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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 2004

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Number of items: 75.

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes - M.A. Aldred, R.O. Sanford, N.S. Thomas, M.A. Barrow, L.C. Wilson, L.A. Brueton, M.C. Bonaglia, R.C. Hennekam, C. Eng, N.R. Dennis and R.C. Trembath
Type: Article | 2004 | Item not available on this server.

Type: Article | 2004 | Item not available on this server.

MNGIE neuropathy: five cases mimicking chronic inflammatory demyelinating polyneuropathy - Richard S. Bedlack, Tuan Vu, Simon Hammans, Steven A. Sparr, Bennett Myers, Joel Morgenlander and Michio Hirano
Type: Article | 2004 | Item not available on this server.

Lack of association of HLA class I genes and TNFα-308 polymorphism in toluene diisocyanate-induced asthma - B. Beghé, M. Padoan, C.T. Moss, S.J. Barton, J.W. Holloway, S.T. Holgate, W.M. Howell and C.E. Mapp
Type: Article | 2004 | Item not available on this server.

Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders - Patrick F. Bolton, Marijcke W.M. Veltman, Emma Weisblatt, Joanne R. Holmes, Simon N. Thomas, Sheila A. Youings, Russell J. Thompson, Sian E. Roberts, Nicolas R. Dennis, Caroline E. Browne, Sally Goodson, Vanessa Moore and Josie Brown
Type: Article | 2004 | Item not available on this server.

Cell depletion due to diphtheria toxin fragment A after Cre-mediated recombination - D. Brockschnieder, C. Lappe-Siefke, S. Goebbels, M.R. Boesl, K.A. Nave and D. Riethmacher
Type: Article | 2004 | Item not available on this server.

Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification - D.J. Bunyan, D.M. Eccles, J. Sillibourne, E. Wilkins, N. Simon Thomas, J. Shea-Simonds, P.J. Duncan, C.E. Curtis, D.O. Robinson, J.F. Harvey and N.C.P. Cross
Type: Article | 2004 | Item not available on this server.

hnRNP H binding at the 5' splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genes - E. Buratti, M. Baralle, L. De Conti, D. Baralle, M. Romano, Y.M. Ayala and F.E. Baralle
Type: Article | 2004 | Item not available on this server.

The role of ADAM33 in the pathogenesis of asthma - Julie A. Cakebread, H.-M. Haitchi, John W. Holloway, Robert M. Powell, Tim Keith, Donna E. Davies and Stephen T. Holgate
Type: Article | 2004 | Item not available on this server.

Evidence of admixture from haplotyping in an epidemiological study of UK Caucasian males: implications for association analyses - X.H. Chen, S. Rodriguez, E. Hawe, P.J. Talmud, G.J. Miller, P. Underhill, S.E. Humphries and I.N. Day
Type: Article | 2004 | Item not available on this server.

Mapping genes for common diseases: the case for genetic (LD) maps - Andrew Collins, Winston Lau and Francisco De La Vega
Type: Article | 2004 | Item not available on this server.

Type: Article | 2004 | Item not available on this server.

Type: Article | 2004 | Item not available on this server.

Fusion of SFPQ to ABL in a patient with a T(1;9)(p34;q34) and acute lymphocytic leukemia - N. C. P. Cross, Andrew J. Chase, Milton Drachenberg, W. Mark Roberts, Jerry Z. Finklestein and Francis H. Grand
Type: Article | 2004 | Item not available on this server.

Polymorphism in the growth hormone gene, weight in infancy, and adult bone mass - E.M. Dennison, H.E. Syddall, S. Rodriguez, A. Voropanov, I.N.M. Day and C. Cooper
Type: Article | 2004 | Item not available on this server.

A perspective on inversin - Lorraine Eley, Lee Turnpenny, Laura M. Yates, A. Scott Craighead, David Morgan, Catherine Whistler, Judith A. Goodship and Tom Strachan
Type: Article | 2004 | Item not available on this server.

