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 2005
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Number of items: 106.
Diaphragmatic paralysis and respiratory failure as a complication of Lyme disease - R.A. Abbott, S. Hammans, M. Margarson and B.M. Aji
Type: Article
| 2005
| Item not available on this server.
Angiotensin II type I receptor gene polymorphism: anthropometric and metabolic syndrome traits - M.R. Abdollahi, T.R. Gaunt, H.E. Syddall, C. Cooper, D.I.W. Phillips, S. Ye and I.N.M. Day
Type: Article
| 2005
| Item not available on this server.
Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population - Khalid K. Alharbi, Mohammed A. Aldahmesh, Emmanuel Spanakis, Lema Haddad, Roslyn A. Whittall, Xiao-he Chen, Hamid Rassoulian, Matt J. Smith, Julie Sillibourne, Nicola J. Ball, Nikki J. Graham, Patricia J. Briggs, Iain A. Simpson, David I.W. Phillips, Deborah A. Lawlor, Shu Ye, Stephen E. Humphries, Cyrus Cooper, George Davey Smith, Shah Ebrahim, Diana M. Eccles and Ian N.M. Day
Type: Article
| 2005
| Item not available on this server.
Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals - J. Baptista, E. Prigmore, S.M. Gribble, P.A. Jacobs, N.P. Carter and J.A. Crolla
Type: Article
| 2005
| Item availability restricted.
Type: Article
| 2005
| Item not available on this server.
Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences - J.C. Barber, N.S. Thomas, M.N. Collinson, N.R. Dennis, T. Liehr, A. Weise, B. Belitz, L. Pfeiffer, M. Kirchhoff, B. Krag-Olsen and C. Lundsteen
Type: Article
| 2005
| Item availability restricted.
Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level - John C.K. Barber, Viv Maloney, Edward J. Hollox, Annegret Stuke-Sontheimer, Gabi du Bois, Eva Daumiller, Ute Klein-Vogler, Andreas Dufke, John A.L. Armour and Thomas Liehr
Type: Article
| 2005
| Item availability restricted.
A novel class of pseudoautosomal region 1 deletions downstream of SHOX is associated with Léri-Weill dyschondrosteosis - Sara Benito-Sanz, N. Simon Thomas, Céline Huber, Darya Gorbenko del Blanco, Miriam Aza-Carmona, John A. Crolla, Vivienne Maloney, Jesús Argente, Ángel Campos-Barros, Valérie Cormier-Daire and Karen E. Heath
Type: Article
| 2005
| Item availability restricted.
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size - Jacquelyn Bond, Emma Roberts, Kelly Springell, Sophia Lizarraga, Sheila Scott, Julie Higgins, Daniel J. Hampshire, Ewan E. Morrison, G briella F. Leal, Elias O. Silva, Suzana M.R. Costa, Diana Baralle, Michela Raponi, Gulshan Karbani, Yasmin Rashid, Hussain Jafri, Christopher Bennett, Peter Corry, Christopher A. Walsh and C. Geoffrey Woods
Type: Article
| 2005
| Item not available on this server.
Congenital anomaly surveillance in England-ascertainment deficiencies in the national system - P.A. Boyd, B. Armstrong, H. Dolk, B. Botting, S. Pattenden, L. Abramsky, J. Rankin, M. Vrijheid and D. Wellesley
Type: Article
| 2005
| Item not available on this server.
Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion - D. Bremond-Gignac, J. A. Crolla, H. Copin, A. Guichet, D. Bonneau, L. Taine, D. Lacombe, C. Baumann, B. Benzacken and A. Verloes
Type: Article
| 2005
| Item not available on this server.
Pulmonary cachexia, systemic inflammatory profile, and the interleukin 1ß -511 single nucleotide polymorphism - Roelinka Broekhuizen, Robert F. Grimble, W. Martin Howell, Dennis J. Shale, Eva C. Creutzberg, Emiel F. Wouters and Annemie M. Schols
Type: Article
| 2005
| Item availability restricted.
Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect - P. Brouillard, M. Ghassibé, A. Penington, L.M. Boon, A. Dompmartin, I.K. Temple, M. Cordisco, D. Adams, F. Piette, J.I. Harper, S. Syed, F. Boralevi, A. Taïeb, S. Danda, E. Baselga, O. Enjolras, J.B. Mulliken and M. Vikkula
Type: Article
| 2005
| Item not available on this server.
Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment - Allan Caine, A. Edna Maltby, C. Anthony Parkin, Jonathan J. Waters and John A. Crolla
Type: Article
| 2005
| Item not available on this server.
Critical importance of conventional cytogenetics in detecting prognostically significant chromosome 13 deletions in myeloma - Laura Chiecchio, Rebecca K.M. Protheroe, Tim Parker, Christina Rudduck, Kan Luk Cheung, Gianpaolo Dagrada, Ashutosh Wechalekar, Mathew Nightingale, Christine J. Harrison, Nicholas C.P. Cross and Fiona M. Ross
Type: Article
| 2005
| Item not available on this server.
Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited - John A. Crolla, Sheila A. Youings, Sarah Ennis and Patricia A. Jacobs
Type: Article
| 2005
| Item availability restricted.
Association of C-reactive protein with blood pressure and hypertension: life course confounding and mendelian randomization tests of causality - George Davey Smith, Debbie A. Lawlor, Roger Harbord, Nic Timpson, Ann Rumley, Gordon D.O. Lowe, Ian N.M. Day and Shah Ebrahim
Type: Article
| 2005
| Item not available on this server.
The transcriptional coactivator p300 plays a critical role in the hypertrophic and protective pathways induced by phenylephrine in cardiac cells but is specific to the hypertrophic effect of urocortin (in special Issue on EMBO Symposium: Chemistry Meets Biology) - Sean M. Davidson, Paul A. Townsend, Chris Carroll, Alexander Yurek-George, Karanam Balasubramanyam, Tapas K. Kundu, Anastasis Stephanou, Graham Packham, A. Ganesan and David S. Latchman
Type: Article
| 2005
| Item not available on this server.
The linkage disequilibrium maps of three human chromosomes across four populations reflect their demographic history and a common underlying recombination pattern - Francisco M. De La Vega, Hadar Isaac, Andrew Collins, Charles R. Scafe, Bjarni V. Halldórsson, Xiaoping Su, Ross A. Lippert, Yu Wang, Marion Laig-Webster, Ryan T. Koehler, Janet S. Ziegle, Lewis T. Wogan, Junko F. Stevens, Kyle M. Leinen, Sheri J. Olson, Karl J. Guegler, Xiaoqing You, Lily H. Xu, Heinz G. Hemken, Francis Kalush, Mitsuo Itakura, Yi Zheng, Guy de Thé, Stephen J. O'Brien, Andrew G. Clark, Sorin Istrail, Michael W. Hunkapiller, Eugene G. Spier and Dennis A. Gilbert
Type: Article
| 2005
| Item not available on this server.
Evaluation of NSD2 and NSD3 in overgrowth syndromes - Jenny Douglas, Kim Coleman, Katrina Tatton-Brown, Helen E. Hughes, I. Karen Temple, Trevor R.P. Cole and Nazneen Rahman
Type: Article
| 2005
| Item not available on this server.
Cosmopolitan linkage disequilibrium maps - Jane Gibson, William Tapper, Weihua Zhang, Newton Morton and Andrew Collins
Type: Article
| 2005
| Item not available on this server.
Relapsing diabetes can result from moderately activating mutations in KCNJ11 - Anna L. Gloyn, Frank Reimann, Christophe Girard, Emma L. Edghill, Peter Proks, Ewan R. Pearson, I. Karen Temple, Deborah J.G. Mackay, Julian P.H. Shield, Debra Freedenberg, Kathryn Noyes, Sian Ellard, Frances M. Ashcroft, Fiona M. Gribble and Andrew T. Hattersley
Type: Article
| 2005
| Item not available on this server.
Pegylated liposomal doxorubicin and mitomycin C in combination with infusional 5-fluorouracil and sodium folinic acid in the treatment of advanced gastric cancer: results of a phase II trial - Senta Ulrike Gnad-Vogt, Ralph Dieter Hofheinz, Saussele Saussele, Sussane Kreil, Andreas Willer, Frank Willeke, Lothar Pilz, Rudiger Hehlmann and Andreas Hochhaus
Type: Article
| 2005
| Item not available on this server.
