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A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.
Eloy P, Dehainault C, Sefta M, Aerts I, Doz F, Cassoux N, Lumbroso le Rouic L, Stoppa-Lyonnet D, Radvanyi F, Millot GA, Gauthier-Villars M, Houdayer C. Eloy P, et al. PLoS Genet. 2016 Feb 29;12(2):e1005888. doi: 10.1371/journal.pgen.1005888. eCollection 2016 Feb. PLoS Genet. 2016. PMID: 26925970 Free PMC article.
Genetic testing for breast cancer predisposition.
Gauthier-Villars M, Gad S, Caux V, Pagès S, Blandy C, Stoppa-Lyonnet D. Gauthier-Villars M, et al. Surg Clin North Am. 1999 Oct;79(5):1171-87, xxi. doi: 10.1016/s0039-6109(05)70067-0. Surg Clin North Am. 1999. PMID: 10572557 Review.
Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.
Houdayer C, Gauthier-Villars M, Laugé A, Pagès-Berhouet S, Dehainault C, Caux-Moncoutier V, Karczynski P, Tosi M, Doz F, Desjardins L, Couturier J, Stoppa-Lyonnet D. Houdayer C, et al. Hum Mutat. 2004 Feb;23(2):193-202. doi: 10.1002/humu.10303. Hum Mutat. 2004. PMID: 14722923
[Genetic predisposition and ovarian cancer].
Coupier I, Gauthier-Villars M, This P, Stoppa-Lyonnet D. Coupier I, et al. Rev Prat. 2004 Oct 31;54(16):1757-62. Rev Prat. 2004. PMID: 15630879 Review. French.
Retinoblastoma.
Aerts I, Lumbroso-Le Rouic L, Gauthier-Villars M, Brisse H, Doz F, Desjardins L. Aerts I, et al. Orphanet J Rare Dis. 2006 Aug 25;1:31. doi: 10.1186/1750-1172-1-31. Orphanet J Rare Dis. 2006. PMID: 16934146 Free PMC article. Review.
146 results