Publications

Found 29 results
Filters: Keyword is Polymorphism, Single Nucleotide  [Clear All Filters]
2016
Harel T, Yoon WHee, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RAlan, Muzny DM, Lotze TE, Boerwinkle E, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ & Lupski JR (2016) Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet 99, 831-845
2012
Pelayo-Negro AL, Sánchez-Quintana C, Rodríguez-Oroz MC, Volpini V, Zeviani M, Tola-Arribas MA, Berciano J & Infante J (2012) Screening for POLG W748S and A467T mutations in ataxia patients from Spain. Mov Disord 27, 1326
2011
Hudson G, Yu-Wai-Man P, Griffiths PG, Horvath R, Carelli V, Zeviani M & Chinnery PF (2011) Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON. Mitochondrion 11, 620-2
2010
Hudson G, Yu-Wai-Man P, Griffiths PG, Caporali L, Salomao SS, Berezovsky A, Carelli V, Zeviani M & Chinnery PF (2010) Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy. Mol Vis 16, 2760-4
2009
Bowman R, Joosen AMCP, Welch AA, Luben RN, Khaw K-T, Wareham NJ & Bingham SA (2009) Factor VII, blood lipids and fat intake: gene-nutrient interaction and risk of coronary heart disease with the factor VII R353Q polymorphism. Eur J Clin Nutr 63, 771-7
Canzian F, Kaaks R, Cox DG, Henderson KD, Henderson BE, Berg C, Bingham S, Boeing H, Buring J, Calle EE, Chanock S, Clavel-Chapelon F, Dossus L, Feigelson HSpencer, Haiman CA, Hankinson SE, Hoover R, Hunter DJ, Isaacs C, Lenner P, Lund, iv E, Overvad K, Palli D, Pearce CLeigh, Quirós JR, Riboli E, Stram DO, Thomas G, Thun MJ, Trichopoulos D, van Gils CH & Ziegler RG (2009) Genetic polymorphisms of the GNRH1 and GNRHR genes and risk of breast cancer in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3). BMC Cancer 9, 257
Ong KK, Elks CE, Li S, Zhao JHua, Luan J'an, Andersen LB, Bingham SA, Brage S, Smith GDavey, Ekelund U, Gillson CJ, Glaser B, Golding J, Hardy R, Khaw K-T, Kuh D, Luben R, Marcus M, McGeehin MA, Ness AR, Northstone K, Ring SM, Rubin C, Sims MA, Song K, Strachan DP, Vollenweider P, Waeber G, Waterworth DM, Wong A, Deloukas P, Barroso I, Mooser V, Loos RJ & Wareham NJ (2009) Genetic variation in LIN28B is associated with the timing of puberty. Nat Genet 41, 729-33
Hudson G, Yu-Wai-Man P, Zeviani M & Chinnery PF (2009) Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy. Mol Vis 15, 870-5
Newton-Cheh C, Johnson T, Gateva V, Tobin MD, Bochud M, Coin L, Najjar SS, Zhao JHua, Heath SC, Eyheramendy S, Papadakis K, Voight BF, Scott LJ, Zhang F, Farrall M, Tanaka T, Wallace C, Chambers JC, Khaw K-T, Nilsson P, van der Harst P, Polidoro S, Grobbee DE, N Onland-Moret C, Bots ML, Wain LV, Elliott KS, Teumer A, Luan J'an, Lucas G, Kuusisto J, Burton PR, Hadley D, McArdle WL, Brown M, Dominiczak A, Newhouse SJ, Samani NJ, Webster J, Zeggini E, Beckmann JS, Bergmann S, Lim N, Song K, Vollenweider P, Waeber G, Waterworth DM, Yuan X, Groop