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Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity.
Mbarek H, Gordon SD, Duffy DL, Hubers N, Mortlock S, Beck JJ, Hottenga JJ, Pool R, Dolan CV, Actkins KV, Gerring ZF, Van Dongen J, Ehli EA, Iacono WG, Mcgue M, Chasman DI, Gallagher CS, Schilit SLP, Morton CC, Paré G, Willemsen G, Whiteman DC, Olsen CM, Derom C, Vlietinck R, Gudbjartsson D, Cannon-Albright L, Krapohl E, Plomin R, Magnusson PKE, Pedersen NL, Hysi P, Mangino M, Spector TD, Palviainen T, Milaneschi Y, Penninnx BW, Campos AI, Ong KK, Perry JRB, Lambalk CB, Kaprio J, Ólafsson Í, Duroure K, Revenu C, Rentería ME, Yengo L, Davis L, Derks EM, Medland SE, Stefansson H, Stefansson K, Del Bene F, Reversade B, Montgomery GW, Boomsma DI, Martin NG. Mbarek H, et al. Among authors: duroure k. Hum Reprod. 2024 Jan 5;39(1):240-257. doi: 10.1093/humrep/dead247. Hum Reprod. 2024. PMID: 38052102 Free PMC article.
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
Ziegler A, Duclaux-Loras R, Revenu C, Charbit-Henrion F, Begue B, Duroure K, Grimaud L, Guihot AL, Desquiret-Dumas V, Zarhrate M, Cagnard N, Mas E, Breton A, Edouard T, Billon C, Frank M, Colin E, Lenaers G, Henrion D, Lyonnet S, Faivre L, Alembik Y, Philippe A, Moulin B, Reinstein E, Tzur S, Attali R, McGillivray G, White SM, Gallacher L, Kutsche K, Schneeberger P, Girisha KM, Nayak SS, Pais L, Maroofian R, Rad A, Vona B, Karimiani EG, Lekszas C, Haaf T, Martin L, Ruemmele F, Bonneau D, Cerf-Bensussan N, Del Bene F, Parlato M. Ziegler A, et al. Among authors: duroure k. Am J Hum Genet. 2021 Jun 3;108(6):1126-1137. doi: 10.1016/j.ajhg.2021.04.020. Epub 2021 May 18. Am J Hum Genet. 2021. PMID: 34010604 Free PMC article.
15 results