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Page 1
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: soufir n. 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: soufir n. 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.
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.
Soufir N, Ged C, Bourillon A, Austerlitz F, Chemin C, Stary A, Armier J, Pham D, Khadir K, Roume J, Hadj-Rabia S, Bouadjar B, Taieb A, de Verneuil H, Benchiki H, Grandchamp B, Sarasin A. Soufir N, et al. J Invest Dermatol. 2010 Jun;130(6):1537-42. doi: 10.1038/jid.2009.409. Epub 2010 Jan 7. J Invest Dermatol. 2010. PMID: 20054342 Free 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. Among authors: soufir n. Genes Chromosomes Cancer. 2018 Jun;57(6):294-303. doi: 10.1002/gcc.22528. Epub 2018 Feb 21. Genes Chromosomes Cancer. 2018. PMID: 29359367
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: soufir n. 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.
80 results