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 2006
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Number of items: 65.
Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effect - J.C.K. Barber, S. Zhang, N. Friend, A.L. Collins, V.K. Maloney, R. Hastings, B. Farren, A. Barnicoat, A.D. Polityko, N.V. Rumyantseva, H. Starke and S. Ye
Type: Article
| 2006
| Item not available on this server.
Association of asthma with a functional promoter polymorphism in the IL16 gene - Kristin M. Burkart, Sheila J. Barton, John W. Holloway, Ian A. Yang, Julie A. Cakebread, William Cruikshank, Frederic Little, Xiaoyi Jin, Lindsay A. Farrer, Joanne B. Clough, Tim P. Keith, Stephen Holgate, David M. Center and George T. O'Connor
Type: Article
| 2006
| Item not available on this server.
Genotype of galectin 2 (LGALS2) is associated with insulin-glucose profile in the British Women’s Heart and Health Study - M.B. Christensen, D.A. Lawlor, T.R. Gaunt, M.W. Howell, G. Davey Smith, S. Ebrahim and I.N.M. Day
Type: Article
| 2006
| Item not available on this server.
Cough and hypereosinophilia due to FIP1L1-PDGFRA fusion gene with tyrosine kinase activity - K. F. Chung, M. Hew, J. Score, A. V. Jones, A. Reiter, N. C. P. Cross and B. J. Bain
Type: Article
| 2006
| Item not available on this server.
Molecular investigation of a dicentric 13;17 chromosome found in a 21-week gestation fetus with multiple congenital abnormalities - A. E. Cockwell, V. K. Maloney, N. S. Thomas, E. L. Smith, P. Gonda, P. Bass and J. A. Crolla
Type: Article
| 2006
| Item not available on this server.
An investigation of FRAXA intermediate allele phenotype in a longitudinal sample - S. Ennis, A. Murray, S. Youings, G. Brightwell, D. Herrick, S. Ring, M. Pembrey, N.E. Morton and P. A. Jacobs
Type: Article
| 2006
| Item not available on this server.
Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers - Sarah Ennis, Daniel Ward and Anna Murray
Type: Article
| 2006
| Item not available on this server.
MIDAS: software for analysis and visualisation of interallelic disequilibrium between multiallelic markers - Tom R Gaunt, Santiago Rodriguez, Carloo Zapata and Ian N.M. Day
Type: Article
| 2006
Experience applying light typerTM methodology to human SNPs relevant to growth and cardiovascular risk - Tom R. Gaunt, Lesley J. Hinks, Mikkel B. Christensen, Matthew Kiessling and Ian N.M. Day
Type: Book Section
| 2006
| DNA Press
| Item not available on this server.
Distinct leukemogenic activity and imatinib responsiveness of a BCR-PFGFRalpha fusion tyrosine kinase - L. Cristina Gavrilescu, Nicholas C.P. Cross and Richard A. Van Etten
Type: Article
| 2006
| Item not available on this server.
Extended tracts of homozygosity in outbred human populations - Jane Gibson, Newton E. Morton and Andrew Collins
Type: Article
| 2006
| Item not available on this server.
Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans - Mette Gilling, Jörn S. Dullinger, Stefan Gesk, Simone Metzke-Heidemann, Reiner Siebert, Thomas Meyer, Karen Brondum-Nielsen, Niels Tommerup, Hans-Hilger Ropers, Zeynep Tümer, Vera M. Kalscheuer and N. Simon Thomas
Type: Article
| 2006
| Item availability restricted.
Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach - Anna L. Gloyn, Deborah J.G. Mackay, Michael N. Weedon, Mark I. McCarthy, Mark Walker, Graham Hitman, Bridget A. Knight, Katharine R. Owen, Andrew T. Hattersley and Timothy M. Frayling
Type: Article
| 2006
| Item not available on this server.
V1 spinal neurons regulate the speed of vertebrate locomotor outputs - S. Gosgnach, G.M. Lanuza, S.J.B. Butt, H. Saueressig, Y. Zhang, T. Velasquez, D. Riethmacher, E.M. Callaway, O. Kiehn and M. Goulding
Type: Article
| 2006
| Item not available on this server.
