Publications
Showing 251 to 275 of 2169 Publications found in the The Institute of Human Genetics.
- Ban M; Elson J; Walton A; Turnbull D; Compston A; Chinnery P; Sawcer S; Turnbull,D. Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility. PLoS ONE [Electronic Resource] 2008, 3(8), e2891.
- Nemes A; De Coo IFM; Spruijt L; Smeets HJM; Chinnery PF; Soliman OII; Geleijnse ML; Ten Cate FJ. Is there alteration in aortic stiffness in Leber hereditary optic neuropathy?. European Journal of Ophthalmology 2008, 18(2), 309-312.
- Tilgner K; Atkinson SP; Golebiewska A; Stojkovic M; Lako M; Armstrong L. Isolation of Primordial Germ Cells from Differentiating Human Embryonic Stem Cells. Stem Cells 2008, 26(12), 3075-3085.
- Eley L; Gabrielides C; Adams M; Johnson CA; Hildebrandt F; Sayer JA. Jouberin localizes to collecting ducts and interacts with nephrocystin-1. Kidney International 2008, 74(9), 1139-1149.
- Loeher M; Luebken H; Reichelt J. Keratin 10-deficient keratinocytes show altered mechanical signalling in response to stretch in differentiated cultures. British Journal of Dermatology 2008, 158(4), 904.
- Klinge L; Dean AF; Kress W; Dixon P; Charlton RG; Müller JS; Anderson LV; Straub VW; Barresi R; Lochmüller H; Bushby K. Late onset in dysferlinopathy widens the clinical spectrum. Neuromuscular Disorders 2008, 18(4), 288-290.
- Sievenpiper JL; McIntyre EA; Verrill M; Quinton R; Pearce SHS. Lesson of the week: Unrecognised severe hypovitaminosis D. British Medical Journal 2008, 336(7657), 1371-1374.
- Korada SM; Pearce M; Avis E; Turner S; Wastell H; Kibirige M; Day J; Cheetham T. Lessons from a screening programme for congenital hypothyroidism: Rising incidence, an inverse relationship between birth-weight and TSH and the importance of threshold selection. Frontiers of Hormone Research 2008, 70(Supplement 1), 166.
- Guglieri M; Straub V; Bushby K; Lochmüller H. Limb-girdle muscular dystrophies. Current Opinion in Neurology 2008, 21(5), 576-584.
- Temtamy SA; Aglan MS; Valencia M; Cocchi G; Pacheco M; Ashour AM; Amr KS; Helmy SMH; El-Gammal MA; Wright M; Lapunzina P; Goodship JA; Ruiz-Perez VL. Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in ellis-van Creveld syndrome with borderline intelligence. Human Mutation 2008, 29(7), 931-938.
- Kolli S; Lako M; Figueiredo FC; Mudhar H; Ahmad S. Loss of corneal epithelial stem cell properties in outgrowths from human limbal explants cultured on intact amniotic membrane. Regenerative Medicine 2008, 3(3), 329-342.
- Hargus G; Kist R; Kramer J; Gerstel D; Neitz A; Scherer G; Rohwedel J. Loss of Sox9 function results in defective chondrocyte differentiation of mouse embryonic stem cells in vitro. International Journal of Developmental Biology 2008, 52(4), 323-332.
- Lochmuller HKM. M.I.3: Congenital myasthenic syndromes - Diagnosis and therapy. Neuromuscular Disorders 2008, 18(9-10), 779-780.
- Vaidya B; Pearce SHS. Management of hypothyroidism in adults. British Medical Journal 2008, 337, 284-289.
- McDonald SAC; Greaves LC; Gutierrez-Gonzalez L; Rodriguez-Justo M; Deheragoda M; Leedham SJ; Taylor RW; Lee CY; Preston SL; Lovell M; Hunt T; Elia G; Oukrif D; Harrison R; Novelli MR; Mitchell I; Stoker DL; Turnbull DM; Jankowski JAZ; Wright NA. Mechanisms of Field Cancerization in the Human Stomach: The Expansion and Spread of Mutated Gastric Stem Cells. Gastroenterology 2008, 134(2), 500-510.
- Fang CJ; Fremeaux-Bacchi V; Liszewski MK; Pianetti G; Noris M; Goodship THJ; Atkinson JP. Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome. Blood 2008, 111(2), 624-632.
- Viprey VF; Lastowska MA; Corrias MV; Swerts K; Jackson MS; Burchill SA. Minimal disease monitoring by QRT-PCR: Guidelines for identification and systematic validation of molecular markers prior to evaluation in prospective clinical trials. Journal of Pathology 2008, 216(2), 245-252.
- Mahad DJ; Ziabreva I; Lassmann H; Turnbull DM. Mitochondrial defects in acute multiple sclerosis lesions. Brain 2008, 131(7), 1722-1735.
- Schaefer AM; McFarland R; Chinnery PF; Taylor RW; Turnbull DM. Mitochondrial DNA Disease Prevalence: Still Underrecognized? Reply. Annals of Neurology 2008. DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, NJ 07030 USA: John Wiley & Sons, Inc, 64(4), 471-472.
- Reeve AK; Krishnan KJ; Turnbull D. Mitochondrial DNA mutations in desease, aging and neurodegeneration. Annals of the New York Academy of Sciences 2008, 1147, 21-29.
- Spyridopoulos I; Altschmied J; Andres V; Haendeler J. Mitochondrial p27 Is Required For Endothelial Energy Metabolism And Cell Migration. Circulation 2008, 118(18, supplement), S461 no. 3664.
- Hashibe M; McKay JD; Curado MP; Oliveira JC; Koifman S; Koifman R; Zaridze D; Shangina O; Wünsch-Filho V; Eluf-Neto J; Levi JE; Matos E; Lagiou P; Lagiou A; Benhamou S; Bouchardy C; Szeszenia-Dabrowska N; Menezes A; Dall'Agnol MM; Merletti F; Richiardi L; Fernandez L; Lence J; Talamini R; Barzan L; Mates D; Mates IN; Kjaerheim K; MacFarlane GJ; MacFarlane TV; Simonato L; Canova C; Holcátová I; Agudo A; Castellsagué X; Lowry RJ; Janout V; Kollarova H; Conway DI; McKinney PA; Znaor A; Fabianova E; Bencko V; Lissowska J; Chabrier A; Hung RJ; Gaborieau V; Boffetta P; Brennan P. Multiple ADH genes are associated with upper aerodigestive cancers. Nature Genetics 2008, 40(6), 707-709.
- Alejmi A; Sayer JA. Multiple thyroid cysts as an extra-renal manifestation of ADPKD. NDT Plus 2008, 1(4), 266-267.
- Case MC; Matheson E; Minto L; Hassan R; Harrison CJ; Bown NP; Bailey S; Vormoor J; Hall AG; Irving JAE. Mutation of genes affecting the RAS pathway is common in childhood acute lymphoblastic leukemia. Cancer Research 2008, 68(16), 6803-6809.
- Hudson G; Amati-Bonneau P; Blakely E; Stewart J; He L; Schaefer A; Griffiths P; Ahlqvist K; Suomalainen A; Reynier P; McFarland R; Turnbull D; Chinnery P; Taylor R. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: A novel disorder of mtDNA maintenance. Brain 2008, 131(2), 329-337.
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