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An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential of early cardiovascular disease intervention.
Jørsboe E, Andersen MK, Skotte L, Stæger FF, Færgeman NJ, Hanghøj K, Santander CG, Senftleber NK, Diaz LJ, Overvad M, Waples RK, Geller F, Bjerregaard P, Melbye M, Larsen CVL, Feenstra B, Anders Koch, Jørgensen ME, Grarup N, Moltke I, Albrechtsen A, Hansen T. Jørsboe E, et al. Among authors: skotte l. HGG Adv. 2022 Jun 9;3(4):100118. doi: 10.1016/j.xhgg.2022.100118. eCollection 2022 Oct 13. HGG Adv. 2022. PMID: 36267056 Free PMC article.
Familial aggregation and heritability of pyloric stenosis.
Krogh C, Fischer TK, Skotte L, Biggar RJ, Øyen N, Skytthe A, Goertz S, Christensen K, Wohlfahrt J, Melbye M. Krogh C, et al. Among authors: skotte l. JAMA. 2010 Jun 16;303(23):2393-9. doi: 10.1001/jama.2010.784. JAMA. 2010. PMID: 20551410
Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.
Albrechtsen A, Grarup N, Li Y, Sparsø T, Tian G, Cao H, Jiang T, Kim SY, Korneliussen T, Li Q, Nie C, Wu R, Skotte L, Morris AP, Ladenvall C, Cauchi S, Stančáková A, Andersen G, Astrup A, Banasik K, Bennett AJ, Bolund L, Charpentier G, Chen Y, Dekker JM, Doney AS, Dorkhan M, Forsen T, Frayling TM, Groves CJ, Gui Y, Hallmans G, Hattersley AT, He K, Hitman GA, Holmkvist J, Huang S, Jiang H, Jin X, Justesen JM, Kristiansen K, Kuusisto J, Lajer M, Lantieri O, Li W, Liang H, Liao Q, Liu X, Ma T, Ma X, Manijak MP, Marre M, Mokrosiński J, Morris AD, Mu B, Nielsen AA, Nijpels G, Nilsson P, Palmer CN, Rayner NW, Renström F, Ribel-Madsen R, Robertson N, Rolandsson O, Rossing P, Schwartz TW; D.E.S.I.R. Study Group; Slagboom PE, Sterner M; DIAGRAM Consortium; Tang M, Tarnow L, Tuomi T, van't Riet E, van Leeuwen N, Varga TV, Vestmar MA, Walker M, Wang B, Wang Y, Wu H, Xi F, Yengo L, Yu C, Zhang X, Zhang J, Zhang Q, Zhang W, Zheng H, Zhou Y, Altshuler D, 't Hart LM, Franks PW, Balkau B, Froguel P, McCarthy MI, Laakso M, Groop L, Christensen C, Brandslund I, Lauritzen T, Witte DR, Linneberg A, Jørgensen T, Hansen T, Wang J, Nielsen R, Pedersen O. Albrechtsen A, et al. Among authors: skotte l. Diabetologia. 2013 Feb;56(2):298-310. doi: 10.1007/s00125-012-2756-1. Epub 2012 Nov 19. Diabetologia. 2013. PMID: 23160641 Free PMC article.
Greenlandic Inuit show genetic signatures of diet and climate adaptation.
Fumagalli M, Moltke I, Grarup N, Racimo F, Bjerregaard P, Jørgensen ME, Korneliussen TS, Gerbault P, Skotte L, Linneberg A, Christensen C, Brandslund I, Jørgensen T, Huerta-Sánchez E, Schmidt EB, Pedersen O, Hansen T, Albrechtsen A, Nielsen R. Fumagalli M, et al. Among authors: skotte l. Science. 2015 Sep 18;349(6254):1343-7. doi: 10.1126/science.aab2319. Science. 2015. PMID: 26383953 Free article.
Strabismus Incidence in a Danish Population-Based Cohort of Children.
Torp-Pedersen T, Boyd HA, Skotte L, Haargaard B, Wohlfahrt J, Holmes JM, Melbye M. Torp-Pedersen T, et al. Among authors: skotte l. JAMA Ophthalmol. 2017 Oct 1;135(10):1047-1053. doi: 10.1001/jamaophthalmol.2017.3158. JAMA Ophthalmol. 2017. PMID: 28859196 Free PMC article.
Maternal and fetal genetic contribution to gestational weight gain.
Warrington NM, Richmond R, Fenstra B, Myhre R, Gaillard R, Paternoster L, Wang CA, Beaumont RN, Das S, Murcia M, Barton SJ, Espinosa A, Thiering E, Atalay M, Pitkänen N, Ntalla I, Jonsson AE, Freathy R, Karhunen V, Tiesler CMT, Allard C, Crawford A, Ring SM, Melbye M, Magnus P, Rivadeneira F, Skotte L, Hansen T, Marsh J, Guxens M, Holloway JW, Grallert H, Jaddoe VWV, Lowe WL Jr, Roumeliotaki T, Hattersley AT, Lindi V, Pahkala K, Panoutsopoulou K, Standl M, Flexeder C, Bouchard L, Aagaard Nohr E, Marina LS, Kogevinas M, Niinikoski H, Dedoussis G, Heinrich J, Reynolds RM, Lakka T, Zeggini E, Raitakari OT, Chatzi L, Inskip HM, Bustamante M, Hivert MF, Jarvelin MR, Sørensen TIA, Pennell C, Felix JF, Jacobsson B, Geller F, Evans DM, Lawlor DA. Warrington NM, et al. Among authors: skotte l. Int J Obes (Lond). 2018 Apr;42(4):775-784. doi: 10.1038/ijo.2017.248. Epub 2017 Oct 9. Int J Obes (Lond). 2018. PMID: 28990592 Free PMC article.
Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.
Fadista J, Lund M, Skotte L, Geller F, Nandakumar P, Chatterjee S, Matsson H, Granström AL, Wester T, Salo P, Virtanen V, Carstensen L, Bybjerg-Grauholm J, Hougaard DM, Pakarinen M, Perola M, Nordenskjöld A, Chakravarti A, Melbye M, Feenstra B. Fadista J, et al. Among authors: skotte l. Eur J Hum Genet. 2018 Apr;26(4):561-569. doi: 10.1038/s41431-017-0053-7. Epub 2018 Jan 29. Eur J Hum Genet. 2018. PMID: 29379196 Free PMC article.
35 results