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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 2002

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Number of items: 83.

Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta - Jane F. Apperley, Martine Gardembas, Junia V. Melo, Robin Russell-Jones, Barbara J. Bain, E. Joanna Baxter, Andrew Chase, Judith M. Chessells, Marie Colombat, Claire E. Dearden, Sandra Dimitrijevic, Francois X. Mahon, David Marin, Zariana Nikolova, Eduardo Olavarria, Sandra Silberman, Beate Schultheis, Nicholas C.P. Cross and John M. Goldman
Type: Article | 2002 | Item availability restricted.

Type: Article | 2002 | Item not available on this server.

Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus - Kati Asumalahti, Colin Veal, Tarja Laitinen, Sari Suomela, Michael Allen, Outi Elomaa, Michael Moser, Rafael De Cid, Samuli Ripatti, Igor Vorechovsky, Jan A. Marcusson, Hidemi Nakagawa, Conxi Lazaro, Xavier Estivill, Francesca Capon, Giuseppe Novelli, Ulpu Saarialho-Kere, Jonathan Barker, Richard Trembath and Juha Kere
Type: Article | 2002 | Item not available on this server.

The role of hemochromatosis susceptibility gene mutations in protecting against iron deficiency in celiac disease - Jeffrey R. Butterworth, Brian T. Cooper, William M. Rosenberg, Michael Purkiss, Shirley Jobson, Mark Hathaway, David Briggs, W. Martin Howell, Gordon M. Wood, David H. Adams and Tariq H. Iqbal
Type: Article | 2002 | Item not available on this server.

Gene polymorphisms, inflammatory diseases and cancer - P. C. Calder, R. F. Grimble and W. M. Howell
Type: Review | 2002 | Item not available on this server.

Genetic abnormalities detected in ependymomas by comparative genomic hybridisation - M. Carter, J. Nicholson, F. Ross, J. Crolla, R. Allibone, V. Balaji, R. Perry, D. Walker, R. Gilbertson and D. W. Ellison
Type: Article | 2002 | Item not available on this server.

Genetics update of macular diseases - M. Chung and A. J. Lotery
Type: Article | 2002 | Item not available on this server.

Type: Article | 2002 | Item availability restricted.

Letter. Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms - Moira Crosier, Luigi Viggiano, Jane Guy, Doriana Misceo, Robert Stones, Wenbin Wei, Tom Hearn, Mario Ventura, Nicoletta Archidiacono, Mariano Rocchi and Michael S. Jackson
Type: Article | 2002 | Item not available on this server.

Type: Article | 2002 | Item not available on this server.

Electrophoresis in microplate formats - I.N.M. Day, M.A. Al-Dahmesh, K.K. Alharbi, X. Chen, R.H. Ganderton, T.R. Gaunt, L.J. Hinks, S.D. O'Dell, E. Spanakis, P.J.R. Day, M.A. Suchard, B.B. Zhang and M.R. James
Type: Book Section | 2002 | Garland Science | Item not available on this server.

Insulin-like growth factor-I genotype and birthweight - Ian N.M. Day, Tabitha H.T. King, Xiao-he Chen, Anca M. Voropanov, Shu Ye, Holly E. Syddall, Avan Aihie Sayer, Cyrus Cooper, David J. Barker and David I.W. Phillips
Type: Article | 2002 | Item not available on this server.

Phylogeny of fragile X haplotypes from an English population. - Sarah Ennis, G. Brightwell, Andrew Collins, Patricia Jacobs and Newton Ennis Morton
Type: Article | 2002 | Item not available on this server.

Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE) - L.D. Fairbanks, A.M. Marinaki, E.A. Carrey, S.R. Hammans and J.A. Duley
Type: Article | 2002 | Item not available on this server.

Safety and efficacy of STI-571 (imatinib mesylate) in patients with bcr/abl-positive chronic myelogenous leukemia (CML) after autologous peripheral blood stem cell transplantation (PBSCT) - T. Fischer, C. Reifenrath, G. R. Hess, M. T. Corsetti, S. Kreil, J. Beck, P. Meinhardt, G. Beltrami, B. Schuch, H. Gschaidmeier, R. Hehlmann, A. Hochhaus, A. Carella and C. Huber
Type: Article | 2002 | Item not available on this server.

Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation - Andrew M. Fisher, Simon N. Thomas, Annette Cockwell, Olga Stecko, Bronwyn Kerr, Karen I. Temple and Peter Clayton
Type: Article | 2002 | Item not available on this server.