In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development - Masahiro Goto, Karen Piper Piper Hanley, Josep Marcos, Peter J. Wood, Sarah Wright, Anthony D. Postle, Iain T. Cameron, J. Ian Mason, David I. Wilson and Neil A. Hanley
Type: Article
| 2006
Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome - N.C.M. Hearle, M.F. Rudd, W. Lim, V. Murday, A.G. Lim, R.K. Phillips, P.W. Lee, J. O'Donohue, P.J. Morrison, A. Norman, S.V. Hodgson, A. Lucassen and R.S. Houlston
Type: Article
| 2006
| Item not available on this server.
ADAM33: a newly identified protease involved in airway remodelling - S.T. Holgate, D.E. Davies, R.M. Powell and J.W. Holloway
Type: Article
| 2006
| Item not available on this server.
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene - K.P. Hoornaert, C. Dewinter, I. Vereecke, F.A. Beemer, W. Courtens, A. Fryer, H. Fryssira, M. Lees, A. Mullner-Eidenbock, D.L. Rimoin, L. Siderius, A. Superti-Furga, K. Temple, P.J. Willems, A. Zankl, C. Zweier, A. De Paepe, P. Coucke and G.R. Mortier
Type: Article
| 2006
| Item not available on this server.
Energy metabolism of the inner cell mass and trophectoderm of the mouse blastocyst - Franchesca D. Houghton
Type: Article
| 2006
| Item not available on this server.
Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I) - Henry Houlden, Rosalind King, Julian Blake, Mike Groves, Seth Love, Cathy Woodward, Simon Hammans, James A. Nicoll, Graham Lennox, Dominic G. O'Donovan, Carolyn Gabriel, P.K. Thomas and Mary M. Reilly
Type: Article
| 2006
| Item not available on this server.
Interleukin-10 polymorphisms, cancer susceptibility and prognosis - W.M. Howell and M.J. Rose-Zerilli
Type: Article
| 2006
| Item not available on this server.
Combination of 768-well microplate array diagonal gel electrophoresis with duplex PCR of X and Y chromosome markers for quality control of epidemiological DNA banks - Shuwen Huang, Xiao-he Chen and Ian N.M. Day
Type: Article
| 2006
| Item not available on this server.
Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings - A.R. Ismail, K.L. Lachlan, A.D. Mumford, I.K. Temple and P.R. Hodgkins
Type: Article
| 2006
| Item not available on this server.
Abnormalities of 16q in multiple myeloma are associated with poor prognosis: 500K gene mapping and expression correlations identify two potential tumor suppressor genes, WWOX and CYLD - Matthew W. Jenner, Paola E. Leone, Brian A. Walker, David C. Johnson, Laura Chiecchio, Elisabet Dachs Cabanas, Gian Paolo Dagrada, Mathew Nightingale, Rebecca K.M. Protheroe, David Stockley, Monica Else, Fiona M. Ross, Nicholas C.P. Cross, Faith E. Davies and Gareth J. Morgan
Type: Article
| 2006
| Item not available on this server.
Diurnal excretion of urinary cortisol, cortisone, and cortisol metabolites in chronic fatigue syndrome - Walid K. Jerjes, Timothy J. Peters, Norman F. Taylor, Peter J. Wood, Simon Wessely and Anthony J. Cleare
Type: Article
| 2006
| Item not available on this server.
Minimal molecular response in polycythemia vera patients treated with imatinib or interferon alpha - Amy V. Jones, Richard T. Silver, Katherine Waghorn, Claire Curtis, Sebastian Kreil, Katerina Zoi, Andreas Hochhaus, David Oscier, Georgia Metzgeroth, Eva Lengfelder, Andreas Reiter, Andrew Chase and Nicholas C. Cross
Type: Article
| 2006
| Item not available on this server.
Low-dose imatinib therapy leads to rapid induction of major molecular responses with achievement of molecular remission in FIP1L1 -PDGFRA associated hypereosinophilic syndrome - J. Jovanovic, J. Score, K. Waghorn, A. Reiter, E. Gottardi, G. Saglio, J. Apperley, G. Martinelli, C. Preudhomme, R. Hehlmann, D. Grimwade and N.C.P. Cross
Type: Article
| 2006
| Item not available on this server.
