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Common maternal and fetal genetic variants show expected polygenic effects on risk of small- or large-for-gestational-age (SGA or LGA), except in the smallest 3% of babies.
Beaumont RN, Kotecha SJ, Wood AR, Knight BA, Sebert S, McCarthy MI, Hattersley AT, Järvelin MR, Timpson NJ, Freathy RM, Kotecha S. Beaumont RN, et al. Among authors: mccarthy mi. PLoS Genet. 2020 Dec 7;16(12):e1009191. doi: 10.1371/journal.pgen.1009191. eCollection 2020 Dec. PLoS Genet. 2020. PMID: 33284794 Free PMC article.
Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.
Gloyn AL, Weedon MN, Owen KR, Turner MJ, Knight BA, Hitman G, Walker M, Levy JC, Sampson M, Halford S, McCarthy MI, Hattersley AT, Frayling TM. Gloyn AL, et al. Among authors: mccarthy mi. Diabetes. 2003 Feb;52(2):568-72. doi: 10.2337/diabetes.52.2.568. Diabetes. 2003. PMID: 12540637
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
775 results