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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK, Singer-Berk M, Son R, Sveden A, Wood J, England E, Cole JB, Weisburd B, Watts N, Caulkins L, Dornbos P, Koesterer R, Zappala Z, Zhang H, Maloney KA, Dahl A, Aguilar-Salinas CA, Atzmon G, Barajas-Olmos F, Barzilai N, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Bowden DW, Centeno-Cruz F, Chambers JC, Chami N, Chan E, Chan J, Cheng CY, Cho YS, Contreras-Cubas C, Córdova E, Correa A, DeFronzo RA, Duggirala R, Dupuis J, Garay-Sevilla ME, García-Ortiz H, Gieger C, Glaser B, González-Villalpando C, Gonzalez ME, Grarup N, Groop L, Gross M, Haiman C, Han S, Hanis CL, Hansen T, Heard-Costa NL, Henderson BE, Hernandez JMM, Hwang MY, Islas-Andrade S, Jørgensen ME, Kang HM, Kim BJ, Kim YJ, Koistinen HA, Kooner JS, Kuusisto J, Kwak SH, Laakso M, Lange L, Lee JY, Lee J, Lehman DM, Linneberg A, Liu J, Loos RJF, Lyssenko V, Ma RCW, Martínez-Hernández A, Meigs JB, Meitinger T, Mendoza-Caamal E, Mohlke KL, Morris AD, Morrison AC, Ng MCY, Nilsson PM, O'Donnell CJ, Orozco L, Palmer CNA, Park KS, Post WS, Pedersen O, Preuss M, Psaty BM, Reiner AP, Revilla-Monsalve C, Rich SS, Rotter JI, Saleheen D, Schurmann C, Sim X, Sladek R, Small KS, So WY, Spector TD, Strauch K, Strom TM, T… See abstract for full author list ➔ Goodrich JK, et al. Among authors: tuomilehto j. Nat Commun. 2021 Jun 9;12(1):3505. doi: 10.1038/s41467-021-23556-4. Nat Commun. 2021. PMID: 34108472 Free PMC article.
The G-250A promoter polymorphism of the hepatic lipase gene predicts the conversion from impaired glucose tolerance to type 2 diabetes mellitus: the Finnish Diabetes Prevention Study.
Todorova B, Kubaszek A, Pihlajamäki J, Lindström J, Eriksson J, Valle TT, Hämäläinen H, Ilanne-Parikka P, Keinänen-Kiukaanniemi S, Tuomilehto J, Uusitupa M, Laakso M; Finnish Diabetes Prevention Study. Todorova B, et al. Among authors: tuomilehto j. J Clin Endocrinol Metab. 2004 May;89(5):2019-23. doi: 10.1210/jc.2003-031325. J Clin Endocrinol Metab. 2004. PMID: 15126514 Clinical Trial.
Polymorphisms in the SLC2A2 (GLUT2) gene are associated with the conversion from impaired glucose tolerance to type 2 diabetes: the Finnish Diabetes Prevention Study.
Laukkanen O, Lindström J, Eriksson J, Valle TT, Hämäläinen H, Ilanne-Parikka P, Keinänen-Kiukaanniemi S, Tuomilehto J, Uusitupa M, Laakso M; Finnish Diabetes Prevention Study. Laukkanen O, et al. Among authors: tuomilehto j. Diabetes. 2005 Jul;54(7):2256-60. doi: 10.2337/diabetes.54.7.2256. Diabetes. 2005. PMID: 15983230
Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns.
Mohlke KL, Jackson AU, Scott LJ, Peck EC, Suh YD, Chines PS, Watanabe RM, Buchanan TA, Conneely KN, Erdos MR, Narisu N, Enloe S, Valle TT, Tuomilehto J, Bergman RN, Boehnke M, Collins FS. Mohlke KL, et al. Among authors: tuomilehto j. Hum Genet. 2005 Nov;118(2):245-54. doi: 10.1007/s00439-005-0046-4. Epub 2005 Nov 15. Hum Genet. 2005. PMID: 16142453 Free article.
Tag SNP selection for Finnish individuals based on the CEPH Utah HapMap database.
Willer CJ, Scott LJ, Bonnycastle LL, Jackson AU, Chines P, Pruim R, Bark CW, Tsai YY, Pugh EW, Doheny KF, Kinnunen L, Mohlke KL, Valle TT, Bergman RN, Tuomilehto J, Collins FS, Boehnke M. Willer CJ, et al. Among authors: tuomilehto j. Genet Epidemiol. 2006 Feb;30(2):180-90. doi: 10.1002/gepi.20131. Genet Epidemiol. 2006. PMID: 16374835 Free article.
Common variants in maturity-onset diabetes of the young genes contribute to risk of type 2 diabetes in Finns.
Bonnycastle LL, Willer CJ, Conneely KN, Jackson AU, Burrill CP, Watanabe RM, Chines PS, Narisu N, Scott LJ, Enloe ST, Swift AJ, Duren WL, Stringham HM, Erdos MR, Riebow NL, Buchanan TA, Valle TT, Tuomilehto J, Bergman RN, Mohlke KL, Boehnke M, Collins FS. Bonnycastle LL, et al. Among authors: tuomilehto j. Diabetes. 2006 Sep;55(9):2534-40. doi: 10.2337/db06-0178. Diabetes. 2006. PMID: 16936201 Free article.
IL6 gene promoter polymorphisms and type 2 diabetes: joint analysis of individual participants' data from 21 studies.
Huth C, Heid IM, Vollmert C, Gieger C, Grallert H, Wolford JK, Langer B, Thorand B, Klopp N, Hamid YH, Pedersen O, Hansen T, Lyssenko V, Groop L, Meisinger C, Döring A, Löwel H, Lieb W, Hengstenberg C, Rathmann W, Martin S, Stephens JW, Ireland H, Mather H, Miller GJ, Stringham HM, Boehnke M, Tuomilehto J, Boeing H, Möhlig M, Spranger J, Pfeiffer A, Wernstedt I, Niklason A, López-Bermejo A, Fernández-Real JM, Hanson RL, Gallart L, Vendrell J, Tsiavou A, Hatziagelaki E, Humphries SE, Wichmann HE, Herder C, Illig T. Huth C, et al. Among authors: tuomilehto j. Diabetes. 2006 Oct;55(10):2915-21. doi: 10.2337/db06-0600. Diabetes. 2006. PMID: 17003362
1,560 results