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 2011
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Number of items: 57.
Early pontocerebellar hypoplasia with vanishing testes: A new syndrome? - Christopher Anderson, Justin H. Davies, Lilias Lamont and Nicola Foulds
Type: Article
| 2011
| Item not available on this server.
An atypical case of hypomethylation at multiple imprinted loci - Emma L. Baple, Rebecca L. Poole, Sahar Mansour, Catherine Willoughby, I. Karen Temple, Louise E. Docherty, Rohan Taylor and Deborah J.G. Mackay
Type: Article
| 2011
| Item not available on this server.
An intronic mutation in MLH1 associated with familial colon and breast cancer - F. Bianchi, M. Raponi, F. Piva, A. Viel, I. Bearzi, E. Galizia, R. Bracci, L. Belvederesi, C. Loretelli, C. Brugiati, F. Corradini, D. Baralle and R. Cellerino
Type: Article
| 2011
| Item not available on this server.
Mutations in the pre-replication complex cause Meier-Gorlin syndrome - Louise S. Bicknell, Ernie M.H.F. Bongers, Andrea Leitch, Stephen Brown, Jeroen Schoots, Margaret E. Harley, Salim Aftimos, Jumana Y. Al-Aama, Michael Bober, Paul A.J. Brown, Hans van Bokhoven, John Dean, Alaa Y. Edrees, Murray Feingold, Alan Fryer, Lies H. Hoefsloot, Nikolaus Kau, Nine V.A.M. Knoers, James MacKenzie, John M. Opitz, Pierre Sarda, Alison Ross, I. Karen Temple, Annick Toutain, Carol A. Wise, Michael Wright and Andrew P. Jackson
Type: Article
| 2011
| Item not available on this server.
Autism, language and communication in children with sex chromosome trisomies - Dorothy V.M. Bishop, Patricia A. Jacobs, Katherine Lachlan, Diana Wellesley, Angela Barnicoat, Patricia A. Boyd, Alan Fryer, Prisca Middlemiss, Sarah Smithsom, Kay Metcalfe, Deborah Shears, Victoria Leggett, Kate Natiion and Gaia Scerif
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites - Emanuele Buratti, Martin Chivers, Gyulin Hwang and Igor Vorechovsky
Type: Article
| 2011
Transgenic overexpression of HSP56 does not result in cardiac hypertrophy nor protect from ischaemia/reperfusion injury - Christopher J. Carroll, Naushaad Suleman, Sean M. Davidson, David J. Faulkes, James K. Diss, Richard Knight, Anastasis Stephanou, David S. Latchman and Paul A. Townsend
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
Clinical utility gene card for: WAGR syndrome - Carol Clericuzio, Melanie Hingorani, John A. Crolla, Veronica van Heyningen and Alain Verloes
Type: Article
| 2011
| Item not available on this server.
New neuropathological findings in Unverrichta–Lundborg disease: neuronal intranuclear and cytoplasmic inclusions - Nicola R. Cohen, Simon R. Hammans, James Macpherson and James A.R. Nicoll
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item not available on this server.
King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene - James J. Dowling, Suzanne Lillis, Kimberley Amburgey, Haiyan Zhou, Safa Al-Sarraj, Stefan J.A. Buk, Elizabeth Wraige, Gabby Chow, Stephen Abbs, Steven Leber, Katherine Lachlan, Diana Baralle, Alexandra Taylor, Caroline Sewry, Francesco Muntoni and Heinz Jungbluth
Type: Article
| 2011
| Item not available on this server.
Letter to the Editor. The t(1;9)(p34;q34) fusing ABL1 with SFPQ, a pre-mRNA processing gene, is recurrent in acute lymphoblastic leukemias - Francois P. Duhoux, Nathalie Auger, Sigrid De Wilde, Sebastian Wittnebel, Geneviève Ameye, Khadija Bahloula, Catherine Van den Berg, Jeanne-Marie Libouton, Pascale Saussoy and Francis H. Grand
Type: Article
| 2011
| Item not available on this server.
