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Page 1
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants.
Puntervoll HE, Yang XR, Vetti HH, Bachmann IM, Avril MF, Benfodda M, Catricalà C, Dalle S, Duval-Modeste AB, Ghiorzo P, Grammatico P, Harland M, Hayward NK, Hu HH, Jouary T, Martin-Denavit T, Ozola A, Palmer JM, Pastorino L, Pjanova D, Soufir N, Steine SJ, Stratigos AJ, Thomas L, Tinat J, Tsao H, Veinalde R, Tucker MA, Bressac-de Paillerets B, Newton-Bishop JA, Goldstein AM, Akslen LA, Molven A. Puntervoll HE, et al. Among authors: benfodda m. J Med Genet. 2013 Apr;50(4):264-70. doi: 10.1136/jmedgenet-2012-101455. Epub 2013 Feb 5. J Med Genet. 2013. PMID: 23384855 Free PMC article.
Germline BAP1 mutations predispose to renal cell carcinomas.
Popova T, Hebert L, Jacquemin V, Gad S, Caux-Moncoutier V, Dubois-d'Enghien C, Richaudeau B, Renaudin X, Sellers J, Nicolas A, Sastre-Garau X, Desjardins L, Gyapay G, Raynal V, Sinilnikova OM, Andrieu N, Manié E, de Pauw A, Gesta P, Bonadona V, Maugard CM, Penet C, Avril MF, Barillot E, Cabaret O, Delattre O, Richard S, Caron O, Benfodda M, Hu HH, Soufir N, Bressac-de Paillerets B, Stoppa-Lyonnet D, Stern MH. Popova T, et al. Among authors: benfodda m. Am J Hum Genet. 2013 Jun 6;92(6):974-80. doi: 10.1016/j.ajhg.2013.04.012. Epub 2013 May 16. Am J Hum Genet. 2013. PMID: 23684012 Free PMC article.
Truncating mutations of TP53AIP1 gene predispose to cutaneous melanoma.
Benfodda M, Gazal S, Descamps V, Basset-Seguin N, Deschamps L, Thomas L, Lebbe C, Saiag P, Zanetti R, Sacchetto L, Chiorino G, Scatolini M, Grandchamp B, Bensussan A, Soufir N. Benfodda M, et al. Genes Chromosomes Cancer. 2018 Jun;57(6):294-303. doi: 10.1002/gcc.22528. Epub 2018 Feb 21. Genes Chromosomes Cancer. 2018. PMID: 29359367
Genes involved in the WNT and vesicular trafficking pathways are associated with melanoma predisposition.
Ibarrola-Villava M, Kumar R, Nagore E, Benfodda M, Guedj M, Gazal S, Hu HH, Guan J, Rachkonda PS, Descamps V, Basset-Seguin N, Bensussan A, Bagot M, Saiag P, Schadendorf D, Martin-Gonzalez M, Mayor M, Grandchamp B, Ribas G, Soufir N. Ibarrola-Villava M, et al. Among authors: benfodda m. Int J Cancer. 2015 May 1;136(9):2109-19. doi: 10.1002/ijc.29257. Epub 2014 Oct 24. Int J Cancer. 2015. PMID: 25303718
Clinical and genetic characteristics of xeroderma pigmentosum in Nepal.
Espi P, Parajuli S, Benfodda M, Lebre AS, Paudel U, Grange A, Grybek V, Grange T, Soufir N, Grange F. Espi P, et al. Among authors: benfodda m. J Eur Acad Dermatol Venereol. 2018 May;32(5):832-839. doi: 10.1111/jdv.14717. Epub 2017 Dec 18. J Eur Acad Dermatol Venereol. 2018. PMID: 29178624
Vismodegib resistant mutations are not selected in multifocal relapses of locally advanced basal cell carcinoma after vismodegib discontinuation.
Ighilahriz M, Benfodda M, Sharpe H, Soufir N, Mourah S, Dumaz N, Battistella M, Savina A, Bouquet F, Nikolaev S, Basset-Seguin N. Ighilahriz M, et al. Among authors: benfodda m. J Eur Acad Dermatol Venereol. 2019 Nov;33(11):e422-e424. doi: 10.1111/jdv.15741. Epub 2019 Jul 15. J Eur Acad Dermatol Venereol. 2019. PMID: 31187903 No abstract available.