The University of Southampton
University of Southampton Institutional Repository

Items where Division is "Faculties (pre 2011 reorg) > Faculty of Medicine Health & Life Sciences (pre 2011 reorg) > Medicine (pre 2011 reorg) > Human Genetics (pre 2011 reorg)
Faculties (pre 2018 reorg) > Faculty of Medicine (pre 2018 reorg) > Medicine (pre 2011 reorg) > Human Genetics (pre 2011 reorg)" and Year is 2001

Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
Group by: No Grouping | Authors/Creators | Item Type
Number of items: 93.

SF-1: a critical mediator of steroidogenesis - M. Bakke, L. Zhao, N. A. Hanley and K. L. Parker
Type: Article | 2001 | Item not available on this server.

International Genetic Epidemiology Society: commentary on Darkness in El Dorado by Patrick Tierney - M. P. Baur, P. P. Majumder, C. I. Amos, J. I. Feingold, T. M. King, N. E. Morton, M. A. Province, M. A. Spence and D. C. Thomas
Type: Article | 2001 | Item not available on this server.

Myeloproliferative disorders - Anthony J. Bench, Nicholas C. Cross, Brian J.P. Huntly, Elisabeth P. Nacheva and Anthony R. Green
Type: Article | 2001 | Item not available on this server.

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders - Patrick Farrar Bolton, N.R. Dennis, C.E. Browne, N.S. Thomas, M.W.M. Veltman, R.J. Thompson and P. Jacobs
Type: Article | 2001 | Item not available on this server.

Allelic association with SNPs: Metrics, populations, and the linkage disequilibrium map - A. COLLINS, S. ENNIS, P. Taillon-Miller, P.Y. Kwok and N. E. MORTON
Type: Article | 2001 | Item not available on this server.

Population analysis of an unusual NOR-site polymorphism in brown trout (Salmo trutta L.) - J. Castro, S. Rodriguez, B. G. Pardo, L. Sanchez and P. Martinez
Type: Article | 2001 | Item not available on this server.

Cytogenetics of chronic myeloid leukaemia - Andrew Chase, Brian. J. P. Huntly and Nicholas. C. P. Cross
Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

Epidemiology and the genetic basis of disease - Ian N.M. Day, Dongfeng Gu, Rosalind H. Ganderton, Emmanuel Spanakis and Shu Ye
Type: Article | 2001 | Item not available on this server.

The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins - Asuman Demiroglu, E. Joanna Steer, Carol Heath, Kerry Taylor, Mark Bentley, Steven L. Allen, Prasad Koduru, Judith P. Brody, Geoffrey Hawson, Robyn Rodwell, Mary-Lou Doody, Fernando Carnicero, Andreas Reiter, John M. Goldman, Junia V. Melo and Nicholas C.P. Cross
Type: Article | 2001 | Item availability restricted.

Birthweight, vitamin D receptor genotype and the programming of osteoporosis - Elaine M. Dennison, Nigel K. Arden, Richard W. Keen, Holly Syddall, Ian N.M. Day, Timothy D. Spector and Cyrus Cooper
Type: Article | 2001 | Item not available on this server.

A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour - Diana Eccles, John Harvey, Adrian Bateman and Fiona Ross
Type: Article | 2001 | Item not available on this server.

A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals - Navaratnam Elanko, Julie S. Sibbring, Kay A. Metcalfe, Jill Clayton-Smith, Dian Donnai, I. Karen Temple, Steven A. Wall and Andrew O.M. Wilkie
Type: Article | 2001 | Item not available on this server.

Allelic association discriminates draft orders - S Ennis, A Collins, W Tapper, A Murray, J N MacPherson and N E Morton
Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

Allelic imbalance on chromosomes 13 and 17 and mutation analysis of BRCA1 and BRCA2 genes in monozygotic twins concordant for breast cancer - Asta Forsti, Liping Luo, Igor Vorechovsky, Magnus Soderberg, Paul Lichtenstein and Kari Hemminki
Type: Article | 2001 | Item not available on this server.