Clinical utility gene card for: Silver–Russell syndrome - Thomas Eggermann, Karin Buiting and I. Karen Temple
Type: Article
| 2011
| Item not available on this server.
Developmental plasticity of human foetal femur-derived cells in pellet culture: self assembly of an osteoid shell around a cartilaginous core - A.T. El-Serafi, D.I. Wilson, H.I. Roach and R.O.C. Oreffo
Type: Article
| 2011
| Item not available on this server.
Novel imatinib-sensitive PDGFRA activating point mutations in hypereosinophilic syndrome induce growth factor independence and leukemia-like disease - Christian Elling, Phillipp Erben, Christoph Walz, Marie Frickenhaus, Mirle Schemionek, Martin Stehling, Hubert Serve, Nicholas C.P. Cross, Andreas Hochhaus, Wolf-Karsten Hofmann, Wolfgang E. Berdel, Carsten Muller-Tidow, Andreas Reiter and Steffen Koschmieder
Type: Article
| 2011
| Item not available on this server.
Identification of FOXP1 and SNX2 as novel ABL1 fusion partners in acute lymphoblastic leukaemia - Thomas Ernst, Joannah Score, Michael Deininger, Claire Hidalgo-Curtis, Peter Lackie, William B. Ershler, John M. Goldman, Nicholas C.P. Cross and Francis H. Grand
Type: Article
| 2011
| Item not available on this server.
Paper 5: Surveillance of multiple congenital anomalies: Implementation of a computer algorithm in European registers for classification of cases - Ester Garne, Helen Dolk, Maria Loane, Diana Wellesley, Ingeborg Barisic, Elisa Calzolari and James Densem
Type: Article
| 2011
| Item not available on this server.
Letter to the editor: Genetic variants within chromosome 4q28.3 are not reproducibly associated with age-related macular degeneration (AMD) - Jane Gibson, Helen Griffiths, Andrew Collins, John R.W. Yates, James C. Folk, Jade S. East, Andrew J. Lotery and Sarah Ennis
Type: Article
| 2011
| Item not available on this server.
Letter to the editor. The t(4;9)(q11;q33) fuses CEP110 to KIT in a case of acute myeloid leukemia - F.H. Grand, K. Waghorn, T. Ernst, K. Ohyashiki and N.C.P. Cross
Type: Article
| 2011
| Item not available on this server.
Paper 6: EUROCAT member registries: Organization and activities - Ruth Greenlees, Amanda Neville, Marie-Claude Addor, Emmanuelle Amar, Larraitz Arriola, Marian Bakker, Ingeborg Barisic, Patricia A. Boyd, Elisa Calzolari, Berenice Doray, Elizabeth Draper, Stein Emil Vollset, Ester Garne, Miriam Gatt, Martin Haeusler, Karin Kallen, Babak Khoshnood, Anna Latos-Bielenska, Maria-Luisa Martinez-Frias, Anna Materna-Kiryluk, Carlos Matias Dias, Bob McDonnell, Carmel Mullaney, Vera Nelen, Mary O'Mahony, Anna Pierini, Annette Queisser-Luft, Hanitra Randrianaivo-Ranjatoélina, Judith Rankin, Anke Rissmann, Annukka Ritvanen, Joaquin Salvador, Antonin Sipek, David Tucker, Christine Verellen-Dumoulin, Diana Wellesley and Wladimir Wertelecki
Type: Article
| 2011
| Item not available on this server.
Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation - Karen Gronskov, Rebecca L. Poole, Johanne M.D. Hahnemann, Jennifer Thomson, Zeynup Tumer, Karen Brondum-Nielsen, Rinki Murphy, Kirstine Ravn, Linea Melchior, Alma Dedic, Birgitte Dolmer, I. Karen Temple, Susanne E. Boonen and Deborah J.G. Mackay
Type: Article
| 2011
| Item not available on this server.
Molecular profiling of chronic myelomonocytic leukemia reveals diverse mutations in >80% of patients with TET2 and EZH2 being of high prognostic relevance - V. Grossmann, A. Kohlmann, C. Eder, C. Haferlach, W. Kern, N.C.P. Cross, T. Haferlach and S. Schnittger
Type: Article
| 2011
| Item not available on this server.
