Publications

Found 37 results
Filters: Keyword is Genetic Predisposition to Disease  [Clear All Filters]
2017
Majander A, Bowman R, Poulton J, Antcliff RJ, M Reddy A, Michaelides M, Webster AR, Chinnery PF, Votruba M, Moore AT & Yu-Wai-Man P (2017) Childhood-onset Leber hereditary optic neuropathy. Br J Ophthalmol 101, 1505-1509
2015
Carelli V, Musumeci O, Caporali L, Zanna C, La Morgia C, Del Dotto V, Porcelli AMaria, Rugolo M, Valentino MLucia, Iommarini L, Maresca A, Barboni P, Carbonelli M, Trombetta C, Valente EMaria, Patergnani S, Giorgi C, Pinton P, Rizzo G, Tonon C, Lodi R, Avoni P, Liguori R, Baruzzi A, Toscano A & Zeviani M (2015) Syndromic parkinsonism and dementia associated with OPA1 missense mutations. Ann Neurol 78, 21-38
2013
Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong L-J, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ & Zeviani M (2013) Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet 93, 482-95
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
2009
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
Crusius JBA, Canzian F, Capellá G, Peña AS, Pera G, Sala N, Agudo A, Rico F, Del Giudice G, Palli D, Plebani M, Boeing H, Bueno-de-Mesquita HB, Carneiro F, Pala V, Save VE, Vineis P, Tumino R, Panico S, Berglund G, Manjer J, Stenling R, Hallmans G, Martinez C, Dorronsoro M, Barricarte A, Navarro C, Quiros JR, Allen N, Key TJ, Binghan S, Caldas C, Linseisen J, Kaaks R, Overvad K, Tjønneland A, Büchner FC, Peeters PHM, Numans ME, Clavel-Chapelon F, Trichopoulou A, Lund E, Jenab M, Rinaldi S, Ferrari P, Riboli E & González CA (2008) Cytokine gene polymorphisms and the risk of adenocarcinoma of the stomach in the European prospective investigation into cancer and nutrition (EPIC-EURGAST). Ann Oncol 19, 1894-902
Capellá G, Pera G, Sala N, Agudo A, Rico F, Del Giudicce G, Plebani M, Palli D, Boeing H, H Bueno-de-Mesquita B, Carneiro F, Berrino F, Vineis P, Tumino R, Panico S, Berglund G, Simán H, Nyrén O, Hallmans G, Martinez C, Dorronsoro M, Barricarte A, Navarro C, Quirós JR, Allen N, Key T, Bingham S, Caldas C, Linseisen J, Nagel G, Overvad K, Tjonneland A, Boshuizen HC, Peeters PHM, Numans ME, Clavel-Chapelon F, Trichopoulou A, Lund, iv E, Jenab M, Kaaks R, Riboli E & González CA (2008) DNA repair polymorphisms and the risk of stomach adenocarcinoma and severe chronic gastritis in the EPIC-EURGAST study. Int J Epidemiol 37, 1316-25
Ghezzi D, Saada A, D'Adamo P, Fernandez-Vizarra E, Gasparini P, Tiranti V, Elpeleg O & Zeviani M (2008) FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. Am J Hum Genet 83, 415-23
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
Wu K, Bowman R, Welch AA, Luben RN, Wareham N, Khaw K-T & Bingham SA (2007) Apolipoprotein E polymorphisms, dietary fat and fibre, and serum lipids: the EPIC Norfolk study. Eur Heart J 28, 2930-6
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
Zeviani M & Carelli V (2007) Mitochondrial disorders. Curr Opin Neurol 20, 564-71
Mitrou PN, Watson MA, Loktionov AS, Cardwell C, Gunter MJ, Atkin WS, Macklin CP, Cecil T, D Bishop T, Primrose J & Bingham SA (2007) Role of NQO1C609T and EPHX1 gene polymorphisms in the association of smoking and alcohol with sporadic distal colorectal adenomas: results from the UKFSS Study. Carcinogenesis 28, 875-82
2006
Tremelling M, Hancock L, Bredin F, Sharpstone D, Bingham SA & Parkes M (2006) Complex insertion/deletion polymorphism in NOD1 (CARD4) is not associated with inflammatory bowel disease susceptibility in East Anglia panel. Inflamm Bowel Dis 12, 967-71
Bugiani M, S Shahwan A, Lamantea E, Bizzi A, Bakhsh E, Moroni I, Balestrini MR, Uziel G & Zeviani M (2006) GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy. Neurology 67, 273-9
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
Tiangyou W, Hudson G, Ghezzi D, Ferrari G, Zeviani M, Burn DJ & Chinnery PF (2006) POLG1 in idiopathic Parkinson disease. Neurology 67, 1698-700
2005
Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G & Bindoff LA (2005) Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology 64, 1204-8
Bingham SA (2005) Measurement error in the assessment of interaction between dietary and genetic factors in cohort studies of cancer. World Rev Nutr Diet 94, 144-51
Ghezzi D, Marelli C, Achilli A, Goldwurm S, Pezzoli G, Barone P, Pellecchia MTeresa, Stanzione P, Brusa L, Bentivoglio ARita, Bonuccelli U, Petrozzi L, Abbruzzese G, Marchese R, Cortelli P, Grimaldi D, Martinelli P, Ferrarese C, Garavaglia B, Sangiorgi S, Carelli V, Torroni A, Albanese A & Zeviani M (2005) Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians. Eur J Hum Genet 13, 748-52
2004
Loktionov A (2004) Common gene polymorphisms, cancer progression and prognosis. Cancer Lett 208, 1-33

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