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 2010
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Number of items: 89.
Genetic polymorphisms in the endotoxin receptor may influence platelet count as part of the acute phase response in critically ill children - Rachel S. Agbeko, John W. Holloway, Meredith L. Allen, Shu Ye, Katy J. Fidler, John Pappachan, Allan Goldman, David Pontefract, John Deanfield, Nigel J. Klein and Mark J. Peters
Type: Article
| 2010
| Item not available on this server.
Discovery of serum protein biomarkers for prostate cancer progression by proteomic analysis - J.A. Al-Ruwaili, S.E. Larkin, B.A. Zeidan, M.G. Taylor, C.N. Adra, C.L. Aukim-Hastie and P.A. Townsend
Type: Article
| 2010
| Item not available on this server.
The complement component 5 gene and age-related macular degeneration - Dominique C. Baas, Lintje Ho, Sarah Ennis, Joanna E. Merriam, Michael W.T. Tanck, André G. Uitterlinden, Paulus T.V.M. de Jong, Angela J. Cree, Helen L. Griffiths, Fernando Rivadeneira, Albert Hofman, Cornelia van Duijn, R. Theodore Smith, Gaetano R. Barile, Theo G.M.F. Gorgels, Johannes R. Vingerling, Caroline C.W. Klaver, Andrew J. Lotery, Rando Allikmets and Arthur A.B. Bergen
Type: Article
| 2010
| Item not available on this server.
Regulating the genome surveillance system: miRNAs and the p53 super family - Sarah G. Bailey, Tilman Sanchez-Elsner, Anastasis Stephanou, Mark S. Cragg and Paul A. Townsend
Type: Article
| 2010
| Item not available on this server.
Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies - Preeti Bakrania, Sibel A. Ugur Iseri, Alexander W. Wyatt, Dave J. Bunyan, Wayne W.K. Lam, Alison Salt, Jacqueline Ramsay, David O. Robinson and Nicola K. Ragge
Type: Article
| 2010
| Item not available on this server.
Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay - M. Balasubramanian, J.P. Shield, C.L. Acerini, J. Walker, S. Ellard, M. Marchand, M. Polak, M. Vaxillaire, J.A. Crolla, D.J. Bunyan, D.J. Mackay and I.K. Temple
Type: Article
| 2010
| Item not available on this server.
Novel aspects of alternative splicing - Diana Baralle
Type: Article
| 2010
| Item not available on this server.
Is karyotyping couples experiencing recurrent miscarriage worth the cost? - John Barber, A.E. Cockwell, E. Grant, S. Williams, R. Dunn and C.M. Ogilvie
Type: Article
| 2010
| Item not available on this server.
8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families - John C.K. Barber, Dave Bunyan, Merryl Curtis, Denise Robinson, Susanne Morlot, Anette Dermitzel, Thomas Liehr, Claudia Alves, Joana Trindade, Ana I. Paramos, Clare Cooper, Kevin Ocraft, Emma-Jane Taylor and Viv K. Maloney
Type: Article
| 2010
New targets of urocortin mediated cardioprotection - Sean Pio Barry, Kevin M. Lawrence, James McCormick, Surinder M. Soond, Mike Hubank, Simon Eaton, Ahila Sivarajah, Tiziano M. Scarabelli, Richard A. Knight, Christoph Thiemermann, David S. Latchman, Paul A. Townsend and Anastasis Stephanou
Type: Article
| 2010
| Item not available on this server.
Chapter three - what causes a broken heart? molecular insights into heart failure - Seán P. Barry and Paul A. Townsend
Type: Article
| 2010
| Item not available on this server.
STAT3 modulates the DNA damage response pathway - Seán P. Barry, Paul A. Townsend, Richard A. Knight, Tiziano M. Scarabelli, David S. Latchman and Anastasis Stephanou
Type: Article
| 2010
| Item not available on this server.
A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect - Mark S. Bateman, Sarju G. Mehta, Lionel Willatt, Elizabeth Selkirk, Clare Bedwell, Simon Zwolinski, Leeanne Sparnon, Ingrid Simonic, Kristin Abbott and John C.K. Barber
Type: Article
| 2010
| Item not available on this server.
Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure - Claire E. Bennett, Gerard S. Conway, James N. Macpherson, Patricia A. Jacobs and Anna Murray
Type: Article
| 2010
| Item not available on this server.
Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation - M. Blyth, M. Raponi, R. Treacy, F.L. Raymond, J.R. Yates and D. Baralle
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
The interleukin-1 cluster gene region is associated with multiple sclerosis in an Italian Caucasian population - I. Borzani, M.R. Tola, L. Caniatti, A. Collins, G. De Santis, D. Luiselli, E. Mamolini and C. Scapoli
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Platelets play an essential role in separating the blood and lymphatic vasculatures during embryonic angiogenesis - Laura Carramolino, Joana Fuentes, Clara García-Andrés, Valeria Azcoitia, Dieter Riethmacher and Miguel Torres
Type: Article
| 2010
| Item not available on this server.
TFG, a target of chromosome translocations in lymphoma and soft tissue tumors, fuses to GPR128 in healthy individuals - Andrew Chase, Thomas Ernst, Andreas Fiebig, Andrew Collins, Francis Grand, Phillip Erben, Andreas Reiter, Stefan Schreiber and Nicholas C.P. Cross
Type: Article
| 2010
| Item not available on this server.
A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elements - Alexander Churbanov, Igor Vorechovsky and Chindo Hicks
Type: Article
| 2010
Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH - M. Collinson, S.J. Leonard, J. Charlton, J.A. Crolla, C. Silve, C.M. Hall, C. Oglivie, M.A. James and S.F. Smithson
Type: Article
| 2010
| Item not available on this server.
Epibranchial ganglia orchestrate the development of the cranial neurogenic crest - Eva Coppola, Murielle Rallu, Juliette Richard, Sylvie Dufour, Dieter Riethmacher, François Guillemot, Christo Goridis and Jean-François Brunet
Type: Article
| 2010
| Item not available on this server.
Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes - L.E. Docherty, R Poole, C.J. Mattocks, A. Lehmann, I.K. Temple and D.J.G. Mackay
Type: Article
| 2010
| Item not available on this server.
Ambient Air Pollution and Risk of Congenital Anomalies in England, 1991-99 - H. Dolk, B. Armstrong, K. Lachowycz, M. Vrijheid, J. Rankin, L. Abramsky, P. Boyd and D. Wellesley
Type: Article
| 2010
| Item not available on this server.
Persistent fetal vasculature and severe protein C deficiency - A.G.L. Douglas, H. Rafferty, P. Hodgkins, A. Nagra, N.C. Foulds, M. Morgan and I.K. Temple
Type: Article
| 2010
| Item not available on this server.
No blind alleys in the clinic - Andrew G. L. Douglas
Type: Article
| 2010
| Item not available on this server.
Prevalence of myocilin gene mutations in a novel UK cohort of POAG patients - S. Ennis, J. Gibson, H. Griffiths, D. Bunyan, A.J. Cree, D. Robinson, J. Self, A. MacLeod and A. Lotery
Type: Article
| 2010
| Item not available on this server.
Support for the involvement of complement factor I in age-related macular degeneration - Sarah Ennis, Jane Gibson, Angela J. Cree, Andrew Collins and Andrew J. Lotery
Type: Article
| 2010
| Item not available on this server.
Screening for diverse PDGFRA or PDGFRB by fusion genes is facilitated by generic quantitative RT-PCR - Philipp Erben, Darko Gosenca, Martin C. Muller, Jelena Reinhard, Joannah Score, Francesco del Valle, Chistoph Walz, Jurgen Mix, Georgia Metzgeroth, Thomas Ernst, Claudia Haferlach, Nicholas C.P. Cross, Andreas Hochhaus and Andreas Reiter
Type: Article
| 2010
| Item not available on this server.
Transcription factor mutations in myelodysplastic/myeloproliferative neoplasms - Thomas Ernst, Andrew Chase, Katerina Zoi, Katherine Waghorn, Claire Hidalgo-Curtis, Joannah Score, Amy Jones, Frances Grand, Andreas Reiter, Andreas Hochhaus and Nicholas C. P. Cross
Type: Article
| 2010
| Item not available on this server.
