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Page 1
FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease.
Saevarsdottir S, Olafsdottir TA, Ivarsdottir EV, Halldorsson GH, Gunnarsdottir K, Sigurdsson A, Johannesson A, Sigurdsson JK, Juliusdottir T, Lund SH, Arnthorsson AO, Styrmisdottir EL, Gudmundsson J, Grondal GM, Steinsson K, Alfredsson L, Askling J, Benediktsson R, Bjarnason R, Geirsson AJ, Gudbjornsson B, Gudjonsson H, Hjaltason H, Hreidarsson AB, Klareskog L, Kockum I, Kristjansdottir H, Love TJ, Ludviksson BR, Olsson T, Onundarson PT, Orvar KB, Padyukov L, Sigurgeirsson B, Tragante V, Bjarnadottir K, Rafnar T, Masson G, Sulem P, Gudbjartsson DF, Melsted P, Thorleifsson G, Norddahl GL, Thorsteinsdottir U, Jonsdottir I, Stefansson K. Saevarsdottir S, et al. Among authors: sigurdsson jk, sigurdsson a. Nature. 2020 Aug;584(7822):619-623. doi: 10.1038/s41586-020-2436-0. Epub 2020 Jun 24. Nature. 2020. PMID: 32581359
Discovery of common variants associated with low TSH levels and thyroid cancer risk.
Gudmundsson J, Sulem P, Gudbjartsson DF, Jonasson JG, Masson G, He H, Jonasdottir A, Sigurdsson A, Stacey SN, Johannsdottir H, Helgadottir HT, Li W, Nagy R, Ringel MD, Kloos RT, de Visser MC, Plantinga TS, den Heijer M, Aguillo E, Panadero A, Prats E, Garcia-Castaño A, De Juan A, Rivera F, Walters GB, Bjarnason H, Tryggvadottir L, Eyjolfsson GI, Bjornsdottir US, Holm H, Olafsson I, Kristjansson K, Kristvinsson H, Magnusson OT, Thorleifsson G, Gulcher JR, Kong A, Kiemeney LA, Jonsson T, Hjartarson H, Mayordomo JI, Netea-Maier RT, de la Chapelle A, Hrafnkelsson J, Thorsteinsdottir U, Rafnar T, Stefansson K. Gudmundsson J, et al. Among authors: sigurdsson a. Nat Genet. 2012 Jan 22;44(3):319-22. doi: 10.1038/ng.1046. Nat Genet. 2012. PMID: 22267200 Free PMC article.
Rate of de novo mutations and the importance of father's age to disease risk.
Kong A, Frigge ML, Masson G, Besenbacher S, Sulem P, Magnusson G, Gudjonsson SA, Sigurdsson A, Jonasdottir A, Jonasdottir A, Wong WS, Sigurdsson G, Walters GB, Steinberg S, Helgason H, Thorleifsson G, Gudbjartsson DF, Helgason A, Magnusson OT, Thorsteinsdottir U, Stefansson K. Kong A, et al. Among authors: sigurdsson g, sigurdsson a. Nature. 2012 Aug 23;488(7412):471-5. doi: 10.1038/nature11396. Nature. 2012. PMID: 22914163 Free PMC article.
Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits.
Styrkarsdottir U, Thorleifsson G, Sulem P, Gudbjartsson DF, Sigurdsson A, Jonasdottir A, Jonasdottir A, Oddsson A, Helgason A, Magnusson OT, Walters GB, Frigge ML, Helgadottir HT, Johannsdottir H, Bergsteinsdottir K, Ogmundsdottir MH, Center JR, Nguyen TV, Eisman JA, Christiansen C, Steingrimsson E, Jonasson JG, Tryggvadottir L, Eyjolfsson GI, Theodors A, Jonsson T, Ingvarsson T, Olafsson I, Rafnar T, Kong A, Sigurdsson G, Masson G, Thorsteinsdottir U, Stefansson K. Styrkarsdottir U, et al. Among authors: sigurdsson g, sigurdsson a. Nature. 2013 May 23;497(7450):517-20. doi: 10.1038/nature12124. Epub 2013 May 5. Nature. 2013. PMID: 23644456
Loss-of-function variants in ATM confer risk of gastric cancer.
Helgason H, Rafnar T, Olafsdottir HS, Jonasson JG, Sigurdsson A, Stacey SN, Jonasdottir A, Tryggvadottir L, Alexiusdottir K, Haraldsson A, le Roux L, Gudmundsson J, Johannsdottir H, Oddsson A, Gylfason A, Magnusson OT, Masson G, Jonsson T, Skuladottir H, Gudbjartsson DF, Thorsteinsdottir U, Sulem P, Stefansson K. Helgason H, et al. Among authors: sigurdsson a. Nat Genet. 2015 Aug;47(8):906-10. doi: 10.1038/ng.3342. Epub 2015 Jun 22. Nat Genet. 2015. PMID: 26098866
Diversity in non-repetitive human sequences not found in the reference genome.