Complex segregation analysis of hypospadias - Louise Fredell, Lennart Iselius, Andy Collins, Einar Hansson, Staffan Holmner, Lars Lundquist, Göran Läckgren, Jörgen Pedersen, Arne Stenberg, Gunnar Westbacke and Agneta Nordenskjöld
Type: Article | 2002 | Item not available on this server.

Letter to the editor: Observation. Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes - A.L. Gloyn, S. Ellard, J.P. Shield, I.K. Temple, D.J. Mackay, M. Polak, T. Barrett and A.T. Hattersley
Type: Article | 2002 | Item not available on this server.

Steroidogenic enzyme expression within the adrenal cortex during early human gestation - M. Goto, S. Brickwood, D.I. Wilson, P.J. Wood, J.I. Mason and N.A. Hanley
Type: Article | 2002 | Item not available on this server.

The ability of fish oil to suppress tumor necrosis factor alpha production by peripheral blood mononuclear cells in healthy men is associated with polymorphisms in genes that influence tumor necrosis factor alpha production - Robert F. Grimble, W. Martin Howell, Gillian O’Reilly, Stephen J. Turner, Olivera Markovic, Sharon Hirrell, J. Malcolm East and Philip C. Calder
Type: Article | 2002 | Item availability restricted.

Evidence of multiple causal sites affecting weight in the IGF2-INS-TH region of human chromosome 11 - Dongfeng Gu, Sandra D. O'Dell, Xiao-he Chen, George J. Miller and Ian N. Day
Type: Article | 2002 | Item not available on this server.

ST1571 (Imatinib Mesylate) reduces bone marrow cellularity and normalizes morphologic features irrespective of cytogenetic response - Robert P. Hasserjian, Federica Boecklin, Sally Parker, Andy Chase, Sunanda Dhar, M. Zaiac, Eduardo Olavarria, Irvin Lampert, Kristin Henry, Jane F. Apperley and J. M. Goldman
Type: Article | 2002 | Item not available on this server.

Letter. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome - Tom Hearn, Glenn L. Renforth, Cosma Spalluto, Neil A. Hanley, Karen Piper, Sarah Brickwood, Chris White, Vincent Connolly, James F.N. Taylor, Isabelle Russell-Eggitt, Dominique Bonneau, Mark Walker and David I. Wilson
Type: Article | 2002 | Item not available on this server.

Aktuelle Therapiekonzepte bei chronischer myeloischer Leukämie Die Studie IV der Deutschen CML-Studiengruppe - A. Hochhaus, U. Berger, A. Reiter, G. Engelich, T. Lahaye, S. Kreil, K. Merx, M.C. Müller and R. Hehlmann
Type: Article | 2002 | Item not available on this server.

Drug therapy of chronic myeloid leukemia - A. Hochhaus, U. Berger, A. Reiter, T. Lahaye, S. Kreil and R. Hehlmann
Type: Article | 2002 | Item not available on this server.

Molecular and chromosomal mechanisms of resistance to imatinib (STI571) therapy - A. Hochhaus, S. Kreil, A. S. Corbin, P. La Rosee, M. C. Muller, T. Lahaye, B. Hanfstein, C. Schoch, N. C. Cross, U. Berger, H. Gschaidmeier, B. J. Druker and R. Hehlmann
Type: Article | 2002 | Item not available on this server.

Age-associated changes in methylation of the insulin-like growth factor II (IGF-II) gene - Elizabeth G. Hoffman, Ian N. M. Day and Rosalind H. Ganderton
Type: Article | 2002 | Item not available on this server.

Type: Article | 2002

Functional significance of gap junctional coupling in preimplantation development - F.D. Houghton, K.J. Barr, G. Walter, H.D. Gabriel, R. Grummer, O. Traub, H J. Leese, E. Winterhager and G.M. Kidder
Type: Article | 2002 | Item not available on this server.

Non-invasive amino acid turnover predicts human embryo developmental capacity - Franchesca D. Houghton, Judith A. Hawkhead, Peter G. Humpherson, Jan E. Hogg, Adam H. Balen, Anthony J. Rutherford and Henry J. Leese
Type: Article | 2002 | Item not available on this server.

Type: Article | 2002 | Item not available on this server.

Reduced soluble CD14 levels in amniotic fluid and breast milk are associated with the subsequent development of atopy, eczema, or both - C.A. Jones, J.A. Holloway, E.J. Popplewell, N.D. Diaper, J.W. Holloway, G.H.S. Vance, J.A. Warner and J.O. Warner
Type: Article | 2002 | Item not available on this server.