Radiotherapy for age-related macular degeneration: no more pilot studies please - S.V. Goverdhan, F.A. Gibbs and A.J. Lotery
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
NUP98-LEDGF fusion and t(9;11) in transformed chronic myeloid leukemia - Francis H. Grand, Prasad Koduru, Nicholas C.P. Cross and Steven L. Allen
Type: Article
| 2005
| Item not available on this server.
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes - S.M. Gribble, E. Prigmore, D.C. Burford, K.M. Porter, Bee Ling Ng, E.J. Douglas, H. Fiegler, P. Carr, D. Kalaitzopoulos, S. Clegg, R. Sandstrom, I.K. Temple, S.A. Youings, N.S. Thomas, N.R. Dennis, P.A. Jacobs, J.A. Crolla and N.P. Carter
Type: Article
| 2005
| Item not available on this server.
Phenotypic characterization of CD3-7+ cells in developing human intestine and an analysis of their ability to differentiate into T cells - Ute Gunther, Judith A. Holloway, John G. Gordon, Andrea Knight, Victoria Chance, Neil A. Hanley, David I. Wilson, Ruth French, Jo Spencer, Howard Steer, Graham Anderson and Thomas T. MacDonald
Type: Article
| 2005
| Item not available on this server.
Novel sulfasalazine analogues with enhanced NF-kB inhibitory and apoptosis promoting activity - F. Habens, N. Srinivasan, F. Oakley, D.A. Mann, A. Ganesan and G. Packham
Type: Article
| 2005
| Item not available on this server.
ADAM33 expression in asthmatic airways and human embryonic lungs - Hans Michael Haitchi, Robert M. Powell, Timothy J. Shaw, Peter H. Howarth, Susan J. Wilson, David I. Wilson, Stephen T. Holgate and Donna E. Davies
Type: Article
| 2005
| Item not available on this server.
Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes - Tom Hearn, Cosma Spalluto, Victoria Phillips, Glenn L. Renforth, Nane Copin, Neil A. Hanley and David I. Wilson
Type: Article
| 2005
| Item availability restricted.
Irinotecan and capecitabine as second-line treatment after failure for first-line infusional 24-h 5-fluorouracil/folinic acid in advanced colorectal cancer: a phase II study - Ralf-Dieter Hofheinz, Ulrike Gnad-Vogt, Axel Wein, Susanne Saussele, Sebastian Kreil, Lothar Pilz, Rudiger Hehlmann and Andreas Hochhaus
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
ADAM33: a newly identified gene in the pathogenesis of asthma - Stephen T. Holgate, Donna E. Davies, Rob M. Powell and John W. Holloway
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Variation in the toll-like receptor 4 gene and susceptibility to myocardial infarction - John W. Holloway, Ian A. Yang and Shu Ye
Type: Article
| 2005
| Item not available on this server.
Rate of progression of cognitive decline in Alzheimer's disease: effect of butyrylcholinesterase K gene variation - C. Holmes, C. Ballard, D. Lehmann, A. David Smith, H. Beaumont, I.N. Day, M. Nadeem Khan, S. Lovestone, M. McCulley, C.M. Morris, D.G. Munoz, K. O'Brien, C. Russ, T. Del Ser and D. Warden
Type: Article
| 2005
| Item not available on this server.
Role of gap junctions during early embryo development - Franchesca D. Houghton
Type: Review
| 2005
| Item not available on this server.
VEGF polymorphisms and severity of atherosclerosis - W.M. Howell, S. Ali, M.J. Rose-Zerilli and S. Ye
Type: Article
| 2005
| Item not available on this server.
Influence of cytokine and ICAM-1 gene polymorphisms on susceptibility to chronic pancreatitis - W.M. Howell, P.J. Pead, F.W. Shek, M.J. Rose-Zerilli, T. Armstrong, C.D. Johnson, D.R. Fine, J.P. Iredale and A.C. Bateman
Type: Article
| 2005
| Item not available on this server.
