuille, M. R. and Vorechovsky, I. (2001) Recurrent ATM mutations in T-PLL on diverse haplotypes: no support for their germline origin. Blood, 97, (5), 1517 - 1518.

Steer, E. J., Goldman, J. M. and Cross, N. C. (2001) Mutations of the transcription factor AML1/CBFA2 are uncommon in blastic transformation of chronic myeloid leukaemia. Leukemia, 15, (3), 476 - 477.

Swerdlow, A.J., Hermon, C., Jacobs, P.A., Alberman, E., Beral, V., Daker, M., Fordyce, A. and Youings, S. (2001) Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study. Annals of human genetics, 65, (2), 177-188. (doi:10.1046/j.1469-1809.2001.6520177.x).

Taillandier, A., Lia-Baldini, A.S., Mouchard, M., Robin, B., Muller, F., Simon-Bouy, B., Serre, J.L., Bera-Louville, A., Bonduelle, M., Eckhardt, J., Gaillard, D., Myhre, A.G., Kortge-Jung, S., Larget-Piet, L., Malou, E., Sillence, D., Temple, I.K., Viot, G. and Mornet, E. (2001) Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia. Human Mutation, 18, (1), 83-84. (doi:10.1002/humu.1154).

Tapper, William J., Morton, Newton E., Dunham, Ian, Ke, Xiayi and Collins, Andrew (2001) A sequence-based integrated map of chromosome 22. Genome Research, 11, (7), 1290-1295. (doi:10.1101/gr.161301).

Thomas, N. Simon, Ennis, Sarah, Sharp, Andrew J., Durkie, Miranda, Hassold, Terry J., Collins, Andrew R. and Jacobs, Patricia A. (2001) Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors. Human Molecular Genetics, 10, (3), 243-250. (doi:10.1093/hmg/10.3.243).

Thomas, N.S., Roberts, S.E., Browne, C.E., Dennis, N.R. and Jacobs, P.A. (2001) Molecular characterisation of interstitial duplications and triplications involving chromosome 15q11-q13. American Journal of Human Genetics, 69, (4), p.556.

Valerio, G., Franzese, A., Palmieri, A., Mackay, D.J.G., Gardner, R.J. and Temple, I.K. (2001) Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6. Journal of Pediatric Endocrinology and Metabolism, 14, (7), 897-900.

Vandesompele, Jo, Speleman, Frank, Van Roy, Nadine, Laureys, Genevieve, Brinskchmidt, Christian, Christiansen, Holger, Lampert, Fritz, Lastowska, Maria, Bown, Nick, Pearson, Andy, Nicholson, James C., Ross, Fiona, Combaret, Valerie, Delattre, Olivier, Feuerstein, Bert G. and Plantaz, Dominique (2001) Multicentre analysis of patterns of DNA gains and losses in 204 neuroblastoma tumors: how many genetic subgroups are there? Medical and Pediatric Oncology, 36, (1), 5-10. (doi:10.1002/1096-911X(20010101)36:1<5::AID-MPO1003>3.0.CO;2-E).

Varrault, A., Bilanges, B., Mackay, D.J., Basyuk, E., Ahr, B.C., Fernandez, C., Robinson, D.O., Bockaert, J. and Journot, L. (2001) Characterization of the methylation-sensitive promoter of the imprinted ZAC gene supports its role in transient neonatal diabetes mellitus. Journal of Biological Chemistry, 276, (22), 18653-18656. (doi:10.1074/jbc.C100095200).

Vorechovsky, I., Kralovicova, J., Laycock, M. D., Webster, A. D., Marsh, S. G., Madrigal, A. and Hammarstrom, L. (2001) Short tandem repeat (STR) haplotypes in HLA: an integrated 50-kb STR/linkage disequilibrium/gene map between the RING3 and HLA-B genes and identification of STR haplotype diversification in the class III region. European Journal of Human Genetics, 9, (8), 590 - 598.

Vorechovsky, I., Webster, A.D. and Hammarstrom, L. (2001) Mapping genes underlying complex disorders: progress on IgA deficiency and common variable immunodeficiency. Advances in Experimental Medicine and Biology, 495, 183-190.

Vorechovsky, Igor, Kralovicova, Jana, Tchilian, Elma, Masterman, Thomas, Zhang, Zhiping, Ferry, Berne, Misbah, Siraj, Chapel, Helen, Webster, David, Hellgren, Dennis, Anvret, Maria, Hillert, Jan, Hammarstrom, Lennart and Beverley, Peter C. (2001) Does 77C→G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus? Nature Genetics, 29, (1), 22-23. (doi:10.1038/ng723).

Walker, V. and Mills, G.A. (2001) Urine 4-heptanone: a beta-oxidation product of 2-ethylhexanoic acid from plasticisers. Clinica Chimica Acta, 306, (1-2), 51 - 61. (doi:10.1016/S0009-8981(01)00390-4).

Watt, Alistair J., Jones, Elizabeth A., Ure, Jan M., Peddie, Diana, Wilson, David I. and Forrester, Lesley M. (2001) A gene trap integration provides an early in situ marker for hepatic specification of the foregut endoderm. Mechanisms of Development, 100, (2), 205-215. (doi:10.1016/S0925-4773(00)00530-X).

Wegner, Michael and Riethmacher, Dieter (2001) Chronicles of a switch hunt: gcm genes in development. Trends in Genetics, 17, (5), 286-290. (doi:10.1016/S0168-9525(01)02275-2).

Wellesley, Diana and Howe, David T. (2001) Fetal renal anomalies and genetic syndromes. Prenatal diagnosis, 21, (11), 992-1003. (doi:10.1002/pd.209).

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