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Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.
Walpole S, Pritchard AL, Cebulla CM, Pilarski R, Stautberg M, Davidorf FH, de la Fouchardière A, Cabaret O, Golmard L, Stoppa-Lyonnet D, Garfield E, Njauw CN, Cheung M, Turunen JA, Repo P, Järvinen RS, van Doorn R, Jager MJ, Luyten GPM, Marinkovic M, Chau C, Potrony M, Höiom V, Helgadottir H, Pastorino L, Bruno W, Andreotti V, Dalmasso B, Ciccarese G, Queirolo P, Mastracci L, Wadt K, Kiilgaard JF, Speicher MR, van Poppelen N, Kilic E, Al-Jamal RT, Dianzani I, Betti M, Bergmann C, Santagata S, Dahiya S, Taibjee S, Burke J, Poplawski N, O'Shea SJ, Newton-Bishop J, Adlard J, Adams DJ, Lane AM, Kim I, Klebe S, Racher H, Harbour JW, Nickerson ML, Murali R, Palmer JM, Howlie M, Symmons J, Hamilton H, Warrier S, Glasson W, Johansson P, Robles-Espinoza CD, Ossio R, de Klein A, Puig S, Ghiorzo P, Nielsen M, Kivelä TT, Tsao H, Testa JR, Gerami P, Stern MH, Paillerets BB, Abdel-Rahman MH, Hayward NK. Walpole S, et al. Among authors: helgadottir h. J Natl Cancer Inst. 2018 Dec 1;110(12):1328-1341. doi: 10.1093/jnci/djy171. J Natl Cancer Inst. 2018. PMID: 30517737 Free PMC article. Review.
Profiling of genes expressed in peripheral blood mononuclear cells predicts glucocorticoid sensitivity in asthma patients.
Hakonarson H, Bjornsdottir US, Halapi E, Bradfield J, Zink F, Mouy M, Helgadottir H, Gudmundsdottir AS, Andrason H, Adalsteinsdottir AE, Kristjansson K, Birkisson I, Arnason T, Andresdottir M, Gislason D, Gislason T, Gulcher JR, Stefansson K. Hakonarson H, et al. Among authors: helgadottir h. Proc Natl Acad Sci U S A. 2005 Oct 11;102(41):14789-94. doi: 10.1073/pnas.0409904102. Epub 2005 Oct 3. Proc Natl Acad Sci U S A. 2005. PMID: 16203992 Free PMC article.
Hereditary uveal melanoma: a report of a germline mutation in BAP1.
Höiom V, Edsgärd D, Helgadottir H, Eriksson H, All-Ericsson C, Tuominen R, Ivanova I, Lundeberg J, Emanuelsson O, Hansson J. Höiom V, et al. Among authors: helgadottir h. Genes Chromosomes Cancer. 2013 Apr;52(4):378-84. doi: 10.1002/gcc.22035. Epub 2013 Jan 23. Genes Chromosomes Cancer. 2013. PMID: 23341325
Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations.
Yang XR, Rotunno M, Xiao Y, Ingvar C, Helgadottir H, Pastorino L, van Doorn R, Bennett H, Graham C, Sampson JN, Malasky M, Vogt A, Zhu B, Bianchi-Scarra G, Bruno W, Queirolo P, Fornarini G, Hansson J, Tuominen R, Burdett L, Hicks B, Hutchinson A, Jones K, Yeager M, Chanock SJ, Landi MT, Höiom V, Olsson H, Gruis N, Ghiorzo P, Tucker MA, Goldstein AM. Yang XR, et al. Among authors: helgadottir h. Hum Genet. 2016 Nov;135(11):1241-1249. doi: 10.1007/s00439-016-1715-1. Epub 2016 Jul 23. Hum Genet. 2016. PMID: 27449771 Free PMC article.
The genetics of uveal melanoma: current insights.
Helgadottir H, Höiom V. Helgadottir H, et al. Appl Clin Genet. 2016 Sep 6;9:147-55. doi: 10.2147/TACG.S69210. eCollection 2016. Appl Clin Genet. 2016. PMID: 27660484 Free PMC article. Review.
141 results