DFNA8/12 caused by TECTA mutations is the most identified subtype of non-syndromic autosomal dominant hearing loss - Michael S. Hildebrand, Matías Morín, Nicole C. Meyer, Fernando Mayo, Silvia Modamio-Hoybjor, Angeles Mencía, Leticia Olavarrieta, Carmelo Morales-Angulo, Carla J. Nishimura, Heather Workman, Adam P. DeLuca, Ignacio del Castillo, Kyle R. Taylor, Bruce Tompkins, Corey W. Goodman, Isabelle Schrauwen, Maarten Van Wesemael, K. Lachlan, A. Eliot Shearer, Terry A. Braun, Patrick L.M. Huygen, Hannie Kremer, Guy Van Camp, Felipe Moreno, Thomas L. Casavant, Richard J.H. Smith and Miguel A. Moreno-Pelayo
Type: Article
| 2011
| Item not available on this server.
The two faces of myeloproliferative neoplasms: Molecular events underlying lymphoid transformation - Ailsa Holroyd, Nicholas C.P. Cross and Donald H. Macdonald
Type: Article
| 2011
| Item not available on this server.
Cryptic splice sites and split genes - Yuri Kapustin, Elcie Chan, Rupa Sarkar, Frederick Wong, Igor Vorechovsky, Robert M. Winston, Tatiana Tatusova and Nick J. Dibb
Type: Article
| 2011
| Item not available on this server.
Increased adiposity and altered adipocyte function in female survivors of childhood acute lymphoblastic leukaemia treated without cranial radiation - J.A. Kohler, R.J. Moon, S. Wright, E. Willows and J.H. Davies
Type: Article
| 2011
| Item not available on this server.
Compensatory signals associated with the activation of human GC 5' splice sites - Jana Kralovicova, Gyulin Hwang, A. Charlotta Asplund, Alexander Churbanov, C.I. Edvard Smith and Igor Vorechovsky
Type: Article
| 2011
| Item not available on this server.
Embryonic genotype and inbreeding affect preimplantation development in cattle - G. Lazzari, S. Colleoni, R. Duchi, A. Galli, F.D. Houghton and C. Galli
Type: Article
| 2011
| Item not available on this server.
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth - Sally Ann Lynch, Nicola Foulds, Ann-Charlotte Thuresson, Amanda L. Collins, Göran Annerén, Bernt-Oves Hedberg, Carol A. Delaney, James Iremonger, Caroline M. Murray, John A. Crolla, Colm Costigan, Wayne Lam, David R. Fitzpatrick, Regina Regan, Sean Ennis and Freddie Sharkey
Type: Article
| 2011
| Item not available on this server.
Protein kinase A (PKA) is central for forward transport of two pore domain potassium channels K2P3.1 and K2P9.1 - Alexandra Mant, David Elliott, Patrick A. Eyers and Ita M. O'Kelly
Type: Article
| 2011
| Item not available on this server.
Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people - Gareth J. McKay, Guiliana Silvestri, Usha Chakravarthy, Shilpa Dasari, Lars G. Fritsche, Bernhard H. Weber, Claudia N. Keilhauer, Michael L. Klein, Peter J. Francis, Caroline C. Klaver, Johannes R. Vingerling, Lintje Ho, Pauluus T.D.V. De Jong, Michael Dean, Julie Sawitzke, Paul N. Baird, Robyn H. Guymer, Dwight Stambolian, Anton Orlin, Johanna M. Seddon, Inga Peter, Alan F. Wright, Caroline Hayward, Andrew J. Lotery, Sarah Ennis, Michael B. Gorin, Daniel E. Weeks, Chia-Ling Kuo, Aroon D. Hingorani, Reecha Sofat, Valentina Cipriani, Anand Swaroop, Mohammed Othman, Atsuhiro Kanda, Wei Chen, Goncalo R. Abecasis, John R. Yates, Andrew R. Webster, Anthony T. Moore, Johan H. Seland, Mati Rahu, Gisele Soubrane, Laura Tomazzoli, Fotis Topouzis, Jesus Vioque, Ian S. Young, Aatrid E. Fletcher and Chris C. Patterson
Type: Article
| 2011
| Item not available on this server.