A first-generation metric linkage disequilibrium map of bovine chromosome - Mehar S. Khatkar, Andrew Collins, Julie A.L. Cavanagh, Rachel J. Hawken, Matthew Hobbs, Kyall R. Zenger, Wes Barris, Alexander E. McClintock, Peter C. Thomson, Frank W. Nicholas and Herman W. Raadsma
Type: Article
| 2006
| Item not available on this server.
Abnormally small BCR-ABL transcripts in CML patients before and during imatinib treatment - Jamshid S. Khorashad, Jeffrey H. Lipton, David Marin, Dragana Milojkovic, Nicholas C.P. Cross, Nicholas Dibb, Junia V. Melo, Suzanne Kamel-Reid, John M. Goldman, Jane F. Apperley and Jaspal S. Kaeda
Type: Article
| 2006
| Item not available on this server.
Variants in the Human Insulin Gene That Affect Pre-mRNA Splicing: Is -23HphI a Functional Single Nucleotide Polymorphism at IDDM2? - Jana Kralovicova, Tom R. Gaunt, Santiago Rodriguez, Peter J. Wood, Ian N.M. Day and Igor Vorechovsky
Type: Article
| 2006
| Item not available on this server.
Position-dependent repression and promotion of DQB1 intron 3 splicing by GGGG motifs - Jana Kralovicova and Igor Vorechovsky
Type: Article
| 2006
| Item availability restricted.
Heterogeneous prognostic impact of 9q+ deletions in patients with chronic myelogenous leukemia - Sebastian Kreil, Katherine Waghorn, Markus Pfirrmann, Andreas Reiter, Rudiger Hehlmann, Andreas Hochhaus and Nicholas C.P. Cross
Type: Article
| 2006
| Item not available on this server.
A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions - K.L. Lachlan, S. Youings, T. Costa, P.A. Jacobs and N.S. Thomas
Type: Article
| 2006
| Item not available on this server.
The association of the PON1 Q192R polymorphism with complications and outcomes of pregnancy: findings from the British Women's Heart and Health cohort study - Debbie A. Lawlor, Tom R. Gaunt, Lesley J. Hinks, George Davey Smith, Nick Timpson, Ian N.M. Day and Shah Ebrahim
Type: Article
| 2006
| Item not available on this server.
The association of oestrogen receptor alpha-haplotypes with cardiovascular risk factors in the British Women's Heart and Health Study - Debbie A. Lawlor, Nick Timpson, Shah Ebrahim, Ian N.M. Day and George Davey Smith
Type: Article
| 2006
| Item not available on this server.
The thermolabile variant of MTHFR is associated with depression in the British Women's Heart and Health Study and a meta-analysis - S.J. Lewis, D.A. Lawlor, G. Davey Smith, R. Araya, N. Timpson, I.N.M. Day and S. Ebrahim
Type: Article
| 2006
| Item not available on this server.
Reduced secretion of fibulin 5 in age related macular degeneration and cutis laxa - Andrew J. Lotery, Dominique Baas, Caroline Ridley, Richard P.O. Jones, Caroline C.W. Klaver, Edwin Stone, Tomoyuki Nakamura, Andrew Luff, Helen Griffiths, Tao Wang, Arthur A.B. Bergen and Dorothy Trump
Type: Article
| 2006
| Item not available on this server.
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus - D.J.G. Mackay, S.E. Boonen, J. Clayton-Smith, J. Goodship, J.M.D. Hahnemann, S.G. Kant, P.R. Njølstad, N.H. Robin, D.O. Robinson, R. Siebert, J.P.H. Shield, H.E. White and I.K. Temple
Type: Article
| 2006
| Item not available on this server.
Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus - D.J.G. Mackay, J.M.D. Hahnemann, S.E. Boonen, S. Poerksen, D.J. Bunyan, H.E. White, V.J. Durston, N.S. Thomas, D.O. Robinson, J.P.H. Shield, J. Clayton-Smith and I.K. Temple
Type: Article
| 2006
| Item not available on this server.