L, Orho-Melander M, Allione A, Di Gregorio A, Guarrera S, Panico S, Ricceri F, Romanazzi V, Sacerdote C, Vineis P, Barroso I, Sandhu MS, Luben RN, Crawford GJ, Jousilahti P, Perola M, Boehnke M, Bonnycastle LL, Collins FS, Jackson AU, Mohlke KL, Stringham HM, Valle TT, Willer CJ, Bergman RN, Morken MA, Döring A, Gieger C, Illig T, Meitinger T, Org E, Pfeufer A, H Wichmann E, Kathiresan S, Marrugat J, O'Donnell CJ, Schwartz SM, Siscovick DS, Subirana I, Freimer NB, Hartikainen A-L, McCarthy MI, O'Reilly PF, Peltonen L, Pouta A, de Jong PE, Snieder H, van Gilst WH, Clarke R, Goel A, Hamsten A, Peden JF, Seedorf U, Syvänen A-C, Tognoni G, Lakatta EG, Sanna S, Scheet P, Schlessinger D, Scuteri A, Dörr M, Ernst F, Felix SB, Homuth G, Lorbeer R, Reffelmann T, Rettig R, Völker U, Galan P, Gut IG, Hercberg S, G Lathrop M, Zelenika D, Deloukas P, Soranzo N, Williams FM, Zhai G, Salomaa V, Laakso M, Elosua R, Forouhi NG, Völzke H, Uiterwaal CS, van der Schouw YT, Numans ME, Matullo G, Navis G, Berglund G, Bingham SA, Kooner JS, Connell JM, Bandinelli S, Ferrucci L, Watkins H, Spector TD, Tuomilehto J, Altshuler D, Strachan DP, Laan M, Meneton P, Wareham NJ, Uda M, Jarvelin M-R, Mooser V, Melander O, Loos RJF, Elliott P, Abecasis GR, Caulfield M & Munroe PB (2009) Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet 41, 666-76
Amundadottir L, Kraft P, Stolzenberg-Solomon RZ, Fuchs CS, Petersen GM, Arslan AA, H Bueno-de-Mesquita B, Gross M, Helzlsouer K, Jacobs EJ, LaCroix A, Zheng W, Albanes D, Bamlet W, Berg CD, Berrino F, Bingham S, Buring JE, Bracci PM, Canzian F, Clavel-Chapelon F, Clipp S, Cotterchio M, de Andrade M, Duell EJ, Fox JW, Gallinger S, J Gaziano M, Giovannucci EL, Goggins M, González CA, Hallmans G, Hankinson SE, Hassan M, Holly EA, Hunter DJ, Hutchinson A, Jackson R, Jacobs KB, Jenab M, Kaaks R, Klein AP, Kooperberg C, Kurtz RC, Li D, Lynch SM, Mandelson M, McWilliams RR, Mendelsohn JB, Michaud DS, Olson SH, Overvad K, Patel AV, Peeters PHM, Rajkovic A, Riboli E, Risch HA, Shu X-O, Thomas G, Tobias GS, Trichopoulos D, Van Den Eeden SK, Virtamo J, Wactawski-Wende J, Wolpin BM, Yu H, Yu K, Zeleniuch-Jacquotte A, Chanock SJ, Hartge P & Hoover RN (2009) Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer. Nat Genet 41, 986-90
Elstner M, Morris CM, Heim K, Lichtner P, Bender A, Mehta D, Schulte C, Sharma M, Hudson G, Goldwurm S, Giovanetti A, Zeviani M, Burn DJ, McKeith IG, Perry RH, Jaros E, Krüger R, Wichmann H-E, Schreiber S, Campbell H, Wilson JF, Wright AF, Dunlop M, Pistis G, Toniolo D, Chinnery PF, Gasser T, Klopstock T, Meitinger T, Prokisch H & Turnbull DM (2009) Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Ann Neurol 66, 792-8