Common genetic variants are significant risk factors for early menopause: results from the breakthrough generations study - Anna Murray, Claire E. Bennett, John R.B. Perry, Michael N. Weedon, Patricia A. Jacobs, Danielle H. Morris, Nicholas Orr, Minouk J. Schoemaker, Michael Jones, Alan Ashworth and Anthony J. Swerdlow
Type: Article
| 2011
| Item not available on this server.
Large de novo deletion of 7p15.1 to 7p12.1 involving the imprinted gene GRB10 associated with a complex phenotype including features of Beckwith Wiedemann syndrome - Swati Naik, Elliott Riordan-Eva, N. Simon Thomas, Rebecca Poole, Mark Ashton, John A. Crolla and I. Karen Temple
Type: Article
| 2011
| Item not available on this server.
13q deletion anatomy and disease progression in patients with chronic lymphocytic leukemia - H. Parker, M.J.J. Rose-Zerilli, A. Parker, T. Chaplin, R. Wade, A. Gardiner, M. Griffiths, A. Collins, B.D. Young, D.G. Oscier and J.C. Strefford
Type: Article
| 2011
| Item not available on this server.
Science and policy mismatch in coastal zone ecosystem management - D. M. Paterson, N. D. Hanley, K. Black, E. C. Defew and M. Solan
Type: Article
| 2011
| Item not available on this server.
Conditional depletion of airway progenitor cells induces peribronchiolar fibrosis - Anne-Karina T. Perl, Dieter Riethmacher and Jeffrey A. Whitsett
Type: Article
| 2011
Genetically induced adult oligodendrocyte cell death is associated with poor myelin clearance, reduced remyelination, and axonal damage - Hartmut B.F. Pohl, Christina Porcheri, Thomas Mueggler, Lukas C. Bachmann, Gianvito Martino, Dieter Riethmacher, Robin J. M Franklin, Markus Rudin and Ueli Suter
Type: Article
| 2011
| Item not available on this server.
Composite likelihood-based meta-analysis of breast cancer association studies - Ioannis Politopoulos, Jane Gibson, William Tapper, Sarah Ennis, Diana Eccles and Andrew Collins
Type: Article
| 2011
| Item not available on this server.
Genome-wide association of breast cancer: composite likelihood with imputed genotypes - Ioannis Politopoulos, Jane Gibson, William Tapper, Sarah Ennis, Diana Eccles and Andrew Collins
Type: Article
| 2011
| Item not available on this server.
Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6 - Michela Raponi, Jana Kralovicova, Ellen Copson, Petr Divina, Diana Eccles, Peter Johnson, Diana Baralle and Igor Vorechovsky
Type: Article
| 2011
Neurophysiological evidence for cognitive and brain functional adaptation in adolescents living at high altitude - Cassandra Richardson, Alexandra M. Hogan, Romola S. Bucks, Ana Baya, Javier Virues-Ortega, John W. Holloway, Matthew Rose-Zerilli, Lyle J. Palmer, Rebecca J. Webster, Fenella J. Kirkham and Torsten Baldeweg
Type: Article
| 2011
| Item not available on this server.
Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation - David O. Robinson, David Hilton-Jones, David Mansfield, Göran Darius Hildebrand, Sophie Marks, Dorothy Mechan and Joanne Ramsay
Type: Article
| 2011
| Item not available on this server.
Relationship of vitamin D status to adult lung function and COPD - Seif O. Shaheen, Karen A. Jameson, Sian M. Robinson, Barbara J. Boucher, Holly E. Syddall, Avan Aihie Sayer, Cyrus Cooper, John W. Holloway and Elaine M. Dennison
Type: Article
| 2011
| Item not available on this server.
Prenatal and infant acetaminophen exposure, antioxidant gene polymorphisms, and childhood asthma - Seif O. Shaheen, Roger B. Newson, Susan M. Ring, Matthew J. Rose-Zerilli, John W. Holloway and A. John Henderson
Type: Article
| 2011
| Item not available on this server.