Human evidence that the Cystatin C Gene is implicated in focal progression of Coronary Artery Disease - Per Eriksson, Hiroyuki Deguchi, Ann Samnegard, Pia Lundman, Susanna Boquist, Per Tornvall, Carl-Goran Ericsson, Lott Bergstrand, Lars-Olof Hansson, Shu Ye and Anders Hamsten
Type: Article | 2004 | Item not available on this server.

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 - Anna L. Gloyn, Elizabeth A. Cummings, Emma L. Edghill, Lorna W. Harries, Rachel Scott, Teresa Costa, I. Karen Temple, Andrew T. Hattersley and Sian Ellard
Type: Article | 2004 | Item not available on this server.

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes - Anna L. Gloyn, Ewan R. Pearson, Jennifer F. Antcliff, Peter Proks, Jan Bruining, Annabelle S. Slingerland, Neville Howard, Shubha Srinivasan, José M.C.L. Silva, Janne Molnes, Emma L. Edghill, Timothy M. Frayling, I. Karen Temple, Deborah Mackay, Julain P.H. Shield, Zdenek Sumnik, Adrian Van Rhijn, J.erry K.H. Wales, Penelope Clark, Shaun Gorman, Javier Aisenberg, Sian Ellard, Pal R. Njolstad, Frances M. Ashcroft and Andrew T. Hattersley
Type: Article | 2004 | Item availability restricted.

Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12) - Leena Gole, John A. Crolla, Simon N. Thomas, Patricia A. Jacobs and Nicholas R. Dennis
Type: Article | 2004 | Item not available on this server.

Targeting FGFR3 in multiple myeloma: inhibition of t(4;14)-positive cells by SU5402 and PD173074 - E. K. Grand, A. J. Chase, C. Heath, A. Rahemtulla and N. C. Cross
Type: Article | 2004 | Item not available on this server.

Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome - Effie K. Grand, Francis H. Grand, Andrew J. Chase, Fiona M. Ross, Martin M. Corcoran, David G. Oscier and Nicholas C.P. Cross
Type: Article | 2004 | Item not available on this server.

p53-binding protein 1 is fused to the platelet-derived growth factor receptor ? in a patient with a t(5;15)(q33;q22) and an imatinib-responsive eosinophilic myeloproliferative disorder - Francis H. Grand, Sonja Burgstaller, Thomas Kuhr, E. Joanna Baxter, Gerald Webersinke, Josef Thaler, Andrew J. Chase and Nicholas C.P. Cross
Type: Article | 2004 | Item availability restricted.

Comparative expressed sequence hybridization studies of high-hyperdiploid childhood acute lymphoblastic leukemia - Alicja M. Gruszka-Westwood, Sharon W. Horsley, Angel Martinez-Ramirez, Christine J. Harrison, Helena Kempski, Anthony V. Moorman, Fiona M. Ross, Michael Griffiths, Mel F. Greaves and Lyndal Kearney
Type: Article | 2004 | Item not available on this server.

3D analysis of facial morphology - Peter Hammond, Tim J. Hutton, Judith E. Allanson, Linda E. Campbell, Raoul C.M. Hennekam, Sean Holden, Michael A. Patton, Adam Shaw, I. Karen Temple, Matthew Trotter, Kieran C. Murphy and Robin M. Winter
Type: Article | 2004 | Item not available on this server.

Capecitabine in combination with mitomycin C in patients with gastrointestinal cancer: results of an extended multicentre phase-I trial - R. D. Hofheinz, J. T. Hartmann, A. Willer, K. Oechsle, G. Hartung, U. Gnad, S. Saussele, S. Kreil, C. Bokemeyer, R. Hehlmann and A. Hochhaus
Type: Article | 2004 | Item not available on this server.

ADAM 33 and its association with airway remodeling and hyperresponsiveness in asthma - Stephen T. Holgate, Donna E. Davies, Steuart Rorke, Julie Cakebread, Gillian Murphy, Robert M. Powell and John W. Holloway
Type: Article | 2004 | Item not available on this server.

