Newcastle University

Publications

Showing 476 to 500 of 2169 Publications found in the The Institute of Human Genetics.

• Douglas J; Cilliers D; Coleman K; Tatton-Brown K; Barker K; Bernhard B; Burn J; Huson S; Josifova D; Lacombe D; Malik M; Mansour S; Reid E; Cormier-Daire V; Cole T; Rahman N. Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. Nature Genetics 2007, 39(8), 963-965.
• Chinnery PF. Mutations in SUCLA2: A tandem ride back to the Krebs cycle. Brain 2007, 130(3), 606-609.
• S. E. Durham;D. C. Samuels;L. M. Cree;P. F. Chinnery. Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G. Am J Hum Genet 2007, 81(1), 189-95.
• Pekovic V, Harborth J, Broers J.L.V, Ramaekers F.C.S, van Engelen B, Lammens M, von Zglinicki T,Foisner R, Hutchison C.J, Markiewicz E. Nucleoplasmic LAP2 –lamin A complexes are required to maintain a proliferative state in human fibroblasts. J. Cell Biol 2007, (176), 163-172.
• Barker JN, Palmer CNA, Zhao Y, Liao H, Hull PR, Lee SP, Allen MH, Meggitt SJ, Reynolds NJ, Trembath RC, McLean WHI. Null mutations in the filaggrin gene (FLG) determine major susceptibility to early onset atopic dermatitis which persists into adulthood. Journal of Investigative Dermatology 2007, 127, 654-567 [Sept 21: Epub ahead of print].
• Gurreebun, F, Hartley, G.H, Brown, A.L, Ward M.C, Goodship, T.H.J. Nutritional screening in patients on hemodialysis: is subjective global assessment an appropriate tool?. Journal of Renal Nutrition 2007, 17, 114-7.
• R. Horvath;R. A. Kley;H. Lochmuller;M. Vorgerd. Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. Neurology 2007, 68(1), 56-8.
• Hubbers CU, Clemen CS, Kesper K, Boddrich A, Hofmann A, Kamarainen O,Tolksdorf K, Stumpf M, Reichelt J, Roth U, Krause S, Watts G, Kimonis V,Wattjes MP, Reimann J, Thal DR, Biermann K, Evert BO, Lochmuller H, Wanker EE, Schoser BG, Noegel AA, Schroder R. Pathological consequences of VCP mutations on human striated muscle. Brain 2007, 130, 381-93.
• Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Äärimaa T, Krahe R, Karcagi V, Huebner A, Beeson D, Abicht A, Lochmüller H. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain: a journal of neurology 2007, 130(6), 1497-1506.
• Hautot D; Pankhurst QA; Morris CM; Curtis A; Burn J; Dobson J. Preliminary observation of elevated levels of nanocrystalline iron oxide in the basal ganglia of neuroferritinopathy patients. Biochimica et Biophysica Acta - Molecular Basis of Disease 2007, 1772(1), 21-25.
• Whittaker, R.G.; Schaefer, A.M.; McFarland, R.; Taylor, R.W.; Walker, M.; Turnbull, D.M. Prevalence and progression of diabetes in mitochondrial disease. Diabetologia 2007, 50(10), 2085-9.
• Jaros E; Mahad D; Hudson G; Birchall D; Sawcer S; Griffiths P; Sunter J; Compston D; Perry R; Chinnery P. Primary spinal cord neurodegeneration in Leber hereditary optic neuropathy. Neurology 2007, 69(2), 214-216.
• Choudhary M; Zhang X; Stojkovic P; Hyslop L; Anyfantis G; Herbert M; Murdoch AP; Stojkovic M; Lako M. Putative role of hyaluronan and its related genes, HAS2 and RHAMM, in human early preimplantation embryogenesis and embryonic stem cell characterization. Stem Cells 2007, 25(12), 3045-3057.