Ca2+ -linked upregulation and mitochondrial production of nitric oxide in the mouse preimplantation embryo - Rosemary C. Manser and Franchesca D. Houghton
Type: Article
| 2006
| Item not available on this server.
Free radical scavenging inhibits STAT phosphorylation following in vivo ischemia/reperfusion injury - James McCormick, Sean P. Barry, Ahila Sivarajah, Giorgio Stefanutti, Paul A. Townsend, Kevin M. Lawrence, Simon Eaton, Richard A. Knight, Christoph Thiemermann, David S. Latchman and Anastasis Stephanou
Type: Article
| 2006
| Item not available on this server.
Fifty years of genetic epidemiology, with special reference to Japan - Newton E. Morton
Type: Article
| 2006
| Item not available on this server.
Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonization - M. Raponi, M. Upadhyaya and D. Baralle
Type: Article
| 2006
| Item not available on this server.
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles - Anthony Renwick, Deborah Thompson, Sheila Seal, Patrick Kelly, Tasnim Chagtai, Munaza Ahmed, Bernard North, Hiran Jayatilake, Rita Barfoot, Katarina Spanova, Lesley McGuffog, D. Gareth Evans, Diana Eccles, Douglas F. Easton, Michael R. Stratton and Nazneen Rahman
Type: Article
| 2006
| Item not available on this server.
Efficient transfer of HSV-1 amplicon vectors into embryonic stem cells and their derivatives - Dieter Riethmacher, Filip Lim and Thomas Schimmang
Type: Article
| 2006
| Item not available on this server.
A highly complex rea(2;3;11) and aniridia by position effect - H. Rivera, M.L. Yala-Madrigal, J.P. Barros-Nunez, L. Rnaud-Lopez, V. Maloney and J.A. Crolla
Type: Article
| 2006
| Item not available on this server.
A study of TH01 and IGF2-INS-TH haplotypes in relation to smoking initiation in three independent surveys - Santiago Rodriguez, Shuwen Huang, Xiao-he Chen, Tom R. Gaunt, Holly E. Syddall, Julie A. Gilg, George J. Miller, Cyrus C. Cooper, Derek G. Cook, Peter H. Whincup and Ian N.M. Day
Type: Article
| 2006
| Item not available on this server.
Identification of a novel imatinib responsive KIF5B-PDGFRA fusion gene following screening for PDGFRA overexpression in patients with hypereosinophilia - J. Score, C. Curtis, K. Waghorn, M. Stalder, M. Jotterand, F.H. Grand and N.C. Cross
Type: Article
| 2006
| Item not available on this server.
Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3 - James Edward Self, Sarah Ennis, Andrew Collins, Fatima Shawkat, Christopher Mark Harris, David Anthony Mackey, Peter Robert Hodgkins, Isabelle Karen Temple, Xiaoli Chen and Andrew John Lotery
Type: Article
| 2006
| Item not available on this server.
Letter. Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies - Susan Service, Joseph DeYoung, Maria Karayiorgou, J. Louw Roos, Herman Pretorious, Gabriel Bedoya, Jorge Ospina, Andres Ruiz-Linares, António Macedo, Joana Almeida Palha, Peter Heutink, Yurii Aulchenko, Ben Oostra, Cornelia van Duijn, Marjo-Riitta Jarvelin, Teppo Varilo, Lynette Peddle, Proton Rahman, Giovanna Piras, Maria Monne, Sarah Murray, Luana Galver, Leena Peltonen, Chiara Sabatti, Andrew Collins and Nelson Freimer
Type: Article
| 2006
| Item not available on this server.
Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11 - N. Simon Thomas, Miranda Durkie, Gemma Potts, Richard Sandford, Berendine Van Zyl, Sheila Youings, Nicholas R. Dennis and Patricia A. Jacobs
Type: Article
| 2006
| Item not available on this server.
Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man - N. Simon Thomas, Miranda Durkie, Berendine Van Zyl, Richard Sanford, Gemma Potts, Sheila Youings, Nicholas Dennis and Patricia Jacobs
Type: Article
| 2006
| Item not available on this server.
