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Page 1
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.
Haraldsdottir S, Rafnar T, Frankel WL, Einarsdottir S, Sigurdsson A, Hampel H, Snaebjornsson P, Masson G, Weng D, Arngrimsson R, Kehr B, Yilmaz A, Haraldsson S, Sulem P, Stefansson T, Shields PG, Sigurdsson F, Bekaii-Saab T, Moller PH, Steinarsdottir M, Alexiusdottir K, Hitchins M, Pritchard CC, de la Chapelle A, Jonasson JG, Goldberg RM, Stefansson K. Haraldsdottir S, et al. Among authors: arngrimsson r. Nat Commun. 2017 May 3;8:14755. doi: 10.1038/ncomms14755. Nat Commun. 2017. PMID: 28466842 Free PMC article.
Universal tumor screening in a population with MSH6- and PMS2-associated Lynch syndrome.
Einarsson H, Runarsdottir JR, Tryggvason T, Snaebjornsson P, Smaradottir A, Stefansdottir V, Thoroddsen A, Arngrimsson R, Jonasson JG, Haraldsdottir S. Einarsson H, et al. Among authors: arngrimsson r. Genet Med. 2022 May;24(5):999-1007. doi: 10.1016/j.gim.2022.01.012. Epub 2022 Feb 13. Genet Med. 2022. PMID: 35172941 Free 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: arngrimsson r. Nat Commun. 2018 Oct 25;9(1):4447. doi: 10.1038/s41467-018-06964-x. Nat Commun. 2018. PMID: 30361506 Free PMC article.
[Ehlers-Danlos syndrome type IV. Case study and clinical findings].
Gudmundsdottir SA, Moller PH, Arngrimsson R. Gudmundsdottir SA, et al. Among authors: arngrimsson r. Laeknabladid. 2012 Jun;98(6):355-9. doi: 10.17992/lbl.2012.06.440. Laeknabladid. 2012. PMID: 22647446 Free article. Review. Icelandic.
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.
Jensson BO, Hansdottir S, Arnadottir GA, Sulem G, Kristjansson RP, Oddsson A, Benonisdottir S, Jonsson H, Helgason A, Saemundsdottir J, Magnusson OT, Masson G, Thorisson GA, Jonasdottir A, Jonasdottir A, Sigurdsson A, Jonsdottir I, Petursdottir V, Kristinsson JR, Gudbjartsson DF, Thorsteinsdottir U, Arngrimsson R, Sulem P, Gudmundsson G, Stefansson K. Jensson BO, et al. Among authors: arngrimsson r. BMC Med Genet. 2017 Nov 14;18(1):129. doi: 10.1186/s12881-017-0490-8. BMC Med Genet. 2017. PMID: 29137621 Free PMC article.
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
Arnadottir GA, Jensson BO, Marelsson SE, Sulem G, Oddsson A, Kristjansson RP, Benonisdottir S, Gudjonsson SA, Masson G, Thorisson GA, Saemundsdottir J, Magnusson OT, Jonasdottir A, Jonasdottir A, Sigurdsson A, Gudbjartsson DF, Thorsteinsdottir U, Arngrimsson R, Sulem P, Stefansson K. Arnadottir GA, et al. Among authors: arngrimsson r. BMC Med Genet. 2017 Oct 2;18(1):103. doi: 10.1186/s12881-017-0466-8. BMC Med Genet. 2017. PMID: 28965491 Free PMC article.
A genome-wide scan reveals a maternal susceptibility locus for pre-eclampsia on chromosome 2p13.
Arngrímsson R, Sigurõardóttir S, Frigge ML, Bjarnadóttir RI, Jónsson T, Stefánsson H, Baldursdóttir A, Einarsdóttir AS, Palsson B, Snorradóttir S, Lachmeijer AM, Nicolae D, Kong A, Bragason BT, Gulcher JR, Geirsson RT, Stefánsson K. Arngrímsson R, et al. Hum Mol Genet. 1999 Sep;8(9):1799-805. doi: 10.1093/hmg/8.9.1799. Hum Mol Genet. 1999. PMID: 10441346
Iceland-genetic counseling services.
Stefansdottir V, Arngrimsson R, Jonsson JJ. Stefansdottir V, et al. Among authors: arngrimsson r. J Genet Couns. 2013 Dec;22(6):907-10. doi: 10.1007/s10897-013-9640-0. Epub 2013 Aug 15. J Genet Couns. 2013. PMID: 23949570
Genetic epidemiologic aspects of gastric cancer in Iceland.
Imsland AK, Eldon BJ, Arinbjarnarson S, Egilsson V, Tulinius H, Tryggvadóttir L, Arngrímsson R, Magnússon J. Imsland AK, et al. Among authors: arngrimsson r. J Am Coll Surg. 2002 Aug;195(2):181-6; discussion 186-7. doi: 10.1016/s1072-7515(02)01215-2. J Am Coll Surg. 2002. PMID: 12168964
53 results