Letter. Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders - Thomas Ernst, Andrew J. Chase, Joannah Score, Claire E. Hidalgo-Curtis, Catherine Bryant, Amy V. Jones, Katherine Waghorn, Katerina Zoi, Fiona M. Ross, Andreas Reiter, Andreas Hochhaus, Hans G. Drexler, Andrew Duncombe, Francisco Cervantes, David Oscier, Jacqueline Boultwood, Francis H. Grand and Nicholas C.P. Cross
Type: Article
| 2010
| Item not available on this server.
Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy - Sacha Ferdinandusse, Simon Barker, Katherine Lachlan, Marinus Duran, Hans R. Waterham, Ronald J. A. Wanders and Simon Hammans
Type: Article
| 2010
| Item not available on this server.
Stem cell marker TRA-1-60 is expressed in foetal and adult kidney and upregulated in tubulo-interstitial disease - Irina Fesenko, Danielle Franklin, Paul Garnett, Paul Bass, Sara Campbell, Michelle Hardyman, David Wilson, Neil Hanley and Jane Collins
Type: Article
| 2010
| Item not available on this server.
Hypoxia inducible factors regulate pluripotency and proliferation in human proliferation in human embryonic stem cells cultured at reduced oxygen tensions - Catherine E. Forristal, Kate L. Wright, Neil A. Hanley, Richard O.C. Oreffo and Franchesca D. Houghton
Type: Article
| 2010
Determination of a gene and environment risk model for age-related macular degeneration - Jane Gibson, Angela Cree, Andrew Collins, Andrew Lotery and Sarah Ennis
Type: Article
| 2010
| Item not available on this server.
Maternal Nrf2 and gluthathione-S-transferase polymorphisms do not modify associations of prenatal tobacco smoke exposure with asthma and lung function in school-aged children - A.J. Henderson, R.B. Newson, M. Rose-Zerilli, S.M. Ring, J.W. Holloway and S.O. Shaheen
Type: Article
| 2010
| Item not available on this server.
Fusion of PDGFRB to two distinct loci at 3p21 and a third at 12q13 in imatinib-responsive myeloproliferative neoplasms - Claire Hidalgo-Curtis, Jane F. Apperley, Anthony Stark, Michael Jeng, Jason Gotlib, Andrew Chase, Nicholas C.P. Cross and Francis H. Grand
Type: Article
| 2010
| Item not available on this server.
A de novo duplication of Xp11.22-p11.4 in a girl with intellectual disability, structural brain anomalies, and preferential inactivation of the normal X chromosome - Simon T. Holden, Amanda Clarkson, N. Simon Thomas, Kristin Abbott, Matthew R. James and Lionel Willatt
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Using genetics to predict the natural history of asthma? - John W. Holloway, Syed H. Arshad and Stephen T. Holgate
Type: Article
| 2010
| Item not available on this server.
ADAM33 expression in atherosclerotic lesions and relationship of ADAM33 gene variation with atherosclerosis - John W. Holloway, Ross C Laxton, Matthew J. Rose-Zerilli, Judith A. Holloway, A. Lynn Andrews, Zeshan Riaz, Susan J. Wilson, Iain A Simpson and Shu Ye
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Reduced cortical bone density with normal trabecular bone density in girls with Turner syndrome - C.R. Holroyd, J.H. Davies, P. Taylor, K. Jameson, C. Rivett, C. Cooper and E.M. Dennison
Type: Article
| 2010
| Item not available on this server.
Intrauterine exposure to carbamazepine and specific congenital malformations: systematic review and case-control study - Janneke Jentink, Helen Dolk, Maria A. Loane, Joan K. Morris, Diana Wellesley, Ester Garne and Lolkje de Jong-van den Berg
Type: Article
| 2010
| Item not available on this server.
The JAK2 46/1 haplotype predisposes to MPL mutated myeloproliferative neoplasms - Amy V. Jones, Peter J. Campbell, Philip A. Beer, Sussane Schnittger, Alessandro M. Vannucchi, Katerina Zoi, Melanie J. Percy, Mary Frances McMullin, Linda M. Scott, William Tapper, Richard T. Silver, D. Oscier, Claire N. Harrison, Harald Grallert, Aliaksei Kisialiou, Paul Strike, Andrew J. Chase, Anthony R. Green and Nicholas C.P. Cross
Type: Article
| 2010
| Item not available on this server.