Positive associations between single nucleotide polymorphisms in the IGF2 gene region and body mass index in adult males - Tom R. Gaunt, Jacqueline A. Cooper, George J. Miller, Ian N.M. Day and Sandra O'Dell
Type: Article | 2001 | Item not available on this server.

Clinical and molecular stratification of disease risk in medulloblastoma - R. Gilbertson, C. Wickramasinghe, R. Hernan, V. Balaji, D. Hunt, D. Jones-Wallace, J. Crolla, R. Perry, J. Lunec, A. Pearson and D. Ellison
Type: Article | 2001 | Item not available on this server.

Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration - Robyn H. Guymer, Elise Héon, Andrew J. Lotery, Francis L. Munier, Daniel F. Schorderet, Paul N. Baird, Robyn J. McNeil, Heidi Haines, Val C. Sheffield and Edwin M. Stone
Type: Article | 2001 | Item not available on this server.

Expression profiles of SF-1, DAX1, and CYP17 in the human fetal adrenal gland: potential interactions in gene regulation - Neil A. Hanley, William E. Rainey, David I. Wilson, Stephen G. Ball and Keith L. Parker
Type: Article | 2001 | Item availability restricted.

Maternal folate polymorphisms and the etiology of human nondisjunction - Terry J. Hassold, Lindsay C. Burrage, Ernest R. Chan, LuAnn M. Judis, Stuart Schwartz, S. Jill James, Patricia A. Jacobs and N. Simon Thomas
Type: Article | 2001 | Item not available on this server.

X-linked sideroblastic anaemia with ataxia: another mitochondrial disease? - K.D. Hellier, E. Hatchwell, A.S. Duncombe, J. Kew and S.R. Hammans
Type: Article | 2001 | Item not available on this server.

Oculopharyngeal muscular dystrophy. Phenotypic and genotypic studies in a UK population - M.E. Hill, G.A. Creed, T.F. McMullan, A.G. Tyers, D. Hilton-Jones, D.O. Robinson and S.R. Hammans
Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

Roots of clinical resistance to STI-571 cancer therapy - Andreas Hochhaus, Sebastian Kreil, Amie Corbin, Paul La Rosee, Tanja Lahaye, Ute Berger, Nicholas C.P. Cross, Werner Linkesch, Brian J. Druker, Rudiger Hehlmann, Carlo Gambacorti- Passerini, Gianmarco Corneo and Maurizio D'Incalci
Type: Article | 2001 | Item not available on this server.

Invited lecture: activation of the epithelial mesenchymal trophic unit in the pathogenesis of asthma - S.T. Holgate, P.M. Lackie, P.H. Howarth, W.R. Roche, S.M. Puddicombe, A. Richter, S.J. Wilson, J.W. Holloway and D.E. Davies
Type: Article | 2001 | Item not available on this server.

Linkage analysis of the 5q31-33 candidate region for asthma in 240 UK families - J.W. Holloway, C. Lonjou, B. Beghe, Q. Peng, T.R. Gaunt, I. Gomes, I.P. Hall, J.C. Dewar, J. Wilkinson, N S Thomas, S.T. Holgate and N.E. Morton
Type: Article | 2001 | Item not available on this server.

Apolipoprotein E4 and coronary heart disease in middle-aged men who smoke: a prospective study - S.E. Humphries, P.J. Talmud, E. Hawe, M. Bolla, I.N. Day and G.J. Miller
Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia - Rina J. Jaju, Carrie Fidler, Oskar A. Haas, Amanda J. Strickson, Fiona Watkins, Kevin Clark, Nicholas C.P. Cross, Jan-Fang Cheng, Peter D. Aplan, Lyndal Kearney, Jacqueline Boultwood and James S. Wainscoat
Type: Article | 2001 | Item not available on this server.