Kehr B, Helgadottir A, Melsted P, Jonsson H, Helgason H, Jonasdottir A, Jonasdottir A, Sigurdsson A, Gylfason A, Halldorsson GH, Kristmundsdottir S, Thorgeirsson G, Olafsson I, Holm H, Thorsteinsdottir U, Sulem P, Helgason A, Gudbjartsson DF, Halldorsson BV, Stefansson K. Kehr B, et al. Among authors: sigurdsson a. Nat Genet. 2017 Apr;49(4):588-593. doi: 10.1038/ng.3801. Epub 2017 Feb 27. Nat Genet. 2017. PMID: 28250455
Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis.
Styrkarsdottir U, Helgason H, Sigurdsson A, Norddahl GL, Agustsdottir AB, Reynard LN, Villalvilla A, Halldorsson GH, Jonasdottir A, Magnusdottir A, Oddson A, Sulem G, Zink F, Sveinbjornsson G, Helgason A, Johannsdottir HS, Helgadottir A, Stefansson H, Gretarsdottir S, Rafnar T, Almdahl IS, Brækhus A, Fladby T, Selbæk G, Hosseinpanah F, Azizi F, Koh JM, Tang NLS, Daneshpour MS, Mayordomo JI, Welt C, Braund PS, Samani NJ, Kiemeney LA, Lohmander LS, Christiansen C, Andreassen OA; arcOGEN consortium; Magnusson O, Masson G, Kong A, Jonsdottir I, Gudbjartsson D, Sulem P, Jonsson H, Loughlin J, Ingvarsson T, Thorsteinsdottir U, Stefansson K. Styrkarsdottir U, et al. Among authors: sigurdsson a. Nat Genet. 2017 May;49(5):801-805. doi: 10.1038/ng.3816. Epub 2017 Mar 20. Nat Genet. 2017. PMID: 28319091
Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis.
Sigurdsson S, Alexandersson KF, Sulem P, Feenstra B, Gudmundsdottir S, Halldorsson GH, Olafsson S, Sigurdsson A, Rafnar T, Thorgeirsson T, Sørensen E, Nordholm-Carstensen A, Burcharth J, Andersen J, Jørgensen HS, Possfelt-Møller E, Ullum H, Thorleifsson G, Masson G, Thorsteinsdottir U, Melbye M, Gudbjartsson DF, Stefansson T, Jonsdottir I, Stefansson K. Sigurdsson S, et al. Among authors: sigurdsson a. Nat Commun. 2017 Jun 6;8:15789. doi: 10.1038/ncomms15789. Nat Commun. 2017. PMID: 28585551 Free PMC article.
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.
Arnadottir GA, Norddahl GL, Gudmundsdottir S, Agustsdottir AB, Sigurdsson S, Jensson BO, Bjarnadottir K, Theodors F, Benonisdottir S, Ivarsdottir EV, Oddsson A, Kristjansson RP, Sulem G, Alexandersson KF, Juliusdottir T, Gudmundsson KR, Saemundsdottir J, Jonasdottir A, Jonasdottir A, Sigurdsson A, Manzanillo P, Gudjonsson SA, Thorisson GA, Magnusson OT, Masson G, Orvar KB, Holm H, Bjornsson S, Arngrimsson R, Gudbjartsson DF, Thorsteinsdottir U, Jonsdottir I, Haraldsson A, Sulem P, Stefansson K. Arnadottir GA, et al. Among authors: sigurdsson s, sigurdsson a. Nat Commun. 2018 Oct 25;9(1):4447. doi: 10.1038/s41467-018-06964-x. Nat Commun. 2018. PMID: 30361506 Free PMC article.
Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.
Styrkarsdottir U, Lund SH, Thorleifsson G, Zink F, Stefansson OA, Sigurdsson JK, Juliusson K, Bjarnadottir K, Sigurbjornsdottir S, Jonsson S, Norland K, Stefansdottir L, Sigurdsson A, Sveinbjornsson G, Oddsson A, Bjornsdottir G, Gudmundsson RL, Halldorsson GH, Rafnar T, Jonsdottir I, Steingrimsson E, Norddahl GL, Masson G, Sulem P, Jonsson H, Ingvarsson T, Gudbjartsson DF, Thorsteinsdottir U, Stefansson K. Styrkarsdottir U, et al. Among authors: sigurdsson jk, sigurdsson a. Nat Genet. 2018 Dec;50(12):1681-1687. doi: 10.1038/s41588-018-0247-0. Epub 2018 Oct 29. Nat Genet. 2018. PMID: 30374069
276 results