Publications
Showing 151 to 175 of 2169 Publications found in the The Institute of Human Genetics.
- Roycroft M; Fichna M; McDonald D; Owen K; Zurawek M; Gryczynska M; Januszkiewicz-Lewandowska D; Fichna P; Cordell H ; Donaldson P; Nowak J; Pearce S. The tryptophan 620 allele of the lymphoid tyrosine phosphatase (PTPN22 gene) predisposes to autoimmune Addison's disease. Clinical Endocrinology 2009, 70(3), 358-362.
- McDonald DO; Pearce SHS. Thyroid peroxidase forms thionamide-sensitive homodimers: relevance for immunomodulation of thyroid autoimmunity. Journal of Molecular Medicine 2009, 87(10), 971-980.
- Mitchell AL; Hickey B; Hickey JL; Pearce SHS. Trends in thyroid hormone prescribing and consumption in the UK. BMC Public Health 2009, 9, 132.
- Korada SM; Pearce MS; Avis E; Turner S; Cheetham TD. TSH Levels in Relation to Gestation, Birth Weight and Sex. Hormone Research 2009, 72(2), 120-123.
- Whittaker RG; Blackwood JK; Alston CL; Blakely EL; Elson JL; McFarland R; Chinnery PF; Turnbull DM; Taylor RW. Urine Heteroplasmy is the Best Predictor of Clinical Outcome in the m.3243A > G mtDNA Mutation. Neurology 2009. Philadelphia, PA: Lippincott Williams & Wilkins, 72(6), 568-569.
- Haimes EV; Porz RC; Scully JL; Rehmann-Sutter C. "So, what is an embryo?" A comparative study of the views of those asked to donate embryos for hESC research in the UK and Switzerland. New Genetics and Society 2008, 27(2), 113-126.
- Jungbluth H; Muntoni F; Ferreiro A; Core Myopathy Consortium. 150th ENMC International Workshop: Core Myopathies, 9-11th March 2007, Naarden, The Netherlands. Neuromuscular Disorders 2008, 18(12), 989-996.
- Chinnery PF; Zeviani M. 155th ENMC workshop: Polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands. Neuromuscular Disorders 2008, 18(3), 259-267.
- Sárközy A; Bushby KMD; Béroud C; Lochmüller HKM. 157th ENMC International Workshop: Patient registries for rare, inherited muscular disorders 25–27 January 2008 Naarden, The Netherlands. Neuromuscular Disorders 2008, 18(12), 997-1001.
- Barber JCK; Maloney VK; Huang S; Bunyan DJ; Cresswell L; Kinning E; Benson A; Cheetham T; Wyllie J; Lynch SA; Zwolinski S; Prescott L; Crow Y; Morgan R; Hobson E. 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. European Journal of Human Genetics 2008, 16(1), 18-27.
- Stewart JD; Hudson G; Yu Wai Man P; Blakeley EL; He L; Horvath R; Maddison P; Wright A; Griffiths PG; Turnbull DM; Taylor RW; Chinnery PF. OPA1 in multiple mitochondrial DNA deletion disorders. Neurology 2008, 71(22), 1829-1831.
- Greenall A; Lei GY; Swan DC; James K; Wang LM; Peters H; Wipat A; Wilkinson DJ; Lydall D. A genome wide analysis of the response to uncapped telomeres in budding yeast reveals a novel role for the NAD(+) biosynthetic gene BNA2 in chromosome end protection. Genome Biology 2008, 9(10), R146.
- Swalwell H; Blakely E; Sutton R; Tonska K; Elstner M; He L; Taivassalo T; Burns D; Turnbull DM; Haller R; Davidson M; Taylor RW. A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: Are two mutations better than one?. European Journal of Human Genetics 2008, 16(10), 1265-1274.
- Yang C; Przyborski S; Cooke MJ; Zhang X; Stewart R; Anyfantis G; Atkinson SP; Saretzki GC; Armstrong L; Lako M. A key role for telomerase reverse transcriptase unit in modulating human embryonic stem cell proliferation, cell cycle dynamics, and in vitro differentiation. Stem Cells 2008, 26(4), 850-863.
- Bayatti N; Moss JA; Sun L; Ambrose P; Ward JFH; Lindsay S; Clowry GJ. A molecular neuroanatomical study of the developing human neocortex from 8 to 17 postconceptional weeks revealing the early differentiation of the subplate and subventricular zone. Cerebral Cortex 2008, 18(7), 1536-1548.
- Schmidt CQ; Herbert AP; Kavanagh D; Gandy C; Fenton CJ; Blaum BS; Lyon M; Uhrin D; Barlow PN. A new map of glycosaminoglycan and C3b binding sites on factor H. Journal of Immunology 2008, 181(4), 2610-2619.
- Downham E; Winterthun S; Nakkestad HL; Hirth A; Halvorsen T; Taylor RW; Bindoff LA. A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance. Neuromuscular Disorders 2008, 18(4), 310-314.
- Blom AM; Bergstrom F; Edey MMJ; Diaz-Torres M; Kavanagh DG; Lampe AK; Goodship JA; Strain L; Moghal N; McHugh M; Inward C; Tomson C; Frémeaux-Bacchi V; Villoutreix BO; Goodship THJ. A novel non-synonymous polymorphism (p.Arg240His) in C4b-Binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activity. Journal of Immunology 2008, 180(9), 6385-6391.
- Wagner KR; Fleckenstein JL; Amato AA; Barohn RJ; Bushby K; Escolar DM; Flanigan KM; Pestronk A; Tawil R; Wolfe GI; Eagle M; Florence JM; King WM; Pandya S; Straub V; Juneau P; Meyers K; Csimma C; Araujo T; Allen R; Parsons SA; Wozney JM; Lavallie ER; Mendell JR. A phase I/II trial of MYO-029 in adult subjects with muscular dystrophy. Annals of Neurology 2008, 63(5), 561-71.
- Ahmad S; Kolli S; Li DQ; de Paiva CS; Pryzborski S; Dimmick I; Armstrong L; Figueiredo FC; Lako M. A putative role for RHAMM/HMMR as a negative marker of stem cell-containing population of human limbal epithelial cells. Stem Cells 2008, 26(6), 1609-1619.
- Cree L; Samuels D; De Sousa Lopes S; Rajasimha H; Wonnapinij P; Mann J; Dahl H; Chinnery P. A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes. Nature Genetics 2008, 40(2), 249-254.
- Hicks D; Lampe AK; Barresi R; Charlton RG; Fiorillo C; Bonnemann CG; Hudson J; Sutton R; Lochmüller HKM; Straub VW; Bushby KMD. A refined diagnostic algorithm for Bethlem myopathy. Neurology 2008, 70(14), 1192-1199.
- Arden C; Hampson L; Huang G; Shaw J; Aldibbiat A; Holliman G; Manas D; Khan S; Lange A; Agius L. A role for PFK-2/FBPase-2, as distinct from fructose 2,6-bisphosphate, in regulation of insulin secretion in pancreatic β-cells. Biochemical Journal 2008, 411(1), 41-51.
- Maimets T; Neganova I; Armstrong L; Lako M. Activation of p53 by nutlin leads to rapid differentiation of human embryonic stem cells. Oncogene 2008, 27(40), 5277-5287.
- Fang CJ; Richards A; Liszewski MK; Kavanagh D; Atkinson JP. Advances in understanding of pathogenesis of aHUS and HELLP. British Journal of Haematology 2008, 143(3), 336-348.
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