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Page 1
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. Among authors: lauge a. Hum Mutat. 2004 Feb;23(2):193-202. doi: 10.1002/humu.10303. Hum Mutat. 2004. PMID: 14722923
Evaluation of in silico splice tools for decision-making in molecular diagnosis.
Houdayer C, Dehainault C, Mattler C, Michaux D, Caux-Moncoutier V, Pagès-Berhouet S, d'Enghien CD, Laugé A, Castera L, Gauthier-Villars M, Stoppa-Lyonnet D. Houdayer C, et al. Among authors: lauge a. Hum Mutat. 2008 Jul;29(7):975-82. doi: 10.1002/humu.20765. Hum Mutat. 2008. PMID: 18449911
EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.
Caux-Moncoutier V, Castéra L, Tirapo C, Michaux D, Rémon MA, Laugé A, Rouleau E, De Pauw A, Buecher B, Gauthier-Villars M, Viovy JL, Stoppa-Lyonnet D, Houdayer C. Caux-Moncoutier V, et al. Among authors: lauge a. Hum Mutat. 2011 Mar;32(3):325-34. doi: 10.1002/humu.21414. Epub 2011 Feb 8. Hum Mutat. 2011. PMID: 21120943
Mosaicism and prenatal diagnosis options: insights from retinoblastoma.
Dehainault C, Golmard L, Millot GA, Charpin A, Laugé A, Tarabeux J, Aerts I, Cassoux N, Stoppa-Lyonnet D, Gauthier-Villars M, Houdayer C. Dehainault C, et al. Among authors: lauge a. Eur J Hum Genet. 2017 Feb;25(3):381-383. doi: 10.1038/ejhg.2016.174. Epub 2016 Dec 21. Eur J Hum Genet. 2017. PMID: 28000698 Free PMC article.
Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations.
Golmard L, Delnatte C, Laugé A, Moncoutier V, Lefol C, Abidallah K, Tenreiro H, Copigny F, Giraudeau M, Guy C, Barbaroux C, Amorim G, Briaux A, Guibert V, Tarabeux J, Caputo S, Collet A, Gesta P, Ingster O, Stern MH, Rouleau E, de Pauw A, Gauthier-Villars M, Buecher B, Bézieau S, Stoppa-Lyonnet D, Houdayer C. Golmard L, et al. Among authors: lauge a. Oncogene. 2016 Mar 10;35(10):1324-7. doi: 10.1038/onc.2015.181. Epub 2015 Jun 1. Oncogene. 2016. PMID: 26028024
Three new BLM gene mutations associated with Bloom syndrome.
Amor-Guéret M, Dubois-d'Enghien C, Laugé A, Onclercq-Delic R, Barakat A, Chadli E, Bousfiha AA, Benjelloun M, Flori E, Doray B, Laugel V, Lourenço MT, Gonçalves R, Sousa S, Couturier J, Stoppa-Lyonnet D. Amor-Guéret M, et al. Among authors: lauge a. Genet Test. 2008 Jun;12(2):257-61. doi: 10.1089/gte.2007.0119. Genet Test. 2008. PMID: 18471088
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