ICAM-1 polymorphisms and development of cutaneous malignant melanoma - W.M. Howell, M.J. Rose-Zerilli, J.M. Theaker and A.C. Bateman
Type: Article
| 2005
| Item not available on this server.
CYP2A6, MAOA, DBH, DRD4, and 5HT2A genotypes, smoking behaviour and cotinine levels in 1518 UK adolescents - Shuwen Huang, Derek G. Cook, Lesley J. Hinks, Xiao-he Chen, Shu Ye, Julie A. Gilg, Martin J. Jarvis, Peter H. Whincup and Ian N.M. Day
Type: Article
| 2005
| Item not available on this server.
Diurnal patterns of salivary cortisol and cortisone output in chronic fatigue syndrome - W.K. Jerjes, A.J. Cleare, S. Wessely, P.J. Wood and N.F. Taylor
Type: Article
| 2005
| Item not available on this server.
Complex segregation analysis of nasopharyngeal carcinoma in Guangdong, China: evidence for a multifactorial mode of inheritance (complex segregation analysis of NPC in China) - Wei-Hua Jia, Andrew Collins, Yi-Xin Zeng, Bing-Jian Feng, Xing Juan Yu, Li-Xi Huang, Qi-Sheng Feng, Ping Huang, Ming Hong Yao and Yin Yao Shugart
Type: Article
| 2005
| Item not available on this server.
Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders - Amy V. Jones, Sebastian Kreil, Katerina Zoi, Katherine Waghorn, Claire Curtis, Lingyan Zhang, Joannah Score, Rachel Seear, Andrew J. Chase, Francis H. Grand, Helen White, Christine Zoi, Dimitris Loukopoulos, Evangelos Terpos, Elisavet-Christine Vervessou, Beate Schultheis, Michael Emig, Thomas Ernst, Eva Lengfelder, Rüdiger Hehlmann, Andreas Hochhaus, David Oscier, Richard T. Silver, Andreas Reiter and Nicholas C.P. Cross
Type: Article
| 2005
| Item not available on this server.
Oral sessions. Sensitive detection of FIP1L1-PDGFRA fusion transcripts by real-time quantitative RT-PCR (RQ-PCR) reveals achievement of molecular remission in chronic eosinophilic leukemia treated with low-dose imatinib therapy - J. Jovanovic, A. Reiter, D. Cilloni, E. Gottardi, J. Score, H. Popp, G. Metzgeroth, C. Walz, A. Hochhaus, C. Roche, C. Preudhomme, M. Rondoni, E. Ottaviani, F. Rancati, E. Solomon, J. Apperley, G. Martinelli, G. Saglio, R. Hehlmann, N.C.P. Cross and D. Grimwade
Type: Article
| 2005
| Item not available on this server.
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11 - Kamini Kalidas, Adam C. Shaw, Andrew H. Crosby, Ruth Newbury-Ecob, Lynn Greenhalgh, Isabel K. Temple, Caroline Law, Amisha Patel, Michael A. Patton and Steve Jeffery
Type: Article
| 2005
| Item not available on this server.
Polymorphism of tandem repeat in promoter of 5-lipoxygenase in ASA-intolerant asthma: a positive association with airway hyperresponsiveness - S.-H. Kim, J.-S. Bae, C.-H. Suh, D.-H. Nahm, J.W. Holloway and H.-S. Park
Type: Article
| 2005
| Item not available on this server.
Leukotriene-related gene polymorphisms in patients with aspirin-intolerant urticaria and aspirin-intolerant asthma: differing contributions of ALOX5 polymorphism in Korean population - S.H. Kim, J.H. Choi, J.W. Holloway, C.H. Suh, D.H. Nahm, E.H. Ha, C.S. Park and H.S. Park
Type: Article
| 2005
| Item not available on this server.
Association of thromboxane A2 receptor gene polymorphism with the phenotype of acetyl salicylic acid-intolerant asthma - S.H. Kim, J.H. Choi, H.S. Park, J.W. Holloway, S.K. Lee, C.S. Park and H.D. Shin
Type: Article
| 2005
| Item not available on this server.