No association between myeloproliferative neoplasms and the Crohn’s disease associated STAT3 predisposition SNP rs744166 - Amy V. Jones and Niicholas C.P. Cross
Type: Article
| 2010
| Item not available on this server.
The molecular pathogenesis of myeloproliferative
neoplasms - Amy Victoria Jones
Type: Thesis
| 2010
Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731 - Victoria J. Knorz, Cosma Spalluto, Mark Lessard, Tracey L. Purvis, Fiona F. Adigun, Gayle B. Collin, Neil A. Hanley, David I. Wilson and Thomas Hearn
Type: Article
| 2010
| Item not available on this server.
Allele-specific recognition of the 3' splice site of INS intron 1 - Jana Kralovicova and Igor Vorechovsky
Type: Article
| 2010
| Item not available on this server.
A polymorphism associated with STAT3 expression and response of chronic myeloid leukemia to interferon alpha - Sebastian Kreil, Katherine Waghorn, Thomas Ernst, Andrew Chase, Helen White, Rudiger Hehlmann, Andreas Reiter, Aandreas Hochhaus and Nicholas C.P. Cross
Type: Article
| 2010
| Item not available on this server.
A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation - Ana Cristina V. Krepischi, Carla Rosenberg, Silvia S. Costa, John A. Crolla, Shuwen Huang and Angela M. Vianna-Morgante
Type: Article
| 2010
| Item not available on this server.
DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins - Lene Bjerke Laborie, Deborah J.G. Mackay, I. Karen Temple, Anders Molven, Oddmund Søvik and Pål Rasmus Njølstad
Type: Article
| 2010
| Item not available on this server.
Effects of polyclonal IgG derived from patients with different clinical types of the antiphospholipid syndrome on monocyte signaling pathways - Anastasia Lambrianides, Christopher J. Carroll, Silvia S. Pierangeli, Charis Pericleous, Ware Branch, Jurhee Rice, David S. Latchman, Paul A. Townsend, David A. Isenberg, Anisur Rahman and Ian P. Giles
Type: Article
| 2010
| Item not available on this server.
Proteomics in prostate cancer biomarker discovery - Samantha E.T. Larkin, Bashar Zeidan, Matthew G. Taylor, Bridget Bickers, Jamal Al-Ruwaili, Claire Aukim-Hastie and Paul A. Townsend
Type: Article
| 2010
| Item not available on this server.
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder - Wilhelmina G. Leen, Joerg Klepper, Marcel M. Verbeek, Maike Leferink, Tom Hofste, Baziel G. van Engelen, Ron A. Wevers, Todd Arthur, Nadia Bahi-Buisson, Diana Ballhausen, Jolita Bekhof, Patrick van Bogaert, Inês Carrilho, Brigitte Chabrol, Michael P. Champion, James Coldwell, Peter Clayton, Elizabeth Donner, Athanasios Evangeliou, Friedrich Ebinger, Kevin Farrell, Rob J. Forsyth, Christian G.E.L. de Goede, Stephanie Gross, Stephanie Grunewald, Hans Holthausen, Sandeep Jayawant, Katherine Lachlan, Vincent Laugel, Kathy Leppig, Ming J. Lim, Grazia Mancini, Adela Della Marina, Loreto Martorell, Joe McMenamin, Marije E.C. Meuwissen, Helen Mundy, Nils O. Nilsson, Axel Panzer, Bwee T. Poll-The, Christian Rauscher, Christophe M.R. Rouselle, Inger Sandvig, Thomas Scheffner, Eamonn Sheridan, Neil Simpson, Parol Sykora, Richard Tomlinson, John Trounce, David Webb, Bernhard Weschke, Hans Scheffer and Michél A. Willemsen
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning - Christopher Mattocks, Gemma Watkins, Daniel Ward, Tom Janssens, Ermanno A.J. Bosgoed, Kim van der Donk, Marjolijn J. Ligtenberg, Bruno Pot, Joop Theelen, Nicholas C.P. Cross, Hans Scheffer and Gert Matthijs
Type: Article
| 2010
| Item not available on this server.
