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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: van doorn r, van poppelen n. 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.
Chromosomal rearrangements in uveal melanoma: Chromothripsis.
van Poppelen NM, Yavuzyigitoglu S, Smit KN, Vaarwater J, Eussen B, Brands T, Paridaens D, Kiliç E, de Klein A. van Poppelen NM, et al. Genes Chromosomes Cancer. 2018 Sep;57(9):452-458. doi: 10.1002/gcc.4. Epub 2018 Jul 30. Genes Chromosomes Cancer. 2018. PMID: 29726589 Free PMC article.
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.
Chau C, van Doorn R, van Poppelen NM, van der Stoep N, Mensenkamp AR, Sijmons RH, van Paassen BW, van den Ouweland AMW, Naus NC, van der Hout AH, Potjer TP, Bleeker FE, Wevers MR, van Hest LP, Jongmans MCJ, Marinkovic M, Bleeker JC, Jager MJ, Luyten GPM, Nielsen M. Chau C, et al. Among authors: van poppelen nm. Cancers (Basel). 2019 Aug 4;11(8):1114. doi: 10.3390/cancers11081114. Cancers (Basel). 2019. PMID: 31382694 Free PMC article.
Combined mutation and copy-number variation detection by targeted next-generation sequencing in uveal melanoma.
Smit KN, van Poppelen NM, Vaarwater J, Verdijk R, van Marion R, Kalirai H, Coupland SE, Thornton S, Farquhar N, Dubbink HJ, Paridaens D, de Klein A, Kiliç E. Smit KN, et al. Among authors: van poppelen nm, van marion r. Mod Pathol. 2018 May;31(5):763-771. doi: 10.1038/modpathol.2017.187. Epub 2018 Jan 12. Mod Pathol. 2018. PMID: 29327717 Free article.
Multi-Modality Analysis Improves Survival Prediction in Enucleated Uveal Melanoma Patients.
Drabarek W, Yavuzyigitoglu S, Obulkasim A, van Riet J, Smit KN, van Poppelen NM, Vaarwater J, Brands T, Eussen B, Verdijk RM, Naus NC, Mensink HW, Paridaens D, Boersma E, van de Werken HJG, Kilic E, de Klein A; Rotterdam Ocular Melanoma Study Group. Drabarek W, et al. Among authors: van poppelen nm. Invest Ophthalmol Vis Sci. 2019 Aug 1;60(10):3595-3605. doi: 10.1167/iovs.18-24818. Invest Ophthalmol Vis Sci. 2019. PMID: 31425584
Reply.
van Poppelen NM, Vaarwater J, Mudhar HS, Sisley K, van den Bosch QCC, de Klein A, Kiliç E, Verdijk RM. van Poppelen NM, et al. Ophthalmology. 2018 Nov;125(11):e79-e80. doi: 10.1016/j.ophtha.2018.05.022. Ophthalmology. 2018. PMID: 30318045 No abstract available.
18 results