Biased exon/intron distribution of cryptic and de novo 3' splice sites - Jana Královičová, Mikkel B. Christensen and Igor Vořechovský
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Response and resistance in 300 patients with BCR-ABL-positive leukemias treated with imatinib in a single center: a 4.5-year follow-up - Tanja Lahaye, Birte Riehm, Ute Berger, Peter Paschka, Martin C. Müller, Sebastian Kreil, Kirsten Merx, Uwe Schwindel, Claudia Schoch, Rüdiger Hehlmann and Andreas Hochhaus
Type: Article
| 2005
| Item not available on this server.
Association of the lymphotoxin-alpha gene Thr26Asn polymorphism with severity of coronary atherosclerosis - R. Laxton, E. Pearce, T. Kyriakou and S. Ye
Type: Article
| 2005
| Item not available on this server.
Exonization of AluYa5 in the human ACE gene requires mutations in both 3' and 5' splice sites and is facilitated by a conserved splicing enhancer - Haixin Lei, Ian N.M. Day and Igor Vořechovský
Type: Article
| 2005
| Item not available on this server.
Identification of splicing silencers and enhancers in sense Alus: a role for pseudoacceptors in splice site repression - Haixin Lei and Igor Vořechovský
Type: Article
| 2005
| Item not available on this server.
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease - Rong Li, Anne B. Johnson, Gajja Salomons, James E. Goldman, Sakkubai Naidu, Roy Quinlan, Bruce Cree, Stephanie Z. Ruyle, Brenda Banwell, Marc D'Hooghe, Joseph R. Siebert, Cristin M. Rolf, Helen Cox, Alyssa Reddy, Luis Gonzalez Gutierrez-Solana, Amanda Collins, Roy O. Weller, Albee Messing, Marjo S. van der Knaap and Michael Brenner
Type: Article
| 2005
| Item not available on this server.
Glutamate excitotoxicity in glaucoma: truth or fiction? - A.J. Lotery
Type: Article
| 2005
| Item not available on this server.
Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology - Deborah J.G. Mackay, I. Karen Temple, Julian P.H. Shield and David O. Robinson
Type: Article
| 2005
| Item not available on this server.
The optimal measure of linkage disequilibrium reduces error in association mapping of affection status - N. Maniatis, N.E. Morton, J. Gibson, C.-F. Xu, L.K. Hosking and A. Collins
Type: Article
| 2005
| Item not available on this server.
ETV6/RUNX1 fusion at diagnosis and relapse: some prognostic indications - Mary Martineau, G. Reza Jalali, Kerry E. Barber, Zoë J. Broadfield, Kan Luk Cheung, John Lilleyman, Anthony V. Moorman, Sue Richards, Hazel M. Robinson, Fiona Ross and Christine J. Harrison
Type: Article
| 2005
| Item not available on this server.
Chronic neutrophilic leukemia with an associated V617F JAK2 tyrosine kinase mutation - D.P. Mc Lornan, M.J. Percy, A.V. Jones, N.C. Cross and M.F. Mc Mullin
Type: Article
| 2005
| Item not available on this server.
Broad molecular screening of an unclassifiable myeloproliferative disorder reveals an unexpected ETV6/ABL1 fusion transcript - S. Meyer-Monard, D. Mühlematter, A. Streit, A.J. Chase, A. Gratwohl, N.C.P. Cross, M. Jotterand and A. Tichelli
Type: Article
| 2005
| Item not available on this server.
Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype - Katja M. Milner, Ellen E. Craig, Russell J. Thompson, Marijcke W.M. Veltman, N. Simon Thomas, Sian Roberts, Margaret Bellamy, Sarah R. Curran, Caroline M.J. Sporikou and Patrick F. Bolton
Type: Article
| 2005
| Item not available on this server.
Characterization and multipotentiality of human fetal femur-derived cells: implications for skeletal tissue regeneration - Sayed-Hadi Mirmalek-Sani, Rahul S. Tare, Suzanne M. Morgan, Helmtrud I. Roach, David I. Wilson, Neil A. Hanley and Richard O.C. Oreffo
Type: Article
| 2005
| Item not available on this server.