Differences between human and mouse alpha-fetoprotein expression during early development - Elizabeth. A. Jones, Mark Clement-Jones, Oliver. F. W. James and David. I. Wilson
Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

Molecular and chromosomal mechanisms of resistance in CML patients after STI571 (Glivec) therapy - S. Kreil, M.C. Muller, T. Lahaye, P. La Rosee, A.S. Corbin, C. Schoch, N.C.P. Cross, U. Berger, H. Rieder, B.J. Druker, H. Gschaidmeier, R. Hehlmann and A. Hochhaus
Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation - A.J. Lotery, A. Malik, S.A. Shami, M. Sindhi, B. Chohan, C. Maqbool, P.A. Moore, M.J. Denton and E.M. Stone
Type: Article | 2001 | Item not available on this server.

Mutations in the CRB1 gene cause Leber congenital amaurosis - Andrew J. Lotery, Samuel G. Jacobson, Gerald A. Fishman, Richard G. Weleber, Anne B. Fulton, P. Namperumalsamy, Elise Heon, Alex V. Levin, Sandeep Grover, Justin R. Rosenow, Kelly K. Kopp, Val C. Sheffield and Edwin M. Stone
Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

Genetic epidemiology of glioma - B. Malmer, L. Iselius, E. Holmberg, A. Collins, R. Henriksson and H. Grönberg
Type: Article | 2001

Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

Molecular studies in patients with chronic myeloid leukaemia in remission 5 years after allogeneic stem cell transplant define the risk of subsequent relapse - T. I. Mughal, A. Yong, R. M. Szydlo, F. Dazzi, E. Olavarria, F. Van Rhee, J. Kaeda, N. C. Cross, C. Craddock, E. Kanfer, J. Apperley and J. M. Goldman
Type: Article | 2001 | Item not available on this server.

Early detection of BCR-ABL transcripts by quantitative reverse transcriptase-polymerase chain reaction predicts outcome after allogeneic stem cell transplantation for chronic myeloid leukemia - E. Olavarria, E. Kanfer, R. Szydlo, J. Kaeda, K. Rezvani, K. Cwynarski, C. Pocock, F. Dazzi, C. Craddock, J. F. Apperley, N. C. Cross and J. M. Goldman
Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

Single region linkage analyses of asthma: description of data sets - L.J. Palmer, W.O. Cookson, K.A. Deichmann, J.W. Holloway and T. Laitinen
Type: Article | 2001 | Item not available on this server.

A retrospective collaboration on chromosome 5 by the International Consortium on Asthma Genetics (COAG) - L.J. Palmer, C. Lonjou, K. Barnes, H. Chen, W.O.C.M. Cookson, K.A. Deichmann, J.W. Holloway, T. Laitinen, M. Wjst and N.E. Morton
Type: Article | 2001 | Item not available on this server.

Meta-analysis for linkage to asthma and atopy in the chromosome 5q31-33 candidate region. - Lyle J. Palmer, Kathleen C. Barnes, Paul R. Burton, Hong Chen, William O.C.M. Cookson, Klaus A. Deichmann, Robert C. Elston, John W. Holloway, Kevin B. Jacobs, Tarja Laitinen and Matthias Wjst
Type: Article | 2001 | Item not available on this server.

Genetic epidemiology of visceral leishmaniasis in northeastern Brazil - C.S. Peacock, A. Collins, M.-A. Shaw, F. Silveira, J. Costa, C.H. Coste, M.D. Nascimento, R. Siddiqui, J.J. Shaw and J.M. Blackwell
Type: Article | 2001 | Item not available on this server.

Comparative genomic hybridization (CGH) analysis of stage 4 neuroblastoma reveals high frequency of 11q deletion in tumors lacking MYCN amplification - D. J. Plantaz, N. Van Roy, M. Lastowska, N. Bown, V. Combaret, M. C. Favrot, O. Delattre, J. Michon, J. Benard, O. Hartmann, J. C. Nicholson, F. M. Ross, C. Brinkschmidt, G. Laureys, H. Caron, K. K. Matthay, B. G. Feuerstein and F. Speleman
Type: Article | 2001 | Item not available on this server.

Specific action of FGFR inhibitors against t(4;14) positive myeloma cells - E. Pourgourides, C. Heath, J.V. Melo, A. Rahemtulla and N.C.P. Cross
Type: Article | 2001 | Item not available on this server.

Palatal palsy in dermatomyositis - C.J.S. Price, J.P. Frankel and S.R. Hammans
Type: Article | 2001 | Item not available on this server.