Genetics - J.W. Holloway and S.T. Holgate
Type: Article | 2004 | Item not available on this server.

Serum insulin-like growth factor-I concentrations in late middle age: no association with birthweight in three UK cohorts - R.I.G. Holt, H.E. Syddall, D.I.W. Phillips, C.N. Martyn, P.D. Gluckman, B.H. Breier, P.J. Wood and C.H. Fall
Type: Article | 2004 | Item not available on this server.

Type: Article | 2004 | Item not available on this server.

Type: Article | 2004 | Item not available on this server.

The impact of SNP density on fine-scale patterns of linkage disequilibrium - Xiayi Ke, Sarah Hunt, William Tapper, Robert Lawrence, George Stavrides, Jilur Ghori, Pamela Whittaker, Andrew Collins, Andrew P. Morris, David Bentley, Lon R. Cardon and Panos Deloukas
Type: Article | 2004 | Item not available on this server.

Evidence of differing genotypic effects of PPARalpha in women and men - Q. H. Khan, D. E. Pontefract, S. Iyengar and S. Ye
Type: Article | 2004 | Item not available on this server.

Branch site haplotypes that control alternative splicing - J. Kralovicova, S. Houngninou-Molango, A. Kramer and I. Vorechovsky
Type: Article | 2004 | Item not available on this server.

Genotypic effect of the -565C>T polymorphism in the ABCA1 gene promoter on ABCA1 expression and severity of atherosclerosis - Theodosios Kyriakou, Conrad Hodgkinson, David E. Pontefract, Srikanth Iyengar, W.Martin Howell, Yuk-ki Wong, Per Eriksson and Shu Ye
Type: Article | 2004 | Item not available on this server.

Functional disomy resulting from duplications of distal Xq in four unrelated patients - Katherine L. Lachlan, Morag N. Collinson, Richard O.C. Sandford, Berendine van Zyl, Patricia A. Jacobs and N. Simon Thomas
Type: Article | 2004 | Item not available on this server.

Type: Article | 2004 | Item not available on this server.

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 - Debbie A. Lawlor, Ian N.M. Day, Tom R. Gaunt, Lesley J. Hinks, Patricia J. Briggs, Matthew Kiessling, Nick Timpson, George Davey Smith and Shah Ebrahim
Type: Article | 2004 | Item not available on this server.

ADAM33 polymorphism: association with bronchial hyper-responsiveness in Korean asthmatics - J.H. Lee, H.S. Park, S.W. Park, A.S. Jang, S.T. Uh, T. Rhim, C.S. Park, S.J. Hong, S.T. Holgate, J.W. Holloway and H.D. Shin
Type: Article | 2004 | Item not available on this server.

Type: Article | 2004 | Item not available on this server.

Type: Article | 2004 | Item not available on this server.

An evaluation of the MassCLEAVE(tm) biochemistry for diagnostic screening - C. Mattocks, H.E. White, N. Owen, V.J. Durston, J.F. Harvey and N.C.P. Cross
Type: Article | 2004 | Item not available on this server.

Type: Article | 2004 | Item not available on this server.

Type: Article | 2004 | Item not available on this server.

Type: Book Section | 2004 | Henry Stewart Talks | Item not available on this server.

Unusual prenatal presentation of Beckwith-Wiedemann syndrome - V. Mulik, D. Wellesley, R. Sawdy and D.T. Howe
Type: Article | 2004 | Item not available on this server.

PIAS-1 is a checkpoint regulator which affects exit from G1 and G2 by sumoylation of p73 - Eliana Munarriz, Daniela Barcaroli, Anastasis Stephanou, Paul A. Townsend, Carine Maisse, Alessandro Terrinoni, Michael H. Neale, Seamus J. Martin, David S. Latchman, Richard A. Knight, Gerry Melino and Vincenzo De Laurenzi
Type: Article | 2004 | Item not available on this server.

Type: Article | 2004 | Item not available on this server.