Ocular findings in Gillespie-like syndrome: Association with a new PAX6 mutation - Benjamin H. Ticho, Clair Hilchie-Schmidt, Robert T. Egel, Elias I. Traboulsi, Rachel J. Howarth and David Robinson
Type: Article
| 2006
| Item not available on this server.
Mid-trimester hyperechogenic bowel in a fetus of Japanese origin: caution in interpreting reported CFTR mutation (L548Q) - C.L.S. Turner, A.C. Skinner, B.M. Castle and D.G. Wellesley
Type: Article
| 2006
| Item not available on this server.
Evaluating human embryonic germ cells: concord and conflict as pluripotent stem cells - Lee W. Turnpenny, Cosma M. Spalluto, Rebecca M. Perrett, Marie O'Shea, Karen Piper Hanley, Iain T. Cameron, David I. Wilson and Neil A. Hanley
Type: Article
| 2006
| Item not available on this server.
Urocortin inhibits Beclin1-mediated autophagic cell death in cardiac myocytes exposed to ischaemia/reperfusion injury - Lauren Valentim, Kevin M. Laurence, Paul A. Townsend, Christopher J. Carroll, Surinder Soond, Tiziano M. Scarabelli, Richard A. Knight, David S. Latchman and Anastasis Stephanou
Type: Article
| 2006
| Item not available on this server.
JAK2 V617F mutation in classic chronic myeloproliferative diseases: a report on a series of 349 patients - J.L. Vizmanos, C. Ormazábal, M.J. Larráyoz, N.C.P. Cross and M.J. Calasanz
Type: Article
| 2006
| Item not available on this server.
Integration of global SNP-based mapping and expression arrays reveals key regions, mechanisms and genes important in the pathogenesis of multiple myeloma - Brian A. Walker, Paola E. Leone, Matthew W. Jenner, Cheng Li, David Gonzalez, David C. Johnson, Fiona M. Ross, Faith E. Davies and Gareth J. Morgan
Type: Article
| 2006
| Item not available on this server.
Characterization of two new imatinib-responsive fusion genes generated by disruption of PDGFRB in eosinophilia-associated chronic myeloproliferative disorders - Christoph Walz, Georgia Metzgeroth, Claudia Schoch, Torsten Haferlach, Rudiger Hehlmann, Andreas Hochhaus, Nicholas C.P. Cross and Andreas Reiter
Type: Article
| 2006
| Item not available on this server.
NGRL (Wessex) evaluation of CE marked in vitro diagnostic test kits for prenatal diagnosis of aneuploidy - H. White, V.J. Hall, T. Boyle, J. Warner, J. McLuskey, J. Sibbring, S. Hamilton, J. Diack, S. Allen, M. Jones and N.C.P. Cross
Type: Article
| 2006
| Item not available on this server.
Quantitative analysis of SNRPN [correction of SRNPN] gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome - Helen E. White, Victoria J. Durston, John F. Harvey and Nicholas C. Cross
Type: Article
| 2006
| Item not available on this server.
The role of Toll-like receptors and related receptors of the innate immune system in asthma - I.A. Yang, K.M. Fong, S.T. Holgate and J.W. Holloway
Type: Article
| 2006
| Item not available on this server.
Influence of matrix metalloproteinase genotype on cardiovascular disease susceptibility and outcome - Shu Ye
Type: Article
| 2006
| Item not available on this server.
A novel K509I mutation of KIT identified in familial mastocytosis—in vitro and in vivo responsiveness to imatinib therapy - Ling Yan Zhang, Matthew L. Smith, Beate Schultheis, Jude Fitzgibbon, T. Andrew Lister, Junia V. Melo, Nicholas C.P. Cross and Jamie D. Cavenagh
Type: Article
| 2006
| Item not available on this server.
[Application of denaturing high performance liquid chromatography to mutation detection of the c-kit gene in mastocytosis] - Ling-Yan Zhang, Gong-Li Xu and Nicholas C.P. Cross
Type: Article
| 2006
| Item not available on this server.