Genomic anatomy of the t(15;17): significant subclustering of genomic breakpoints within RAR alpha intron - A. Reiter, S. Saussele, D. Grimwade, J.L. Wiemels, M. Segal, A. Weisser, A. Hochhaus, A. Willer, A. Reichert, T. Buchner, E. Lengfelder, R. Hehlmann and N.C.P. Cross
Type: Article | 2001 | Item not available on this server.

Altered control of cortisol secretion in adult men with low birth weight and cardiovascular risk factors - Rebecca M. Reynolds, Brian R. Walker, Holly E. Syddall, Ruth Andrew, Peter J. Wood, Christopher B. Whorwood and David I. W. Phillips
Type: Article | 2001 | Item availability restricted.

Elevated plasma cortisol in glucose-intolerant men: differences in responses to glucose and habituation to venepuncture - Rebecca M. Reynolds, Brian R. Walker, Holly E. Syddall, Christopher B. Whorwood, Peter J. Wood and David I.W. Phillips
Type: Article | 2001 | Item availability restricted.

Detection of errors in dinucleotide repeat typing by nondenaturing electrophoresis - Santiago Rodriguez, Guillermo Visedo and Carlos Zapata
Type: Article | 2001 | Item not available on this server.

Low frequency of E-cadherin alterations in familial breast cancer - Sima Salahshor, Lei Haixin, Huagang Huo, Vessela N. Kristensen, Niklas Loman, Sara Sjoberg-Margolin, Ake Borg, Anne-Lise Borresen-Dale, Igor Vorechovsky and Annika Lindblom
Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

Association and linkage of leprosy phenotypes with HLA class II and tumour necrosis factor genes - M.-A. Shaw, I.J. Donaldson, A. Collins, C.S. Peacock, Z. Lins-Lainson, J.J. Shaw, F. Ramos, F. Silveira and J.M. Blackwell
Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

Identification of four new translocations involving FGFR1 in myeloid disorders - Jastinder Sohal, Andrew Chase, Sarah Mould, Martin Corcoran, David Oscier, Sameena Iqbal, Sally Parker, Jeanna Welborn, Richard I. Harris, Giovanni Martinelli, Vittorio Montefusco, Paul Sinclair, Bridget S. Wilkins, Henk Van den Berg, Danny Vanstraelen, John M. Goldman and Nicholas C.P. Cross
Type: Article | 2001 | Item not available on this server.

Development and degeneration of dorsal root ganglia in the absence of the HMG-domain transcription factor Sox10 - Eva Sonnenberg-Riethmacher, Michaela Miehe, Claus C. Stolt, Derk E. Goerich, Michael Wegner and Dieter Riethmacher
Type: Article | 2001 | Item not available on this server.

Recurrent ATM mutations in T-PLL on diverse haplotypes: no support for their germline origin - T. Stankovic, A. M. Taylor, M. R. Yuille and I. Vorechovsky
Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study - A.J. Swerdlow, C. Hermon, P.A. Jacobs, E. Alberman, V. Beral, M. Daker, A. Fordyce and S. Youings
Type: Article | 2001 | Item not available on this server.

Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia - A. Taillandier, A.S. Lia-Baldini, M. Mouchard, B. Robin, F. Muller, B. Simon-Bouy, J.L. Serre, A. Bera-Louville, M. Bonduelle, J. Eckhardt, D. Gaillard, A.G. Myhre, S. Kortge-Jung, L. Larget-Piet, E. Malou, D. Sillence, I.K. Temple, G. Viot and E. Mornet
Type: Article | 2001 | Item not available on this server.

A sequence-based integrated map of chromosome 22 - William J. Tapper, Newton E. Morton, Ian Dunham, Xiayi Ke and Andrew Collins
Type: Article | 2001 | Item not available on this server.

Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors - N. Simon Thomas, Sarah Ennis, Andrew J. Sharp, Miranda Durkie, Terry J. Hassold, Andrew R. Collins and Patricia A. Jacobs
Type: Article | 2001 | Item not available on this server.