DNA topoisomerase II in therapy-related acute promyelocytic leukemia - Anita R. Mistry, Carolyn A. Felix, Ryan J. Whitmarsh, Annabel Mason, Andreas Reiter, Bruno Cassinat, Anne Parry, Christoph Walz, Joseph L. Wiemels, Mark R. Segal, Lionel Adès, Ian A. Blair, Neil Osheroff, Andrew J. Peniket, Marina Lafage-Pochitaloff, Nicholas C.P. Cross, Christine Chomienne, Ellen Solomon, Pierre Fenaux and David Grimwade
Type: Article
| 2005
| Item not available on this server.
Linkage disequilibrium maps and association mapping - Newton E. Morton
Type: Article
| 2005
| Item not available on this server.
Chromosomal localization, genomic organization and evolution of the genes encoding human phosphatidylinositol transfer protein membrane-associated (PITPNM) 1, 2 and 3 - L. Ocaka, C. Spalluto, D.I. Wilson, D.M. Hunt and S. Halford
Type: Article
| 2005
| Item not available on this server.
Disruption and aberrant expression of HMGA2 as a consequence of diverse chromosomal translocations in myeloid malignancies - M.D. Odero, F.H. Grand, S. Iqbal, F. Ross, J.P. Roman, J.L. Vizmanos, J. Andrieux, J.L. Laï, M.J. Calasanz and N.C.P. Cross
Type: Article
| 2005
| Item not available on this server.
Investigating the role of the growth hormone-insulin-like growth factor (GH-IGF) axis as a determinant of male bone mineral density (BMD) - M.B.R. Patel, N.K. Arden, L.M. Masterson, D.I.W. Phillips, R. Swaminathan, H.E. Syddall, C.D. Byrne, P.J. Wood, C. Cooper and R.I.G. Holt
Type: Article
| 2005
| Item not available on this server.
Haplotype effect of the matrix metalloproteinase-1 gene on risk of myocardial infarction - Eve Pearce, David-Alexandre Tregouet, Ann Samnegård, Angharad R. Morgan, Charles Cox, Anders Hamsten, Per Eriksson and Shu Ye
Type: Article
| 2005
| Item not available on this server.
Prevalence of congenital anomalies in five British regions, 1991-99 - J. Rankin, S. Pattenden, L. Abramsky, P. Boyd, H. Jordan, D. Stone, M. Vrijheid, D. Wellesley and H. Dolk
Type: Article
| 2005
| Item not available on this server.
The t(8;9)(p22;p24) is a recurrent abnormality in chronic and acute leukemia that fuses PCM1 to JAK2 - Andreas Reiter, Christoph Walz, Ann Watmore, Claudia Schoch, Ilona Blau, Brigitte Schlegelberger, Ute Berger, Nick Telford, Shilani Aruliah, John A. Yin, Danny Vanstraelen, Helen F. Barker, Peter C. Taylor, Aisling O'Driscoll, Fabio Benedetti, Cornelia Rudolph, Hans-Jochem Kolb, Andreas Hochhaus, Rüdiger Hehlmann, Andrew Chase and Nicholas C.P. Cross
Type: Article
| 2005
| Item not available on this server.
Cortisol Secretion and Rate of Bone Loss in a Population-Based Cohort of Elderly Men and Women - R.M. Reynolds, E.M. Dennison, B.R. Walker, H.E. Syddall, P.J. Wood, R. Andrew, D.I.W. Phillips and C. Cooper
Type: Article
| 2005
| Item not available on this server.
Is there a gender difference in the associations of birthweight and adult hypothalamic-pituitary-adrenal axis activity? - R.M. Reynolds, B.R. Walker, H.E. Syddall, R. Andrew, P.J. Wood and D.I. Phillips
Type: Article
| 2005
| Item not available on this server.
Idiopathic hypereosinophilic syndrome in children: report of a 7-year-old boy with FIP1L1-PDGFRA rearrangement - Susana Rives, Inaki Alcorta, Teresa Toll, Esperanza Tuset, Jesus Estella and Nicholas C.P. Cross
Type: Article
| 2005
| Item not available on this server.
Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism - D.O. Robinson, S.R. Hammans, S.P. Read and J. Sillibourne
Type: Article
| 2005
| Item not available on this server.
