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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, Stro… See abstract for full author list ➔ Goodrich JK, et al. Among authors: linneberg a. Nat Commun. 2021 Jun 9;12(1):3505. doi: 10.1038/s41467-021-23556-4. Nat Commun. 2021. PMID: 34108472 Free PMC article.
Homozygous carriers of the G allele of rs4664447 of the glucagon gene (GCG) are characterised by decreased fasting and stimulated levels of insulin, glucagon and glucagon-like peptide (GLP)-1.
Torekov SS, Ma L, Grarup N, Hartmann B, Hainerová IA, Kielgast U, Kissow H, Rosenkilde M; GIANT Consortium; Lebl J, Witte DR, Jørgensen T, Sandbaek A, Lauritzen T, Madsen OD, Wang J, Linneberg A, Madsbad S, Holst JJ, Hansen T, Pedersen O. Torekov SS, et al. Among authors: linneberg a. Diabetologia. 2011 Nov;54(11):2820-31. doi: 10.1007/s00125-011-2265-7. Epub 2011 Aug 7. Diabetologia. 2011. PMID: 21822931
Genome-wide population-based association study of extremely overweight young adults--the GOYA study.
Paternoster L, Evans DM, Nohr EA, Holst C, Gaborieau V, Brennan P, Gjesing AP, Grarup N, Witte DR, Jørgensen T, Linneberg A, Lauritzen T, Sandbaek A, Hansen T, Pedersen O, Elliott KS, Kemp JP, St Pourcain B, McMahon G, Zelenika D, Hager J, Lathrop M, Timpson NJ, Smith GD, Sørensen TI. Paternoster L, et al. Among authors: linneberg a. PLoS One. 2011;6(9):e24303. doi: 10.1371/journal.pone.0024303. Epub 2011 Sep 15. PLoS One. 2011. PMID: 21935397 Free PMC article.
596 results