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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.
[Transcriptional abnormalities and genetic testing].
Houdayer C, Stoppa-Lyonnet D. Houdayer C, et al. Med Sci (Paris). 2005 Feb;21(2):170-4. doi: 10.1051/medsci/2005212170. Med Sci (Paris). 2005. PMID: 15691488 Free article. Review. French.
A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation.
Dehainault C, Michaux D, Pagès-Berhouet S, Caux-Moncoutier V, Doz F, Desjardins L, Couturier J, Parent P, Stoppa-Lyonnet D, Gauthier-Villars M, Houdayer C. Dehainault C, et al. Eur J Hum Genet. 2007 Apr;15(4):473-7. doi: 10.1038/sj.ejhg.5201787. Epub 2007 Feb 14. Eur J Hum Genet. 2007. PMID: 17299438
489 results