Molecular characterisation of interstitial duplications and triplications involving chromosome 15q11-q13 - N.S. Thomas, S.E. Roberts, C.E. Browne, N.R. Dennis and P.A. Jacobs
Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

Multicentre analysis of patterns of DNA gains and losses in 204 neuroblastoma tumors: how many genetic subgroups are there? - Jo Vandesompele, Frank Speleman, Nadine Van Roy, Genevieve Laureys, Christian Brinskchmidt, Holger Christiansen, Fritz Lampert, Maria Lastowska, Nick Bown, Andy Pearson, James C. Nicholson, Fiona Ross, Valerie Combaret, Olivier Delattre, Bert G. Feuerstein and Dominique Plantaz
Type: Article | 2001 | Item not available on this server.

Characterization of the methylation-sensitive promoter of the imprinted ZAC gene supports its role in transient neonatal diabetes mellitus - A. Varrault, B. Bilanges, D.J. Mackay, E. Basyuk, B.C. Ahr, C. Fernandez, D.O. Robinson, J. Bockaert and L. Journot
Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

Does 77C?G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus? - Igor Vorechovsky, Jana Kralovicova, Elma Tchilian, Thomas Masterman, Zhiping Zhang, Berne Ferry, Siraj Misbah, Helen Chapel, David Webster, Dennis Hellgren, Maria Anvret, Jan Hillert, Lennart Hammarstrom and Peter C. Beverley
Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

A gene trap integration provides an early in situ marker for hepatic specification of the foregut endoderm - Alistair J. Watt, Elizabeth A. Jones, Jan M. Ure, Diana Peddie, David I. Wilson and Lesley M. Forrester
Type: Article | 2001 | Item not available on this server.

Chronicles of a switch hunt: gcm genes in development - Michael Wegner and Dieter Riethmacher
Type: Article | 2001 | Item not available on this server.

Fetal renal anomalies and genetic syndromes - Diana Wellesley and David T. Howe
Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

Detecting polymorphisms in MMP genes - S. Ye and A.M. Henney
Type: Article | 2001 | Item not available on this server.

An efficient procedure for genotyping single nucleotide polymorphisms - Shu Ye, Sahar Dhillon, Xiayi Ke, Andrew R. Collins and Ian N.M. Day
Type: Article | 2001 | Item not available on this server.

Invasiveness of cutaneous malignant melanoma is influenced by matrix metalloproteinase 1 gene polymorphism - Shu Ye, Sahar Dhillon, Steven J. Turner, Adrian C. Bateman, Jeffrey M. Theaker, Ruth M. Pickering, Ian Day and W. Martin Howell
Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

Spectrum of nonrandom associations between microsatellite loci on human chromosome 11p15 - Carlos Zapata, Santiago Rodriguez, Guillermo Visedo and Felipe Sacristan
Type: Article | 2001 | Item not available on this server.

Polymorphisms in matrix metalloproteinase-1, -3, -9, and -12 genes in relation to subarachnoid hemorrhage - Baiping Zhang, Sahar Dhillon, Irene Geary, W. Martin Howell, Fausto Iannotti, Ian N.M. Day and Shu Ye
Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

Type: Article | 2001 | Item not available on this server.

Combination of linkage evidence in complex inheritance - W. Zhang, A. Collins and N.E. Morton
Type: Article | 2001 | Item not available on this server.

A tournament of linkage tests in complex inheritance - W. Zhang, W. Tapper, A. Collins, K.B. Jacobs, R.C. Elston and N.E. Morton
Type: Article | 2001 | Item not available on this server.

ABL-BCR expression does not correlate with deletions on the derivative chromosome 9 or survival in chronic myeloid leukemia - Josu de la Fuente, Kirsten Merx, E. Joanna Steer, Martin Müller, Richard M. Szydlo, Ole Maywald, Ute Berger, Rüdiger Hehlmann, John M. Goldman, Nicholas C.P. Cross, Junia V. Melo and Andreas Hochhaus
Type: Article | 2001 | Item not available on this server.

This list was generated on Tue Mar 26 02:23:13 2024 GMT.
Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×