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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: snaebjornsson p. Nat Commun. 2017 May 3;8:14755. doi: 10.1038/ncomms14755. Nat Commun. 2017. PMID: 28466842 Free PMC article.
A squamous cell carcinoma in a young woman with Lynch syndrome.
Adan F, Crijns MB, Dekker E, Bastiaansen BAJ, Lapid O, Snaebjornsson P, Rosenberg EH, van Leerdam ME, Bekkenk MW. Adan F, et al. Among authors: snaebjornsson p. Fam Cancer. 2019 Apr;18(2):193-196. doi: 10.1007/s10689-018-00113-5. Fam Cancer. 2019. PMID: 30560308
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: snaebjornsson p. 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.
96 results