Hepatic differentiation of murine embryonic stem cells - Elizabeth A. Jones, David Tosh, David I. Wilson, Susan Lindsay and Lesley M. Forrester
Type: Article | 2002 | Item not available on this server.

An 11p;17p telomeric translocation in two families associated with recurrent miscarriages and Miller-Dieker syndrome - Christine A. Joyce, Nicholas R. Dennis, Francis Howard, Louisa M. Davis and N. Simon Thomas
Type: Article | 2002 | Item availability restricted.

Size at birth, gestational age and cortisol secretion in adult life: foetal programming of both hyper- and hypocortisolism? - Eero Kajantie, David I.W. Phillips, Sture Andersson, David J.P. Barker, Leo Dunkel, Tom Forsen, Clive Osmond, Juha Tuominen, Peter J. Wood and Johan Eriksson
Type: Article | 2002 | Item not available on this server.

The distinguishing sequence characteristics of mouse imprinted genes - Xiayi Ke, N. Simon Thomas, David O. Robinson and Andrew Collins
Type: Article | 2002 | Item not available on this server.

Type: Article | 2002 | Item not available on this server.

Type: Article | 2002 | Item not available on this server.

Electroretinographic abnormalities in parents of patients with Leber Congenital Amaurosis who have Heterozygous GUCY2D mutations - Robert K. Koenekoop, Gerald A. Fishman, Alessandro Iannaccone, Hany Ezzeldin, Maria L. Ciccarelli, Alfonso Baldi, Janet S. Sunness, Andrew J. Lotery, Monica M. Jablonski, Steven J. Pittler and Irene Maumenee
Type: Article | 2002 | Item not available on this server.

The HLA-DRA*0102 allele: correct nucleotide sequence and associated HLA haplotypes - J. Kralovicova, S. G. Marsh, M. J. Waller, L. Hammarstrom and I. Vorechovsky
Type: Article | 2002 | Item not available on this server.

K(ATP) channel gene expression is induced by urocortin and mediates its cardioprotective effect - K. M. Lawrence, A. Chanalaris, T. Scarabelli, M. Hubank, E. Pasini, P. A. Townsend, L. Comini, R. Ferrari, A. Tinker, A. Stephanou, R. A. Knight and D. S. Latchman
Type: Article | 2002 | Item not available on this server.

Type: Article | 2002 | Item not available on this server.

Re: Dominant negative ATM mutations in breast cancer families - Haixin Lei, Daria Pospisilova, Annika Lindblom and Igor Vorechovsky
Type: Article | 2002 | Item not available on this server.

Cooperative effects of Th2 cytokines and allergen on normal and asthmatic bronchial epithelial cells - James L. Lordan, Fabio Bucchieri, Audrey Richter, Athanassias Konstantinidis, John W. Holloway, Matthew Thornber, Sarah M. Puddicombe, Diana Buchanan, Susan J. Wilson, Ratko Djukanović, Stephen T. Holgate and Donna E. Davies
Type: Article | 2002 | Item not available on this server.

Gene transfer to the nonhuman primate retina with recombinant feline immunodeficiency virus vectors - Andrew J. Lotery, Todd A. Derksen, Stephen R. Russell, Robert F. Mullins, Sybille Sauter, Louisa M. Affatigato, Edwin M. Stone and Beverly L. Davidson
Type: Article | 2002 | Item not available on this server.

No mutations in the BACH1 gene in BRCA1 and BRCA2 negative breast-cancer families linked to 17q22 - L. Luo, H. Lei, Q. Du, A. Von Wachenfeldt, I. Kockum, H. Luthman, I. Vorechovsky and A. Lindblom
Type: Article | 2002 | Item not available on this server.

Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus - D.J.G. Mackay, A.M. Coupe, J.P.H. Shield, J.N.P. Storr, I.K. Temple and D.O. Robinson
Type: Article | 2002 | Item not available on this server.

The first linkage disequilibrium (LD) maps: delineation of hot and cold blocks by diplotype analysis - N. Maniatis, A. Collins, C.-F. Xu, L.C. McCarthy, D.R. Hewett, W. Tapper, S. Ennis, X. Ke and N.E. Morton
Type: Article | 2002 | Item not available on this server.

A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation - Tristan W. McMullan, John A. Crolla, Simon G. Gregory, Nigel P. Carter, Rachel A. Cooper, Gareth R. Howell and David O. Robinson
Type: Article | 2002 | Item not available on this server.