Willer CJ, Speliotes EK, Loos RJF, Li S, Lindgren CM, Heid IM, Berndt SI, Elliott AL, Jackson AU, Lamina C, Lettre G, Lim N, Lyon HN, McCarroll SA, Papadakis K, Qi L, Randall JC, Roccasecca RMaria, Sanna S, Scheet P, Weedon MN, Wheeler E, Zhao JHua, Jacobs LC, Prokopenko I, Soranzo N, Tanaka T, Timpson NJ, Almgren P, Bennett A, Bergman RN, Bingham SA, Bonnycastle LL, Brown M, Burtt NP, Chines P, Coin L, Collins FS, Connell JM, Cooper C, Smith GDavey, Dennison EM, Deodhar P, Elliott P, Erdos MR, Estrada K, Evans DM, Gianniny L, Gieger C, Gillson CJ, Guiducci C, Hackett R, Hadley D, Hall AS, Havulinna AS, Hebebrand J, Hofman A, Isomaa B, Jacobs KB, Johnson T, Jousilahti P, Jovanovic Z, Khaw K-T, Kraft P, Kuokkanen M, Kuusisto J, Laitinen J, Lakatta EG, Luan J'an, Luben RN, Mangino M, McArdle WL, Meitinger T, Mulas A, Munroe PB, Narisu N, Ness AR, Northstone K, O'Rahilly S, Purmann C, Rees MG, Ridderstrale M, Ring SM, Rivadeneira F, Ruokonen A, Sandhu MS, Saramies J, Scott LJ, Scuteri A, Silander K, Sims MA, Song K, Stephens J, Stevens S, Stringham HM, Tung YCLoraine, Valle TT, Van Duijn CM, Vimaleswaran KS, Vollenweider P, Waeber G, Wallace C, Watanabe RM, Waterworth DM, Watkins N, Witteman JCM, Zeggini E, Zhai G, M Zillikens C, Altshuler D, Caulfield MJ, Chanock SJ, I Farooqi S, Ferrucci L, Guralnik JM, Hattersley AT, Hu FB, Jarvelin M-R, Laakso M, Mooser V, Ong KK, Ouwehand WH, Salomaa V, Samani NJ, Spector TD, Tuomi T, Tuomilehto J, Uda M, Uitterlinden AG, Wareham NJ, Deloukas P, Frayling TM, Groop LC, Hayes RB, Hunter DJ, Mohlke KL, Peltonen L, Schlessinger D, Strachan DP, Wichmann H-E, McCarthy MI, Boehnke M, Barroso I, Abecasis GR & Hirschhorn JN (2009) Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet 41, 25-34
2008
Loos RJF, Lindgren CM, Li S, Wheeler E, Zhao JHua, Prokopenko I, Inouye M, Freathy RM, Attwood AP, Beckmann JS, Berndt SI, Jacobs KB, Chanock SJ, Hayes RB, Bergmann S, Bennett AJ, Bingham SA, Bochud M, Brown M, Cauchi S, Connell JM, Cooper C, Smith GDavey, Day I, Dina C, De S, Dermitzakis ET, Doney ASF, Elliott KS, Elliott P, Evans DM, I Farooqi S, Froguel P, Ghori J, Groves CJ, Gwilliam R, Hadley D, Hall AS, Hattersley AT, Hebebrand J, Heid IM, Lamina C, Gieger C, Illig T, Meitinger T, Wichmann H-E, Herrera B, Hinney A, Hunt SE, Jarvelin M-R, Johnson T, Jolley JDM, Karpe F, Keniry A, Khaw K-T, Luben RN, Mangino M, Marchini J, McArdle WL, McGinnis R, Meyre D, Munroe PB, Morris AD, Ness AR, Neville MJ, Nica AC, Ong KK, O'Rahilly S, Owen KR, Palmer CNA, Papadakis K, Potter S, Pouta A, Qi L, Randall JC, Rayner NW, Ring SM, Sandhu MS, Scherag A, Sims MA, Song K, Soranzo N, Speliotes EK, Syddall HE, Teichmann SA, Timpson NJ, Tobias JH, Uda M, Vogel CIGanz, Wallace C, Waterworth DM, Weedon MN, Willer CJ, Yuan X, Zeggini E, Hirschhorn JN, Strachan DP, Ouwehand WH, Caulfield MJ, Samani NJ, Frayling TM, Vollenweider P, Waeber G, Mooser V, Deloukas P, McCarthy MI, Wareham NJ, Barroso I, Jacobs KB, Chanock SJ, Hayes RB, Lamina C, Gieger C, Illig T, Meitinger T, Wichmann H-E, Kraft P, Hankinson SE, Hunter DJ, Hu FB, Lyon HN, Voight BF, Ridderstrale M, Groop L, Scheet P, Sanna S, Abecasis GR, Albai G, Nagaraja R, Schlessinger D, Jackson AU, Tuomilehto J, Collins FS, Boehnke M & Mohlke KL (2008) Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet 40, 768-75