Progress in the development of small molecule therapeutics targeting Th17 cell function for the treatment of immune-inflammatory diseases - Stephen Shuttleworth, Paul Townsend, Franck Silva, Alexander Cecil, Thomas Hill, Cyrille Tomassi, Helen Rogers and Rebecca Harrison
Type: Book Section
| 2011
| Elsevier
| Item not available on this server.
JAK2(V617F) allele burden in polycythemia vera correlates with grade of myelofibrosis, but is not substantially affected by therapy - Richard T. Silver, Katherine Vandris, Y.Lynn Wang, Fernando Adriano, Amy V. Jones, Paul J. Christos and Nicholas C.P. Cross
Type: Article
| 2011
| Item not available on this server.
IDH2 somatic mutations in chronic myeloid leukemia patients in blast crisis - S. Soverini, J. Score, I. Iacobucci, A. Poerio, A. Lonetti, A. Gnani, S. Colarossi, A. Ferrari, F. Castagnetti, G. Rosti, F. Cervantes, A. Hochhaus, M. Delledonne, A. Ferrarini, M. Sazzini, D. Luiselli, M. Baccarani, N.C.P. Cross and G. Martinelli
Type: Article
| 2011
| Item not available on this server.
Bcr-Abl kinase domain mutation analysis in chronic myeloid leukemia patients treated with tyrosine kinase inhibitors: recommendations from an expert panel on behalf of European LeukemiaNet - Simona Soverini, Andreas Hochhaus, Franck E. Nicolini, Franz Gruber, Thoralf Lange, Giuseppe Saglio, Fabrizio Pane, Martin C. Muller, Thomas Ernst, Gianantonio Rosti, Kimmo Porkka, Michele Baccarani, Nicholas C.P. Cross and Giovanni Martinelli
Type: Article
| 2011
| Item not available on this server.
The myeloproliferative neoplasm-associated JAK2 46/1 haplotype is not overrepresented in chronic myelogenous leukemia - Ambra Spolverini, Amy V. Jones, Andreas Hochhaus, Lisa Pieri, Nicholas C.P. Cross and Alessandro M. Vannucchi
Type: Article
| 2011
| Item not available on this server.
Delivering early care in diabetes evaluation (DECIDE): a protocol for a randomised controlled trial to assess hospital versus home management at diagnosis in childhood diabetes - Julia K. Townson, John W. Gregory, David Cohen, Sue Channon, Nicola Harman, Justin H. Davies, Justin Warner, Nicola Trevelyan, Rebecca Playle, Michael Robling, Kerenza Hood and Lesley Lowes
Type: Article
| 2011
| Item not available on this server.
Type: Book Section
| 2011
| Wiley-Blackwell
| Item not available on this server.
Response of ETV6-FLT3 positive myeloid/lymphoid neoplasm with eosinophilia to inhibitors of FMS-like tyrosine kinase 3 - Christoph Walz, Philipp Erben, Michael Ritter, Adrian Bloor, Georgia Metzgeroth, Nick Telford, Claudia Haferlach, Torsten Haferlach, Stefan Gesk, Joannah Score, Wolf-Karsten Hofmann, Andreas Hochhaus, Nicholas C.P. Cross and Andreas Reiter
Type: Article
| 2011
| Item not available on this server.
A genome-wide association study to identify genetic determinants of atopy in subjects from the United Kingdom - Yize I. Wan, David P. Strachan, David M. Evans, John Henderson, Tricia McKeever, John W. Holloway, Ian P. Hall and Ian Sayers
Type: Article
| 2011
| Item not available on this server.
Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions - Marjolein H. Willemsen, Nicole de Leeuw, Catherine Mercer, Helen Eisenhauer, Joanne Morris, Morag N. Collinson, John C.K. Barber, Stephen T.S. Lam, Ivan F.M. Lo, Hanneke Rensen, Annemarie Ferwerda, Ben C.J. Hamel and Tjitske Kleefstra
Type: Article
| 2011
| Item not available on this server.
Type: Article
| 2011
| Item availability restricted.