Publications
Showing 1 to 25 of 2175 Publications found in the The Institute of Human Genetics.
- Moorman,AV; Chilton,L; Wilkinson,J; Ensor,HM; Bown,N; Proctor,SJ. A population-based cytogenetic study of adults with acute lymphoblastic leukemia. Blood 2010, 115(2), 206-214.
- Pearce SHS; Cheetham TD. Diagnosis and management of vitamin D deficiency. British Medical Journal 2010, 340(7738), 142-147.
- Klinge L; Harris JB; Charlton R; Laval S; Hornsey M; Chiu Y; Straub V; Lochmuller H; Bushby K. Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle. Muscle and Nerve 2010, 41(2), 166-173.
- Ioannides AS; Massa V; Ferraro E; Cecconi F; Spitz L; Henderson DJ; Copp AJ. Foregut separation and tracheo-oesophageal malformations: The role of tracheal outgrowth, dorso-ventral patterning and programmed cell death. Dev Biol 2010, In Press.
- Nakatomi M; Wang XP; Key D; Lund JJ; Turbe-Doan A; Kist R; Aw A; Chen Y; Maas RL; Peters H. Genetic interactions between Pax9 and Msx1 regulate lip development and several stages of tooth morphogenesis. Developmental Biology 2010, In Press.
- Dhomen N; DaRochaDias S; Hayward R; Ogilvie L; Hedley D; Delmas V; Henderson D; Springer CS; Pritchard C; Larue L; Marais R. Inducible expression of V600EBraf using tyrosinase-driven Cre recombinase results in embryonic lethality. Pig Cell Mel Res 2010, In Press.
- Choudhary M, Zhang X, Lako M, Stojkovic M, Murdoch A. "Beauty and Beast" molecule: HA in early human development. BJOG 2009, 116(10), 1408-1409.
- Choudhary M; Zhang X; Lako M; Stojkovic M; Murdoch A. "Beauty and Beast'' molecule; HA in early human development. BJOG: An International Journal of Obstetrics and Gynaecology 2009, 116(10), 1408.
- Biernacka JM; Cordell HJ. A composite-likelihood approach for identifying polymorphisms that are potentially directly associated with disease. European Journal of Human Genetics 2009, 17(5), 644-650.
- Sulong S; Moorman AV; Irving JAE; Strefford JC; Konn ZJ; Case MC; Minto L; Barber KE; Parker H; Wright SL; Stewart ARM; Bailey S; Bown NP; Hall AG; Harrison CJ. A comprehensive analysis of the CDKN2A gene in childhood acute lymphoblastic leukemia reveals genomic deletion, copy number neutral loss of heterozygosity, and association with specific cytogenetic subgroups. Blood 2009, 113(1), 100-107.
- Whittaker RG; Turnbull DM. A diagnostic tattoo. Clinical Genetics 2009, 75(1), 37-38.
- Fellous TG; McDonald SAC; Burkert J; Humphries A; Islam S; De-Alwis NMW; Gutierrez-Gonzalez L; Tadrous PJ; Elia G; Kocher HM; Bhattacharya S; Mears L; El-Bahrawy M; Turnbull DM; Taylor RW; Greaves LC; Chinnery PF; Day CP; Wright NA; Alison MR. A Methodological Approach to Tracing Cell Lineage in Human Epithelial Tissues. Stem Cells 2009, 27(6), 1410-1420.
- Blakely EL; Trip SA; Swalwell H; He LP; Wren DR; Rich P; Turnbull DM; Omer SE; Taylor RW. A New Mitochondrial Transfer RNA(Pro) Gene Mutation Associated With Myoclonic Epilepsy With Ragged-Red Fibers and Other Neurological Features. Archives of Neurology 2009, 66(3), 399-402.
- Vormoor J. A new subgroup of high-risk acute lymphoblastic leukaemia. The Lancet Oncology 2009, 10(2), 101-103.
- Al-Hamed M; Sayer JA; Al-Hassoun I; Al-Dahmash M; Meyer B. A Novel Mutation in NPHS2 Causing Steroid Resistant Nephrotic Syndrome in a Saudi Arabian Family. Pediatric Nephrology 2009, 24(9), 1808-1808.
- Zhang X; Neganova I; Przyborski S; Yang CB; Cooke M; Atkinson SP; Anyfantis G; Fenyk S; Keith WN; Hoare SF; Hughes O; Strachan T; Stojkovic M; Hinds PW; Armstrong L; Lako M. A role for NANOG in G1 to S transition in human embryonic stem cells through direct binding of CDK6 and CDC25A. Journal of Cell Biology 2009, 184(1), 67-82.
- Wolny S; McFarland R; Chinnery P; Cheetham T. Abnormal growth in mitochondrial disease. Acta Paediatrica 2009, 98(3), 553-554.
- Spyridopoulos I; Hoffmann J; Aicher A; Brummendorf TH; Doerr HW; Zeiher AM; Dimmeler S. Accelerated Telomere Shortening in Leukocyte Subpopulations of Patients With Coronary Heart Disease Role of Cytomegalovirus Seropositivity. Circulation 2009, 120(14), 1364-U69.
- Betts-Henderson J; Jaros E; Krishnan KJ; Perry RH; Reeve AK; Schaefer AM; Taylor RW; Turnbull DM. Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions. Neuropathology and Applied Neurobiology 2009. 9600 GARSINGTON RD, OXFORD OX4 2DQ, OXON, ENGLAND: BLACKWELL PUBLISHING, 35(1), 120-124.
- Rajan P; Elliott DJ; Robson CN; Leung HY. Alternative splicing and biological heterogeneity in prostate cancer. Nature Reviews Urology 2009, 6(8), 454-460.
- Lu Y; Ryan SL; Elliott DJ; Bignell GR; Futreal PA; Ellison DW; Bailey S; Clifford SC. Amplification and overexpression of Hsa-miR-3ob, Hsa-miR-30d and KHDRBS3 at 8q24.22-q24.23 in medulloblastoma. PLoS One 2009, 4(7), e6159.
- Mitchell AL; Pearce SHS. An elderly woman with weight loss and diarrhoea. British Medical Journal 2009, 338, b1721.
- Croiseau P and Cordell HJ. Analysis of North American Rheumatoid Arthritis Consortium data using a penalized logistic regression approach. BMC Proceedings 2009, in press.
- Gutierrez-Gonzalez L; Deheragoda M; Elia G; Leedham SJ; Shankar A; Imber C; Jankowski JA; Turnbull DM; Novelli M; Wright NA; McDonald SA. Analysis of the clonal architecture of the human small intestinal epithelium establishes a common stem cell for all lineages and reveals a mechanism for the fixation and spread of mutations. J Pathol 2009, 217(4), 489-96.
- Dipper CR; Maitra S; Thomas R; Lamb CA; McLean-Tooke APC; Ward R; Smith D; Spickett G; Mansfield JC. Anti-tissue transglutaminase antibodies in the follow-up of adult coeliac disease. Alimentary Pharmacology and Therapeutics 2009, 30(3), 236-244.
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87