Mineri R, Rimoldi M, Burlina AB, Koskull S, Perletti C, Heese B, von Döbeln U, Mereghetti P, Di Meo I, Invernizzi F, Zeviani M, Uziel G & Tiranti V (2008) Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. J Med Genet 45, 473-8
Spinazzola A, Massa V, Hirano M & Zeviani M (2008) Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians. Neuromuscul Disord 18, 315-8
Sandhu MS, Waterworth DM, Debenham SL, Wheeler E, Papadakis K, Zhao JHua, Song K, Yuan X, Johnson T, Ashford S, Inouye M, Luben R, Sims M, Hadley D, McArdle W, Barter P, Y Kesäniemi A, Mahley RW, McPherson R, Grundy SM, Bingham SA, Khaw K-T, Loos RJF, Waeber G, Barroso I, Strachan DP, Deloukas P, Vollenweider P, Wareham NJ & Mooser V (2008) LDL-cholesterol concentrations: a genome-wide association study. Lancet 371, 483-91
Dossus L, McKay JD, Canzian F, Wilkening S, Rinaldi S, Biessy C, Olsen A, Tjønneland A, Jakobsen MU, Overvad K, Clavel-Chapelon F, Boutron-Ruault M-C, Fournier A, Linseisen J, Lukanova A, Boeing H, Fisher E, Trichopoulou A, Georgila C, Trichopoulos D, Palli D, Krogh V, Tumino R, Vineis P, Quirós JRamón, Sala N, Martínez-García C, Dorronsoro M, Chirlaque M-D, Barricarte A, van Duijnhoven FJB, Bueno-de-Mesquita HB, van Gils CH, Peeters PHM, Hallmans G, Lenner P, Bingham S, Khaw KTee, Key TJ, Travis RC, Ferrari P, Jenab M, Riboli E & Kaaks R (2008) Polymorphisms of genes coding for ghrelin and its receptor in relation to anthropometry, circulating levels of IGF-I and IGFBP-3, and breast cancer risk: a case-control study nested within the European Prospective Investigation into Cancer and Nutrition (. Carcinogenesis 29, 1360-6
Hung RJ, McKay JD, Gaborieau V, Boffetta P, Hashibe M, Zaridze D, Mukeria A, Szeszenia-Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Mates D, Bencko V, Foretova L, Janout V, Chen C, Goodman G, Field JK, Liloglou T, Xinarianos G, Cassidy A, McLaughlin J, Liu G, Narod S, Krokan HE, Skorpen F, Elvestad MBratt, Hveem K, Vatten L, Linseisen J, Clavel-Chapelon F, Vineis P, H Bueno-de-Mesquita B, Lund, iv E, Martinez C, Bingham S, Rasmuson T, Hainaut P, Riboli E, Ahrens W, Benhamou S, Lagiou P, Trichopoulos D, Holcátová I, Merletti F, Kjaerheim K, Agudo A, Macfarlane G, Talamini R, Simonato L, Lowry R, Conway DI, Znaor A, Healy C, Zelenika D, Boland A, Delepine M, Foglio M, Lechner D, Matsuda F, Blanche H, Gut I, Heath S, Lathrop M & Brennan P (2008) A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25. Nature 452, 633-7
2007
Johnson CM, Traherne JA, Jamieson SE, Tremelling M, Bingham S, Parkes M, Blackwell JM & Trowsdale J (2007) Analysis of the BTNL2 truncating splice site mutation in tuberculosis, leprosy and Crohn's disease. Tissue Antigens 69, 236-41