Non-recombining chromosome Y haplogroups and centromeric HindIII RFLP in relation to blood pressure in 2,743 middle-aged Caucasian men from the UK - Santiago Rodriguez, Xiao-he Chen, George J. Miller and Ian N. Day
Type: Article
| 2005
| Item not available on this server.
Age has a profound effect on the incidence and significance of chromosome abnormalities in myeloma - F.M. Ross, A.H. Ibrahim, A. Vilain-Holmes, M.O. Winfield, L. Chiecchio, R.K. Protheroe, P. Strike, J.L. Gunasekera, A. Jones, C.J. Harrison, G.J. Morgan and N.C. Cross
Type: Article
| 2005
| Item not available on this server.
Type: Book Section
| 2005
| Humana Press
| Item not available on this server.
Linkage disequilibrium analysis of case-control data: an application to generalized aggressive periodontitis - C. Scapoli, L. Trombelli, E. Mamolini and A. Collins
Type: Article
| 2005
| Item not available on this server.
Validation of JAK2 and new clinical criteria for the diagnosis of Polycythemia Vera (PV) - Richard T. Silver, Amy V. Jones, Eric J. Feldman, Gail J. Roboz, Ellen K. Ritchie and Nicholas C.P. Cross
Type: Article
| 2005
| Item not available on this server.
Polymorphisms in a disintegrin and metalloprotease 33 (ADAM33) predict impaired early-life lung function - Angela Simpson, Nikolas Maniatis, Francine Jury, Julie A. Cakebread, Lesley A. Lowe, Stephen T. Holgate, Ashley Woodcock, William E. R. Ollier, Andrew Collins, Adnan Custovic, John W. Holloway and Sally L. John
Type: Article
| 2005
| Item not available on this server.
Combination of His-tagged T4 endonuclease VII with microplate array diagonal gel electrophoresis for high-throughput mutation scanning - Matt J. Smith, Gabriella Pante-de-Sousa, Khalid K. Alharbi, Xiao-he Chen, Ian N.M. Day and Keith R. Fox
Type: Article
| 2005
| Item not available on this server.
The catenin p120ctn inhibits Kaiso-mediated transcriptional repression of the beta-catenin/TCF target gene matrilysin - Christopher M. Spring, Kevin F. Kelly, Ita O'Kelly, Monica Graham, Howard C. Crawford and Juliet M. Daniel
Type: Article
| 2005
| Item not available on this server.
β-catenin/T-cell factor-mediated transcription is modulated by cell density in human bronchial epithelial cells - Mark D. Steel, Sarah M. Puddicombe, Lynnsey M. Hamilton, Rob M. Powell, John W. Holloway, Stephen T. Holgate, Donna E. Davies and Jane E. Collins
Type: Article
| 2005
| Item not available on this server.
Mortality in patients with Klinefelter syndrome in Britain: a cohort study - Anthony J. Swerdlow, Craig D. Higgins, Minouk J. Schoemaker, Alan F. Wright and Patricia A. Jacobs
Type: Article
| 2005
| Item not available on this server.
Cancer incidence and mortality in men with Klinefelter syndrome: a cohort study - Anthony J. Swerdlow, Minouk J. Schoemaker, Craig D. Higgins, Alan F. Wright and Patricia A. Jacobs
Type: Article
| 2005
| Item not available on this server.
Mortality and cancer incidence in women with extra X chromosomes: a cohort study in Britain - Anthony J. Swerdlow, Minouk J. Schoemaker, Craig D. Higgins, Alan F. Wright and Patricia A. Jacobs
Type: Article
| 2005
| Item not available on this server.
A map of the human genome in linkage disequilibrium units - W. Tapper, A. Collins, J. Gibson, N. Maniatis, S. Ennis and N.E. Morton
Type: Article
| 2005
| Item not available on this server.
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome - K. Tatton-Brown, J. Douglas, K. Coleman, G.K. Baujat, A. Clarke, A. Collins, S. Davies, F. Faravelli, H. Firth, C. Garrett, H. Hughes, B. Kerr, J. Liebelt, W. Reardon, G.B. Schaefer, M. Splitt, I.K. Temple, D. Waggoner, D.D. Weaver, L. Wilson, T. Cole, V. Cormier-Daire, A. Irrthum and N. Rahman
Type: Article
| 2005
| Item not available on this server.