Early reduction of BCR-ABL mRNA transcript levels predicts cytogenetic response in chronic phase CML patients treated with imatinib after failure of interferon alpha - K. Merx, M. C. Muller, S. Kreil, T. Lahaye, P. Paschka, C. Schoch, A. Weisser, C. Kuhn, U. Berger, H. Gschaidmeier, R. Hehlmann and A. Hochhaus
Type: Article | 2002 | Item not available on this server.

The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin - David Morgan, Judith Goodship, Jeffrey J. Essner, Kyle J. Vogan, Lee Turnpenny, Joseph H. Yost, Clifford J. Tabin and Tom Strachan
Type: Article | 2002 | Item not available on this server.

Toward positional cloning with SNPs - N.E. Morton and A. Collins
Type: Article | 2002 | Item not available on this server.

Improvement of molecular monitoring of residual disease in leukemias by bedside RNA stabilization - M. C. Muller, K. Merx, A. Weisser, S. Kreil, T. Lahaye, R. Hehlmann and A. Hochhaus
Type: Article | 2002 | Item not available on this server.

Null mutation in human ciliary neurotrophic factor gene confers higher body mass index in males - Sandra D. O'Dell, Holly E. Syddall, Avan Aihie Sayer, Cyrus Cooper, Caroline H.D. Fall, Elaine M. Dennison, David I.W. Phillips, Tom R. Gaunt, Patricia J. Briggs and Ian N.M. Day
Type: Article | 2002 | Item not available on this server.

Forward transport: 14-3-3 binding overcomes retention in endoplasmic reticulum by dibasic signals - Ita O'kelly, Margaret Butler, Noam Zilberberg and Steve A.N. Goldstein
Type: Article | 2002 | Item not available on this server.

Steroidogenic factor 1: an essential mediator of endocrine development - Keith L. Parker, Douglas A. Rice, Deepak S. Lala, Yayoi Ikeda, Xunrong Luo, Margaret Wong, Marit Bakke, Liping Zhao, Claudia Frigeri, Neil A. Hanley, Nancy Stallings and Bernard P. Schimmer
Type: Article | 2002 | Item not available on this server.

Genetic analysis of multicase families of visceral leishmaniasis in northeastern Brazil: no major role for class II or class III regions of HLA - C.S. Peacock, C.B. Sanjeevi, M.-A. Shaw, A. Collins, R.D. Campbell, R. March, F. Silveira, J. Costa, C.H. Coste, M.D. Nascimento, R. Siddiqui, J.J. Shaw and J.M. Blackwell
Type: Article | 2002 | Item not available on this server.

Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis - H.M. Phillips, G.L. Renforth, C. Spalluto, T. Hearn, A.R. Curtis, L. Craven, B. Havarani, M. Clement-Jones, C. English, O. Stumper, T. Salmon, S. Hutchinson, M.S. Jackson and D.I. Wilson
Type: Article | 2002 | Item not available on this server.

Novel SOX9 expression during human pancreas development correlates to abnormalities in Campomelic dysplasia - K. Piper, S.G. Ball, J.W. Keeling, S. Mansoor, D.I. Wilson and N.A. Hanley
Type: Article | 2002 | Item not available on this server.

Type: Article | 2002 | Item not available on this server.

Identification of protein tyrosine phosphatase 1B and casein as substrates for 124-v-Mos - Tassula Proikas-Cezanne, Silvia Stabel and Dieter Riethmacher
Type: Article | 2002 | Item not available on this server.

Characterisation of interstitial duplications and triplications of chromosome 15q11-q13 - Sian E. Roberts, Nicholas R. Dennis, Caroline E. Browne, Lionel Willatt, Geoffrey C. Woods, Ian Cross, Patricia A. Jacobs and Simon N. Thomas
Type: Article | 2002 | Item not available on this server.

Type: Article | 2002 | Item not available on this server.

Stem cell myeloproliferative disease and T-lymphoma induced in mice by the ZNF198-FGFR1 fusion gene of human 8p11 myeloproliferative syndrome - S. Roumiantsev, D.S. Krause, C.A. Neumann, C. Dimitri, F. Asiedu, G.Q. Daley, N.C.P. Cross and R.A. Van Etten
Type: Article | 2002 | Item not available on this server.

Polymorphism of the IGF2 gene, birth weight and grip strength in adult men - A.A. Sayer, H. Syddall, S.D. O'Dell, X.H. Chen, P.J. Briggs, R. Briggs, I.N. Day and C. Cooper
Type: Article | 2002 | Item not available on this server.

Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease) - Gail M. Seigel, Andrew Lotery, Ari Kummer, David J. Bernard, Nicholas D.E. Greene, Mark Turmaine, Todd Derksen, Robert L. Nussbaum, Beverly Davidson, Janet Wagner and Hannah Mitchison
Type: Article | 2002 | Item not available on this server.

LINE repeats are associated with the spread of X inactivation - A. Sharp, William Tapper, P. Strike, D. Robinson and P. Jacobs
Type: Article | 2002 | Item not available on this server.

Molecular and cytogenetic analysis of the spreading of X inactivation in X;autosome translocations - A.J. Sharp, H.T. Spotswood, D.O. Robinson, B.M. Turner and P.A. Jacobs
Type: Article | 2002 | Item not available on this server.

Neonatal diabetes mellitus - J.P.H. Shield and I.K. Temple
Type: Article | 2002 | Item not available on this server.

Total cortisol levels are reduced in the periovulatory follicle of infertile women with minimal-mild endometriosis - M.P. Smith, S.D. Keay, F.C. Margo, C.R. Harlow, P.J. Wood, D.J. Cahill and M.G. Hull
Type: Article | 2002 | Item not available on this server.

Development of a transgenic green fluorescent protein lineage marker for steroidogenic factor 1 - Nancy R. Stallings, Neil A. Hanley, Gregor Majdic, Liping Zhao, Marit Bakke and Keith L. Parker
Type: Article | 2002 | Item not available on this server.

The carboxyl-terminal activation domain of the STAT-1 transcription factor enhances ischemia/reperfusion-induced apoptosis in cardiac myocytes - Anastasis Stephanou, Tiziano M. Scarabelli, Paul A. Townsend, Robert Bell, Derek Yellon, Richard A. Knight and David S. Latchman
Type: Article | 2002 | Item not available on this server.

Terminal differentiation of myelin-forming oligodendrocytes depends on the transcription factor Sox10 - C. Claus Stolt, Stephan Rehberg, Marius Ader, Petra Lommes, Dieter Riethmacher, Melitta Schachner, Udo Bartsch and Michael Wegner
Type: Article | 2002 | Item not available on this server.

Type: Article | 2002 | Item not available on this server.

Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness - Paul Van Eerdewegh, Randall D. Little, Josée Dupuis, Richard G. Del Mastro, Kathy Falls, Jason Simon, Dana Torrey, Sunil Pandit, Joyce McKenny, Karen Braunschweiger, Alison Walsh, Ziying Liu, Brooke Hayward, Colleen Folz, Susan P. Manning, Alicia Bawa, Lisa Saracino, Michelle Thackston, Youssef Benchekroun, Neva Capparell, Mei Wang, Ron Adair, Yun Feng, JoAnn Dubois, Michael G. FitzGerald, Hui Huang, René Gibson, Kristina M. Allen, Alex Pedan, Melvyn R. Danzig, Shelby P. Umland, Robert W. Egan, Francis M. Cuss, Steuart Rorke, Joanne B. Clough, John W. Holloway, Stephen T. Holgate and Tim P. Keith
Type: Article | 2002 | Item not available on this server.

Type: Article | 2002 | Item not available on this server.

Factors affecting duration of survival after onset of blastic transformation of chronic myeloid leukemia - J. Wadhwa, R. M. Szydlo, J. F. Apperley, A. Chase, M. Bua, D. Marin, E. Olavarria, E. Kanfer and J. M. Goldman
Type: Article | 2002 | Item not available on this server.

Solid-phase extraction in clinical biochemistry - Valerie Walker and Graham A. Mills
Type: Article | 2002 | Item not available on this server.

Quality of life after repair of tetralogy of Fallot - W.T. Walker, I.K. Temple, J.P. Gnanapragasam, J.R. Goddard and E.M. Brown
Type: Article | 2002 | Item not available on this server.

Type: Article | 2002 | Item not available on this server.

Mapping quantitative effects of oligogenes by allelic association - W. Zhang, A. Collins, G.R. Abecasis, L.R. Cardon and N.E. Morton
Type: Article | 2002 | Item not available on this server.

Type: Article | 2002 | Item not available on this server.

Properties of linkage disequilibrium (LD) maps - Weilhua Zhang, Andrew Collins, Nikolas Maniatis, William Tapper and Newton E. Morton
Type: Article | 2002 | Item not available on this server.

This list was generated on Tue Mar 26 02:23:08 2024 GMT.
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