Newcastle University

Publications

Showing 1 to 25 of 1626 Publications found in the The Institute of Human Genetics.

• 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.
• Biernacka, JM; Cordell, HJ. A composite likelihood approach for identifying polymorphisms that are potentially directly associated with disease. European Journal of Human Genetics 2009, in press.
• 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.
• R. G. Whittaker;D. M. Turnbull. A diagnostic tattoo. Clin Genet 2009, 75(1), 37-8.
• Fellous, T.G.; McDonald, S.A.; Burkert, J.; Humphries, A.; Islam, S; De-alwis, N.M.; Gutierrez-Gonzalez, L; Tadrous, P.J: Elia, G; Kocher, H.M.; Bhattacharya, S; Mears, L; El-Bahrawy, M; Turnbull, D.M.; Taulor, R.W.; Greaves, L.C.; Chinnery, P.F.; Day, C.P: Wright, N.A.; Alison, M.R. A methodological approach to tracing cell lineage in human epithelial tissues. Stem Cells 2009, 27(6), 1410-1420.
• E. L. Blakely;S. A. Trip;H. Swalwell;L. He;D. R. Wren;P. Rich;D. M. Turnbull;S. E. Omer;R. W. Taylor. A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features. Arch Neurol 2009, 66(3), 399-402.
• Vormoor J. A new subgroup of high-risk acute lymphoblastic leukaemia. The Lancet Oncology 2009, 10(2), 101-103.
• J. Betts-Henderson;E. Jaros;K. J. Krishnan;R. H. Perry;A. K. Reeve;A. M. Schaefer;R. W. Taylor;D. M. Turnbull. Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions. Neuropathol Appl Neurobiol 2009, 35(1), 120-4.
• 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.
• Croiseau P and Cordell HJ. Analysis of North American Rheumatoid Arthritis Consortium data using a penalized logistic regression approach. BMC Proceedings 2009, in press.
• L. Gutierrez-Gonzalez;M. Deheragoda;G. Elia;S. J. Leedham;A. Shankar;C. Imber;J. A. Jankowski;D. M. Turnbull;M. Novelli;N. A. Wright;S. A. McDonald. 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.
• McFarland, R.; Turnbull, D.M. Batteries not included: diagnosis and management of mitochondrial disease (Review). Journal of Internal Medicine 2009, 265(2), 210-28.
• Garrido CP; Gessner A; Greil J; Vormoor HJ; Heidenreich O. Caspase inhibition blocks apoptosis caused by MLL-AF4 depletion in t(4;11) positive ALL cell lines, but cannot abrogate subsequent necroptosis-like cell death. Klinische Pädiatrie 2009, 221(3), 197-197.
• Castro PGCG; Gessner A; Greil J; Heidenreich O; Vormoor HJ. Caspase inhibition blocks apoptosis caused by MLL-AF4 depletion in t(4;11)-positive ALL cell lines, but cannot abrogate subsequent necroptosis-like cell death. 14th Congress of the European Hematology Association 2009. Berlin, Germany: Haematologica: Ferrata Storti Foundation, 94, Suppl. 2, 8-8.
• Bomken SN; Vormoor HJ. Childhood leukaemia. Paediatrics and Child Health 2009, 19(8), 345-350.
• Aitken, H.; Gorman, G.; McFarland, R.; Roberts, M.; Taylor, R.W.; Turnbull, D.M. Clinical reasoning: blurred vision and dancing feet: restless legs syndrome presenting in mitochondrial disease. Neurology 2009, 72(18), e86-90.
• Cordell, HJ. Detecting gene-gene interactions that underlie human diseases. Nature Reviews Genetics 2009, in press.
• Wright, A.F.; Murphy, M.P.; Turnbull, D.M. Do organellar genomes function as long-term redox damage sensors?. Trends in Genetics 2009, 25(6), 253-61.
• Mahmoud M, Borthwick G M, Hislop A and Arthur HM. Endoglin and Activin Receptor-Like-Kinase 1 are Co-expressed in the Distal Vessels of the Lung: Implications for two familial Vascular Dysplasias, HHT and PAH. Laboratory Investigation 2009, 89(1), 15-25.
• Wilkes S, Chinn DJ, Murdoch A, Rubin G. Epidemiology and management of infertility: a population-based study in UK primary care. Family Practice 2009, 26(4), 269-274.
• Cordell HJ. Estimation and testing of gene-environment interactions in family-based association studies. Genomics 2009, 93(1), 5-9.
• Brown SJ; Relton CL; Liao H; Zhao Y; Sandilands A; McLean WH; Cordell HJ; Reynolds NJ. Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children. British Journal of Dermatology 2009, 161(4), 884-889.
• Anand SS, Xie C, Pare G, Montpetit A, Rangarajan S, McQueen M, Cordell H, Keavney B, Yusef S, Hudson TJ and Engert JC. Genetic variants associated with Myocardial Infarction risk factors in over 8,000 individuals from five ethnic groups: The INTERHEART Genetics Study. Circulation: Cardiovascular Genetics 2009, in press.
• Griffin HR, Hall DH, Topf A, Eden J, Stuart AG, Parsons J, Peart I, Deanfield J, O’ Sullivan J, Babu-Narayan S, Gatzoulis MA, Bu’Lock FA, Bhattacharya S, Bentham J, Farrall M, Brook JD, Burn J, Cordell HJ, Goodship JA and Keavney B. Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation. PLoS ONE 2009, in press.
• Daly AK, Donaldson PT Bhatnagar P, Shen Y, Pe’er I, Floratos A, Daly M, Nelson M, John S, Holden A, Graham J, Park BK, Bernal W, Cordell HJ, Pirmohamed M, Aithal GP and Day CP. HLA B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin: genome-wide and candidate gene studies. Nature Genetics 2009, in press.

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