TAS2R38 (phenylthiocarbamide) haplotypes, coronary heart disease traits, and eating behavior in the British Women's Heart and Health Study - N.J. Timpson, M. Christensen, D.A. Lawlor, T.R. Gaunt, I.N. Day, S. Ebrahim and G. Davey Smith
Type: Article
| 2005
| Item not available on this server.
C-reactive protein and its role in metabolic syndrome: mendelian randomisation study - N.J. Timpson, D.A. Lawlor, R.M. Harbord, T.R. Gaunt, I.N. Day, L.J. Palmer, A.T. Hattersley, S. Ebrahim, G.D. Lowe, A. Rumley and G. Davey Smith
Type: Article
| 2005
| Item not available on this server.
BAG-1: a multi-functional pro-survival molecule - Paul A. Townsend, Anastasis Stephanou, Graham Packham and David S. Latchman
Type: Article
| 2005
| Item not available on this server.
Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort - Claire Turner, Katherine Lachlan, Nishani Amerasinghe, Peter Hodgkins, Viv Maloney, John Barber and I. Karen Temple
Type: Article
| 2005
| Item availability restricted.
Embryo's moral status is unaffected by alteration - Lee Turnpenny
Type: Article
| 2005
| Item not available on this server.
Human embryonic germ cells for future neuronal replacement therapy - Lee Turnpenny, Iain T. Cameron, Cosma M. Spalluto, Karen Piper Hanley, David I. Wilson and Neil A. Hanley
Type: Article
| 2005
| Item not available on this server.
Exposure of the fetus and infant to hens' egg ovalbumin via the placenta and breast milk in relation to maternal intake of dietary egg - G.H.S. Vance, S.A. Lewis, K.E.C. Grimshaw, P.J. Wood, R.A. Briggs, C.A. Thornton and J.O. Warner
Type: Article
| 2005
| Item not available on this server.
A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study - Marijcke W.M. Veltman, Russell J. Thompson, Ellen E. Craig, Nicholas R. Dennis, Sian E. Roberts, Vanessa Moore, Josie A. Brown and Patrick F. Bolton
Type: Article
| 2005
| Item not available on this server.
Transient response to imatinib in an atypical chronic myeloproliferative disease associated with ins(9;4)(q34;q21q31) and a CDK5RAP2-PDGFRA fusion gene - Christoph Walz, Beate Schultheis, Georgia Metzgeroth, Claudia Schoch, Claire Curtis, Eva Lengfelder, Torsten Haferlach, Ute Berger, Andreas Hochhaus, Rüdiger Hehlmann, Nicholas C.P. Cross and Andreas Reiter
Type: Article
| 2005
| Item not available on this server.
An aetiological classification of birth defects for epidemiological research - D. Wellesley, P. Boyd, H. Dolk and S. Pattenden
Type: Article
| 2005
| Item not available on this server.
Evaluation of ChromoQuant in vitro diagnostic test kits (versions 1 and 2) for analysis of aneuploidy - H. White, V.J. Durston, J.F. Harvey and N.C.P. Cross
Type: Article
| 2005
| Item not available on this server.
Reference reagents for genetic testing: development of mutation detection controls by NGRL (Wessex) - H. White, G.L. Potts, V.J. Durston, J.F. Harvey and N.C.P. Cross
Type: Article
| 2005
| Item not available on this server.
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome - Lionel Willatt, James Cox, John Barber, Elisabet Dachs Cabanas, Amanda Collins, Dian Donnai, David R. FitzPatrick, Eddy Maher, Howard Martin, Josep Parnau, Lesley Pindar, Jacqueline Ramsay, Charles Shaw-Smith, Erik A. Sistermans, Michael Tettenborn, Dorothy Trump, Bert B.A. de Vries, Kate Walker and F. Lucy Raymond
Type: Article
| 2005
| Item not available on this server.
Association of tumor necrosis factor-alpha polymorphisms and ozone-induced change in lung function - Ian A. Yang, Olaf Holz, Rudolf A. Jörres, Helgo Magnussen, Sheila J. Barton, Santiago Rodríguez, Julie A. Cakebread, John W. Holloway and Stephen T. Holgate
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.