Beta cell differentiation during early human pancreas development - K. Piper, S. Brickwood, L.W. Turnpenny, I.T. Cameron, S.G. Ball, D.I. Wilson and N.A. Hanley
Type: Article | 2004 | Item not available on this server.

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

Haplotypic analyses of the IGF2-INS-TH gene cluster in relation to cardiovascular risk traits - S. Rodriguez, T.R. Gaunt, S.D. O'Dell, X.H. Chen, D. Gu, E. Hawe, G.J. Miller, S.E. Humphries and I.N. Day
Type: Article | 2004 | Item not available on this server.

Type: Article | 2004 | Item not available on this server.

Distinct stem cell myeloproliferative/T lymphoma syndromes induced by ZNF198-FGFR1 and BCR-FGFR1 fusion genes from 8p11 translocations - Sergei Roumiantsev, Daniela S. Krause, Carola A. Neumann, Christopher A. Dimitri, Frances Asiedu, Nicholas C.P. Cross and Richard A. Van Etten
Type: Article | 2004 | Item not available on this server.

Warm blood cardioplegic arrest induces mitochondrial-mediated cardiomyocyte apoptosis associated with increased urocortin expression in viable cells - Tiziano M. Scarabelli, Evasio Pasini, Gianna Ferrari, Mario Ferrari, Anastasis Stephanou, Kevin Lawrence, Paul Townsend, Carol Chen-Scarabelli, Gianluca Gitti, Louis Saravolatz, David Latchman, Richard A. Knight and Julius M. Gardin
Type: Article | 2004 | Item not available on this server.

Familial X/Y translocations associated with variable sexual phenotype - A. Sharp, K. Kusz, J. Jaruzelska, M. Szarras-Czapnik, J. Wolski and P. Jacobs
Type: Article | 2004 | Item not available on this server.

MaGIC: a program to generate targeted marker sets for genome-wide association studies - C.L. Simpson, V.K. Hansen, P.C. Sham, A. Collins, J.F. Powell and A. Al-Chalabi
Type: Article | 2004 | Item not available on this server.

MADGE-based technologies for identification of unknown mutations at the population level: MeltMADGE and EndoVII-MADGE - Matthew J. Smith, Khalid K. Alharbi, Mohammed A. Aldahmesh, Gabriella Pante-de-Sousa, Guangwei Hou, Xiao-he Chen, Tom R. Gaunt, Diana M. Eccles, Keith R. Fox and Ian N.M. Day
Type: Book Section | 2004 | DNA Press | Item not available on this server.

Missense variations in the fibulin 5 gene and age-related macular degeneration - Edwin M. Stone, Terry A. Braun, Stephen R. Russell, Markus H. Kuehn, Andrew J. Lotery, Paula A. Moore, Christopher G. Eastman, Thomas L. Casavant and Val C. Sheffield
Type: Article | 2004 | Item availability restricted.

Epigallocatechin-3-gallate inhibits STAT-1 activation and protects cardiac myocytes from ischemia/reperfusion-induced apoptosis - P.A. Townsend, T.M. Scarabelli, E. Pasini, G. Gitti, M. Menegazzi, H. Suzuki, R.A. Knight, D.S. Latchman and A. Stephanou
Type: Article | 2004 | Item not available on this server.

Prader-Willi syndrome : A study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders - Marijcke W.M. Veltman, Russell J. Thompson, Sian E. Roberts, N. Simon Thomas, Joyce Whittington and Patrick F. Bolton
Type: Article | 2004 | Item not available on this server.

Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice - Mark Veugelers, David Wilkes, Kimberly Burton, Deborah A. McDermott, Yan Song, Marsha M. Goldstein, Krista La Perle, Carl. J. Vaughan, Art O'Hagan, Kenneth R. Bennett, Beat J. Meyer, Eric Legius, Mervi Karttunen, Reijo Norio, Helena Kaariainen, Michael Lavyne, Jean-Philippe Neau, Gert Richter, Kaan Kirali, Alan Farnsworth, Karen Stapleton, Peter Morelli, Yoshinori Takanashi, John-Steven Bamforth, Franz Eitelberger, Irene Noszian, Waldimiro Manfroi, James Powers, Yoshihiko Mochizuki, Tsuneo Imai, Gary T. C. Ko, Deborah A. Driscoll, Elizabeth Goldmuntz, Jay M. Edelberg, Amanda Collins, Diana Eccles, Alan D. Irvine, G. Stanley McKnight and Craig T. Basson
Type: Article | 2004 | Item not available on this server.

