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Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.
Service SK, Teslovich TM, Fuchsberger C, Ramensky V, Yajnik P, Koboldt DC, Larson DE, Zhang Q, Lin L, Welch R, Ding L, McLellan MD, O'Laughlin M, Fronick C, Fulton LL, Magrini V, Swift A, Elliott P, Jarvelin MR, Kaakinen M, McCarthy MI, Peltonen L, Pouta A, Bonnycastle LL, Collins FS, Narisu N, Stringham HM, Tuomilehto J, Ripatti S, Fulton RS, Sabatti C, Wilson RK, Boehnke M, Freimer NB. Service SK, et al. Among authors: mccarthy mi. PLoS Genet. 2014 Jan 30;10(1):e1004147. doi: 10.1371/journal.pgen.1004147. eCollection 2014 Jan. PLoS Genet. 2014. PMID: 24497850 Free PMC article.
Metabolic cardiovascular disease risk factors in women with self-reported symptoms of oligomenorrhea and/or hirsutism: Northern Finland Birth Cohort 1966 Study.
Taponen S, Martikainen H, Järvelin MR, Sovio U, Laitinen J, Pouta A, Hartikainen AL, McCarthy MI, Franks S, Paldanius M, Ruokonen A; Northern Finland Birth Cohort 1966 Study. Taponen S, et al. Among authors: mccarthy mi. J Clin Endocrinol Metab. 2004 May;89(5):2114-8. doi: 10.1210/jc.2003-031720. J Clin Endocrinol Metab. 2004. PMID: 15126528
Large-scale analysis of the relationship between CYP11A promoter variation, polycystic ovarian syndrome, and serum testosterone.
Gaasenbeek M, Powell BL, Sovio U, Haddad L, Gharani N, Bennett A, Groves CJ, Rush K, Goh MJ, Conway GS, Ruokonen A, Martikainen H, Pouta A, Taponen S, Hartikainen AL, Halford S, Järvelin MR, Franks S, McCarthy MI. Gaasenbeek M, et al. Among authors: mccarthy mi. J Clin Endocrinol Metab. 2004 May;89(5):2408-13. doi: 10.1210/jc.2003-031640. J Clin Endocrinol Metab. 2004. PMID: 15126571
Analysis of multiple data sets reveals no association between the insulin gene variable number tandem repeat element and polycystic ovary syndrome or related traits.
Powell BL, Haddad L, Bennett A, Gharani N, Sovio U, Groves CJ, Rush K, Goh MJ, Conway GS, Ruokonen A, Martikainen H, Pouta A, Taponen S, Hartikainen AL, Halford S, Zeggini E, Järvelin MR, Franks S, McCarthy MI. Powell BL, et al. Among authors: mccarthy mi. J Clin Endocrinol Metab. 2005 May;90(5):2988-93. doi: 10.1210/jc.2004-2485. Epub 2005 Feb 10. J Clin Endocrinol Metab. 2005. PMID: 15705917
Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels.
Barber TM, Bennett AJ, Gloyn AL, Groves CJ, Sovio U, Ruokonen A, Martikainen H, Pouta A, Taponen S, Weedon MN, Hartikainen AL, Wass JA, Järvelin MR, Zeggini E, Franks S, McCarthy MI. Barber TM, et al. Among authors: mccarthy mi. Eur J Hum Genet. 2007 Jun;15(6):679-84. doi: 10.1038/sj.ejhg.5201802. Epub 2007 Mar 7. Eur J Hum Genet. 2007. PMID: 17342155
Type 2 diabetes TCF7L2 risk genotypes alter birth weight: a study of 24,053 individuals.
Freathy RM, Weedon MN, Bennett A, Hypponen E, Relton CL, Knight B, Shields B, Parnell KS, Groves CJ, Ring SM, Pembrey ME, Ben-Shlomo Y, Strachan DP, Power C, Jarvelin MR, McCarthy MI, Davey Smith G, Hattersley AT, Frayling TM. Freathy RM, et al. Among authors: mccarthy mi. Am J Hum Genet. 2007 Jun;80(6):1150-61. doi: 10.1086/518517. Epub 2007 Apr 23. Am J Hum Genet. 2007. PMID: 17503332 Free PMC article.
Detailed analysis of variation at and around mitochondrial position 16189 in a large Finnish cohort reveals no significant associations with early growth or metabolic phenotypes at age 31 years.
Das S, Bennett AJ, Sovio U, Ruokonen A, Martikainen H, Pouta A, Hartikainen AL, Franks S, Elliott P, Poulton J, Järvelin MR, McCarthy MI. Das S, et al. Among authors: mccarthy mi. J Clin Endocrinol Metab. 2007 Aug;92(8):3219-23. doi: 10.1210/jc.2007-0702. Epub 2007 May 29. J Clin Endocrinol Metab. 2007. PMID: 17535991
A common variant of HMGA2 is associated with adult and childhood height in the general population.
Weedon MN, Lettre G, Freathy RM, Lindgren CM, Voight BF, Perry JR, Elliott KS, Hackett R, Guiducci C, Shields B, Zeggini E, Lango H, Lyssenko V, Timpson NJ, Burtt NP, Rayner NW, Saxena R, Ardlie K, Tobias JH, Ness AR, Ring SM, Palmer CN, Morris AD, Peltonen L, Salomaa V; Diabetes Genetics Initiative; Wellcome Trust Case Control Consortium; Davey Smith G, Groop LC, Hattersley AT, McCarthy MI, Hirschhorn JN, Frayling TM. Weedon MN, et al. Among authors: mccarthy mi. Nat Genet. 2007 Oct;39(10):1245-50. doi: 10.1038/ng2121. Epub 2007 Sep 2. Nat Genet. 2007. PMID: 17767157 Free PMC article.
775 results