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies - David T. Miller, Margaret P. Adam, Swaroop Aradhya, Leslie G. Biesecker, Arthur R. Brothman, Nigel P. Carter, Deanna M. Church, John A. Crolla, Evan E. Eichler and Charles J. Epstein
Type: Article
| 2010
| Item not available on this server.
Glutathione-S-transferase genes and asthma phenotypes: a Human Genome Epidemiology (HuGE) systematic review and meta-analysis including unpublished data - Cosetta Minelli, Raquel Granell, Roger Newson, Matthew J. Rose-Zerilli, Maties Torrent, Sue M. Ring, John W. Holloway, Seif O. Shaheen and John A. Henderson
Type: Article
| 2010
Pituitary function at long-term follow up of childhood traumatic brain injury - Rebecca Jane Moon, Timothy Sutton, Peter Murray Wilson, Fenella Jane Kirkham and Justin Huw Davies
Type: Article
| 2010
| Item not available on this server.
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia - Daniel Moreno-De-Luca, Jennifer G. Mulle, Erin B. Kaminsky, Stephan J. Sanders, Scott M. Myers, Margaret P. Adam, Amy T. Pakula, Nancy J. Eisenhauer, Kim Uhas, LuAnn Weik, Lisa Guy, Melanie E. Care, Chantal F. Morel, Charlotte Boni, Bonnie Anne Salbert, Ashadeep Chandrareddy, Laurie A. Demmer, Eva W.C. Chow, Urvashi Surti, Swaroop Aradhya, Diane L. Pickering, Denae M. Golden, Warren G. Sanger, Emily Aston, Arthur R. Brothman, Troy J. Gliem, Erik C. Thorland, Todd Ackley, Ram Iyer, Shuwen Huang, John C.K. Barber, John A. Crolla, Stephen T. Warren, Christa L. Martin and David H. Ledbetter
Type: Article
| 2010
| Item not available on this server.
Images in neonatal medicine. Coat hanger appearances of the ribs: a useful diagnostic marker of paternal uniparental disomy of chromosome 14 - S. Naik and I.K. Temple
Type: Article
| 2010
| Item not available on this server.
Association between amino acid turnover and chromosome aneuploidy during human preimplantation embryo development in vitro - Helen M. Picton, Kay Elder, Franchesca D. Houghton, Judith A. Hawkhead, Anthony J. Rutherford, Jan E. Hogg, Henry J. Leese and Sarah E. Harris
Type: Article
| 2010
| Item not available on this server.
In vitro expression of NGN3 identifies RAB3B as the predominant Ras-associated GTP-binding protein 3 family member in human islets - Karen Piper Hanley, Tom Hearn, Andrew Berry, Melanie Carvell, Ann-Marie Patch, Louise Williams, Sarah Sugden, David I. Wilson, Sian Ellard and Neil A. Hanley
Type: Article
| 2010
| Item not available on this server.
Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting - Rebbeca L. Poole, Emma Baple, John A. Crolla, I.Karen Temple and Deborah J.G. Mackay
Type: Article
| 2010
| Item not available on this server.
Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1 - Tracey L. Purvis, Tom Hearn, Cosma Spalluto, Victoria J. Knorz, Karen Piper Hanley, Tilman Sanchez-Elsner, Neil A. Hanley and David I. Wilson
Type: Article
| 2010
| Item not available on this server.
Alternative splicing: good and bad effects of translationally silent substitutions - M. Raponi and D. Baralle
Type: Article
| 2010
| Item not available on this server.
Genome-wide association study identifies five loci associated with lung function - E. Repapi, I. Sayers, L.V. Wain, P.R. Burton, T. Johnson, M. Obeidat, J.H. Zhao, A. Ramasamy, G. Zhai, V. Vitart, J.E. Huffman, W. Igl, E. Albrecht, P. Deloukas, J. Henderson, R. Granell, W.L. McArdle, A.R. Rudnicka, I. Barroso, R.J.F. Loos, N.J. Wareham, L. Mustelin, T. Rantanen, I. Surakka, M. Imboden, H.E. Wichmann, I. Grkovic, S. Jankovic, L. Zgaga, A.L. Hartikainen, L. Peltonen, U. Gyllensten, A. Johansson, G. Zaboli, H. Campbell, S.H. Wild, J.F. Wilson, S. Glaser, G. Homuth, H. Volzke, M. Mangino, N. Soranzo, T.D. Spector, O. Polasek, I. Rudan, A.F. Wright, M. Heliovaara, C. Cooper, E. Dennison and J.W. Holloway
Type: Article
| 2010
| Item not available on this server.
Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions - Jill A. Rosenfeld, John A. Crolla, Susan Tomkins, Patricia Bader, Bernice Morrow, Jerome Gorski, Robin Troxell, Cynthia Forster-Gibson, Deirdre Cilliers, R. Gordon Hislop, Allen Lamb, Beth Torchia, Blake C. Ballif and Lisa G. Shaffer
Type: Article
| 2010
| Item not available on this server.
The t(14;20) is a poor prognostic factor in myeloma but is associated with long term stable disease in MGUS - Fiona M. Ross, Laura Chiecchio, GianPaolo Dagrada, Rebecca K.M. Protheroe, David M. Stockley, Christine J. Harrison, Nicholas C.P. Cross, Alex J. Szubert, Mark T. Drayson and Gareth J. Morgan
Type: Article
| 2010
| Item not available on this server.
Analysis of genomic breakpoints in p190 and p210 BCR–ABL indicate distinct mechanisms of formation - J. Score, M. Calasanz, O. Ottman, F. Pane, R.F. Yeh, M.A. Sobrinho-Simões, S. Kreil, D. Ward, C. Hidalgo-Curtis, J.V. Melo, J. Wiemels, B. Nadel, N.C.P. Cross and F.H. Grand
Type: Article
| 2010
| Item not available on this server.
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15 - Andrew J. Sharp, Eugenia Migliavacca, Yann Dupre, Elisavet Stathaki, Mohammad Reza Sailani, Alessandra Baumer, Albert Schinzel, Deborah J. Mackay, David O. Robinson, Gilda Cobellis, Luigi Cobellis, Han G. Brunner, Bernhard Steiner and Stylianos E. Antonarakis
Type: Article
| 2010
| Item not available on this server.
Histone deacetylase inhibitors: new promise in the treatment of immune and inflammatory diseases - Stephen J. Shuttleworth, Sarah G. Bailey and Paul A. Townsend
Type: Article
| 2010
| Item not available on this server.
Effect of sex and dietary fat intake on the fatty acid composition of phospholipids and triacylglycerol in rat heart - Joanne L. Slater-Jefferies, Samuel P. Hoile, Karen A. Lillycrop, Paul A. Townsend, Mark A. Hanson and Graham C. Burdge
Type: Article
| 2010
| Item not available on this server.
In search of the original leukemic clone in chronic myeloid leukemia patients in complete molecular remission after stem cell transplantation or imatinib - Manuel Sobrinho-Simoes, Vicki Wilczek, Joannah Score, Nicholas C.P. Cross, Jane F. Apperley and Junia V. Melo
Type: Article
| 2010
| Item not available on this server.
Allele-specific regulation of matrix metalloproteinase-3 gene by transcription factor NF?B - Veronika Souslova, Paul A. Townsend, Jelena Mann, Chris M. van der Loos, Anna Motterle, Fulvio D'Acquisto, Derek A. Mann, Shu Ye and Amanda Ewart Toland
Type: Article
| 2010
Type: Article
| 2010
| Item not available on this server.
Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay - A. Terracciano, N.C. Foulds, A. Ditchfield, D.J. Bunyan, J.A. Crolla, S. Huang, F.M. Santorelli and S.R. Hammans
Type: Article
| 2010
| Item availability restricted.
De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age - N. Simon Thomas, Joan K. Morris, Julia Baptista, Bee Ling Ng, John A. Crolla and Patricia A. Jacobs
Type: Article
| 2010
| Item not available on this server.