Clinical variability of patients with the t(6;8)(q27;p12) and FGFR1OP-FGFR1 fusion: two further cases - J.L. Vizmanos, R. Hernandez, M.J. Vidal, M.J. Larrayoz, M.D. Odero, J. Marin, M.T. Ardanaz, M.J. Calasanz and N.C.P. Cross
Type: Article | 2004 | Item not available on this server.

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 - José Vizmanos, Francisco J. Novo, José P. Roman, E. Joanna Baxter, Idoya Lahortiga, María J. Larrayoz, María D. Odero, Pilar Giraldo, María J. Calasanz and Nicholas C.P. Cross
Type: Article | 2004 | Item not available on this server.

Central hypothalamic-pituitary-adrenal activity and the metabolic syndrome: studies using the corticotrophin-releasing hormone test - Alexandra M.V. Ward, Holly E. Syddall, Peter J. Wood, Elaine M. Dennison and David I.W. Phillips
Type: Article | 2004 | Item not available on this server.

Contribution of ultrasonographic examination to the prenatal detection of trisomy 21: experience from 19 European registers - D. Wellesley, C. De Vigan, N. Baena, E. Cariati, C. Stoll, P.A. Boyd and M. Clementi
Type: Article | 2004 | Item not available on this server.

Detection and estimation of heteroplasmy for mitochondrial mutations using NanoChip and Pyrosequencing technology - H. White, V.J. Durston, A. Seller, C. Fratter, J.F. Harvey and N.C.P. Cross
Type: Article | 2004 | Item not available on this server.

Detection of chromosomal aneuploidy by paralogous gene quantification using the Pyrosequencing PSQ 96MA System - H. White, V.J. Durston, P. Strike, S. Deutsch, J.F. Harvey and N.C.P. Cross
Type: Article | 2004 | Item not available on this server.

Standardised primer optimisation and design specification - O. Wood, C J. Mattocks, J. Sillibourne, N. Owen, J.F. Harvey and N.C.P. Cross
Type: Article | 2004 | Item not available on this server.

Toll-like receptor 4 polymorphism and severity of atopy in asthmatics - I.A. Yang, S.J. Barton, S. Rorke, J.A. Cakebread, T.P. Keith, J.B. Clough, S.T. Holgate and J.W. Holloway
Type: Article | 2004 | Item not available on this server.

Type: Article | 2004 | Item not available on this server.

Characterization of ciliated bronchial epithelium 1, a ciliated cell-associated gene induced during mucociliary differentiation - Hajime Yoshisue, Sarah M. Puddicombe, Susan J. Wilson, Hans-Michael Haitchi, Robert M. Powell, David I. Wilson, Anita Pandit, Ann E. Berger, Donna E. Davies, John W. Holloway and Stephen T. Holgate
Type: Article | 2004 | Item not available on this server.

Type: Article | 2004 | Item not available on this server.

Impact of population structure, effective bottleneck time, and allele frequency on linkage disequilibrium maps - Weihua Zhang, Andrew Collins, Jane Gibson, William J. Tapper, Sarah Hunt, Panos Deloukas, David R. Bentley and Newton E. Morton
Type: Article | 2004 | Item not available on this server.

Type: Article | 2004 | Item not available on this server.

Tissue-specific knockouts of steroidogenic factor 1 - L. Zhao, M. Bakke, N. A. Hanley, G. Majdic, N. R. Stallings, P. Jeyasuria and K. L. Parker
Type: Article | 2004 | Item not available on this server.

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