• Routledge DM; Jackson A; Bourn D; Bown NP; Cole M; Slatter MA; Gennery AR; Curtis A. Quantitative assessment of mixed chimerism in allogeneic stem cell transplant patients - A comparison of molecular genetic and cytogenetic approaches. Journal of Pediatric Hematology / Oncology 2007, 29(6), 428-431.
• Wheeler E; Cordell HJ. Quantitative trait association in parent offspring trios: Extension of case/pseudocontrol method and comparison of prospective and retrospective approaches. Genetic Epidemiology 2007, 31(8), 813-833.
• Sewpaul A; Sayer JA; Mohamed MAS; Ahmed A; Shaw M; Prabhu VR; Wood K; Jones NA; Talbot D; Kanagasundaram NS. Rapid onset intratubular calcification following renal transplantation requiring urgent parathyroidectomy. Clinical Nephrology 2007, 68(1), 47-51.
• Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007, 130(10), 2725-2735.
• C. Godfrey;E. Clement;R. Mein;M. Brockington;J. Smith;B. Talim;V. Straub;S. Robb;R. Quinlivan;L. Feng;C. Jimenez-Mallebrera;E. Mercuri;A. Y. Manzur;M. Kinali;S. Torelli;S. C. Brown;C. A. Sewry;K. Bushby;H. Topaloglu;K. North;S. Abbs;F. Muntoni. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007, 130(Pt 10), 2725-35.
• Howell, N.; Elson, J.L.; Howell, C.; Turnbull, D.M. Relative rates of evolution in the coding and control regions of African mtDNAs. Molcular Biology & Evolution 2007, 24(10), 2213-21.
• E. Zeggini;M. N. Weedon;C. M. Lindgren;T. M. Frayling;K. S. Elliott;H. Lango;N. J. Timpson;J. R. Perry;N. W. Rayner;R. M. Freathy;J. C. Barrett;B. Shields;A. P. Morris;S. Ellard;C. J. Groves;L. W. Harries;J. L. Marchini;K. R. Owen;B. Knight;L. R. Cardon;M. Walker;G. A. Hitman;A. D. Morris;A. S. Doney;M. I. McCarthy;A. T. Hattersley. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 2007, 316(5829), 1336-41.
• Raivio T; Falardeau J; Dwyer A; Quinton R; Hayes FJ; Hughes VA; Cole LW; Pearce SH; Lee H; Boepple P; Crowley WF; Pitteloud N. Reversal of idiopathic hypogonadotropic hypogonadism. New England Journal of Medicine 2007, 357(9), 863-873.
• Walter MC, Reilich P, Huebner A, Fischer D, Schröder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause K.-H, Klutzny U, Bulst S, Frey JR, Lochmüller H. Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. Brain: a journal of neurology 2007, 130(6), 1485-1496.
• Kavanagh, D, Richards, A, Fremeaux-Bacchi, V, Noris, M, Goodship, T.H.J, Remuzzi, G, Atkinson, J.P. Screening for complement system abnormalities in patients with atypical hemolytic uremic syndrome. Clinical Journal of the American Society of Nephrology 2007, 2, 591-6.
• D. Kavanagh;A. Richards;V. Fremeaux-Bacchi;M. Noris;T. Goodship;G. Remuzzi;J. P. Atkinson. Screening for complement system abnormalities in patients with atypical hemolytic uremic syndrome. Clin J Am Soc Nephrol 2007, 2(3), 591-6.
• M Parkes, J Barrett, N Prescott, M Tremelling, C Anderson, S Fisher, R Roberts, E Nimmo, F Cummings, D Soars, H Drummond, C Lees, S Khawaja, R Bagnall, D Burke, C Todhunter, T Ahmad, C Onnie, W McArdle, D Strachan, G Bethel, C Bryan, P Deloukas, A Forbes, J Sanderson, D Jewell, J Satsangi, John C Mansfield, the Wellcome Trust Case Control Consortium, L Cardon and C Mathew. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn’s disease susceptibility. Nature Genetics 2007, 39(7), 830-832.

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