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma - Gudmar Thorleifsson, G. Bragi Walters, Alex W. Hewitt, Gisli Masson, Agnar Helgason, Andrew DeWan, Asgeir Sigurdsson, Adalbjorg Jonasdottir, Sigurjon A. Gudjonsson, Kristinn P Magnusson, Hreinn Stefansson, Dennis S. C. Lam, Pancy O. S. Tam, Gudrun J. Gudmundsdottir, Laura Southgate, Kathryn P. Burdon, Maria Soffia Gottfredsdottir, Micheala A Aldred, Paul Mitchell, David St Clair, David A. Collier, Nelson Tang, Orn Sveinsson, Stuart Macgregor, Nicholas G. Martin, Angela J Cree, Jane Gibson, Alex MacLeod, Aby Jacob, Sarah Ennis, Terri L. Young, Juliana C. N. Chan, Wojciech S. S. Karwatowski, Christopher J. Hammond, Kristjan Thordarson, Mingzhi Zhang, Claes Wadelius, Andrew J Lotery, Richard C. Trembath, Chi Pui Pang, Josephine Hoh, Jamie E. Craig, Augustine Kong, David A. Mackey, Fridbert Jonasson, Unnur Thorsteinsdottir and Kari Stefansson
Type: Article
| 2010
| Item not available on this server.
Meeting report. RNA splicing meets genetic testing: detection and interpretation of splicing defects in genetic diseases - Mario Tosi, Stefan Stamm and Diana Baralle
Type: Article
| 2010
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci - Claire Louise Turner, Deborah M. Mackay, Jonathan L.A. Callaway, Louise E. Docherty, Rebecca L. Poole, Hilary Bullman, Margaret Lever, Bruce M. Castle, Emma C. Kivuva, Peter D. Turnpenny, Sarju G. Mehta, Sahar Mansour, Emma L. Wakeling, Verghese Mathew, Jackie Madden, Justin H. Davies and I. Karen Temple
Type: Article
| 2010
| Item not available on this server.
Letter to the Editor: MER91B-assisted cryptic exon activation in Gitelman syndrome - Igor Vorechovsky
Type: Article
| 2010
| Item not available on this server.
Transposable elements in disease-associated cryptic exons - Igor Vorechovsky
Type: Article
| 2010
| Item not available on this server.
Epigenotype-phenotype correlations in Silver-Russell syndrome - E.L. Wakeling, S.A. Amero, M. Alders, J. Bliek, E. Forsythe, S. Kumar, D.H. Lim, F. MacDonald, D.J. Mackay, E.R. Maher, G.E. Moore, R.L. Poole, S.M. Price, T. Tangeraas, C.L.S. Turner, M.M. Van Haelst, C. Willoughby, I.K. Temple and J.M. Cobben
Type: Article
| 2010
| Item not available on this server.
Atypical mRNA fusions in PML-RARA positive, RARA-PML negative acute promyelocytic leukemia - Christopher Walz, David Grimwade, Susanne Saussele, Eva Lengfelder, Claudia Haferlach, Susanne Schnittger, Marina Lafage-Pochitaloff, Andreas Hochhaus, Nicholas C.P. Cross and Andreas Reiter
Type: Article
| 2010
| Item not available on this server.
Establishment of the first World Health Organization international genetic reference panel for quantitation of BCR-ABL mRNA - Helen E. White, Paul Matejtschuk, Peter Rigsby, Jean Gabert, Feng Lin, Y. Lynn Wang, Susan Branford, Martin C. Muller, Nathalie Beaufils, Emmanuel Beillard, Dolors Colomer, Dana Dvorakova, Hans Ehrencrona, Hyun-Gyung Goh, Hakim El Housni, Dan Jones, Veli Kairisto, Suzanne Kamel-Reid, Dong-Wook Kim, Stephen Langabeer, Edmund S.K. Ma, Richard D. Press, Giuliana Romeo, Lihui Wang, Katerina Zoi, Timothy Hughes, Giuseppe Saglio, Andreas Hochhaus, John M. Goldman, Paul Metcalfe and Nicholas C.P. Cross
Type: Article
| 2010
| Item not available on this server.
Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register - B. Wiedemann, E. Schober, T. Waldhoer, J. Koehle, S.E. Flanagan, D.J. Mackay, E. Steichen, D. Meranzer, L.B. Zimmerhackl, A.T. Hattersley, S. Ellard and S. Hofer
Type: Article
| 2010
| Item not available on this server.