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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: jonasson jg. Nat Commun. 2017 May 3;8:14755. doi: 10.1038/ncomms14755. Nat Commun. 2017. PMID: 28466842 Free PMC article.
Identification of Lynch syndrome risk variants in the Romanian population.
Iordache PD, Mates D, Gunnarsson B, Eggertsson HP, Sulem P, Benonisdottir S, Csiki IE, Rascu S, Radavoi D, Ursu R, Staicu C, Calota V, Voinoiu A, Jinga M, Rosoga G, Danau R, Sima SC, Badescu D, Suciu N, Radoi V, Mates IN, Dobra M, Nicolae C, Kristjansdottir S, Jonasson JG, Manolescu A, Arnadottir G, Jensson B, Jonasdottir A, Sigurdsson A, le Roux L, Johannsdottir H, Rafnar T, Halldorsson BV, Jinga V, Stefansson K. Iordache PD, et al. Among authors: jonasson jg. J Cell Mol Med. 2018 Dec;22(12):6068-6076. doi: 10.1111/jcmm.13881. Epub 2018 Oct 16. J Cell Mol Med. 2018. PMID: 30324682 Free PMC article.
Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome.
Pearlman R, Haraldsdottir S, de la Chapelle A, Jonasson JG, Liyanarachchi S, Frankel WL, Rafnar T, Stefansson K, Pritchard CC, Hampel H. Pearlman R, et al. Among authors: jonasson jg. J Med Genet. 2019 Jul;56(7):462-470. doi: 10.1136/jmedgenet-2018-105698. Epub 2019 Mar 15. J Med Genet. 2019. PMID: 30877237 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: jonasson jg. 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.
342 results