Easton DF, Pooley KA, Dunning AM, Pharoah PDP, Thompson D, Ballinger DG, Struewing JP, Morrison J, Field H, Luben R, Wareham N, Ahmed S, Healey CS, Bowman R, Meyer KB, Haiman CA, Kolonel LK, Henderson BE, Le Marchand L, Brennan P, Sangrajrang S, Gaborieau V, Odefrey F, Shen C-Y, Wu P-E, Wang H-C, Eccles D, D Evans G, Peto J, Fletcher O, Johnson N, Seal S, Stratton MR, Rahman N, Chenevix-Trench G, Bojesen SE, Nordestgaard BG, Axelsson CK, Garcia-Closas M, Brinton L, Chanock S, Lissowska J, Peplonska B, Nevanlinna H, Fagerholm R, Eerola H, Kang D, Yoo K-Y, Noh D-Y, Ahn S-H, Hunter DJ, Hankinson SE, Cox DG, Hall P, Wedren S, Liu J, Low Y-L, Bogdanova N, Schürmann P, Dörk T, Tollenaar RAEM, Jacobi CE, Devilee P, Klijn JGM, Sigurdson AJ, Doody MM, Alexander BH, Zhang J, Cox A, Brock IW, MacPherson G, Reed MWR, Couch FJ, Goode EL, Olson JE, Meijers-Heijboer H, van den Ouweland A, Uitterlinden A, Rivadeneira F, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J, Hopper JL, McCredie M, Southey M, Giles GG, Schroen C, Justenhoven C, Brauch H, Hamann U, Ko Y-D, Spurdle AB, Beesley J, Chen X, Mannermaa A, Kosma V-M, Kataja V, Hartikainen J, Day NE, Cox DR & Ponder BAJ (2007) Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447, 1087-93
Low Y-L, Dunning AM, Dowsett M, Folkerd E, Doody D, Taylor J, Bhaniani A, Luben R, Khaw K-T, Wareham NJ & Bingham SA (2007) Phytoestrogen exposure is associated with circulating sex hormone levels in postmenopausal women and interact with ESR1 and NR1I2 gene variants. Cancer Epidemiol Biomarkers Prev 16, 1009-16
2006
Vaessen SFC, Schaap FG, Kuivenhoven J-A, Groen AK, Hutten BA, S Boekholdt M, Hattori H, Sandhu MS, Bingham SA, Luben R, Palmen JA, Wareham NJ, Humphries SE, Kastelein JJP, Talmud PJ & Khaw K-T (2006) Apolipoprotein A-V, triglycerides and risk of coronary artery disease: the prospective Epic-Norfolk Population Study. J Lipid Res 47, 2064-70
Tiranti V, Briem E, Lamantea E, Mineri R, Papaleo E, De Gioia L, Forlani F, Rinaldo P, Dickson P, Abu-Libdeh B, Cindro-Heberle L, Owaidha M, Jack RM, Christensen E, Burlina A & Zeviani M (2006) ETHE1 mutations are specific to ethylmalonic encephalopathy. J Med Genet 43, 340-6
Mitrou PN, Watson MA, Loktionov AS, Cardwell C, Gunter MJ, Atkin WS, Macklin CP, Cecil T, Bishop TD, Primrose J & Bingham SA (2006) MTHFR (C677T and A1298C) polymorphisms and risk of sporadic distal colorectal adenoma in the UK Flexible Sigmoidoscopy Screening Trial (United Kingdom). Cancer Causes Control 17, 793-801
Low Y-L, Taylor JI, Grace PB, Mulligan AA, Welch AA, Scollen S, Dunning AM, Luben RN, Khaw K-T, Day NE, Wareham NJ & Bingham SA (2006) Phytoestrogen exposure, polymorphisms in COMT, CYP19, ESR1, and SHBG genes, and their associations with prostate cancer risk. Nutr Cancer 56, 31-9

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