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Page 1
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: michaux d. Hum Mutat. 2011 Mar;32(3):325-34. doi: 10.1002/humu.21414. Epub 2011 Feb 8. Hum Mutat. 2011. PMID: 21120943
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: michaux d. Hum Mutat. 2008 Jul;29(7):975-82. doi: 10.1002/humu.20765. Hum Mutat. 2008. PMID: 18449911
Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.
Caux-Moncoutier V, Pagès-Berhouet S, Michaux D, Asselain B, Castéra L, De Pauw A, Buecher B, Gauthier-Villars M, Stoppa-Lyonnet D, Houdayer C. Caux-Moncoutier V, et al. Among authors: michaux d. Eur J Hum Genet. 2009 Nov;17(11):1471-80. doi: 10.1038/ejhg.2009.89. Epub 2009 May 27. Eur J Hum Genet. 2009. PMID: 19471317 Free PMC article.
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. Among authors: michaux d. 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
Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay.
Castéra L, Dehainault C, Michaux D, Lumbroso-Le Rouic L, Aerts I, Doz F, Pelet A, Couturier J, Stoppa-Lyonnet D, Gauthier-Villars M, Houdayer C. Castéra L, et al. Among authors: michaux d. Eur J Hum Genet. 2013 Apr;21(4):460-4. doi: 10.1038/ejhg.2012.186. Epub 2012 Aug 22. Eur J Hum Genet. 2013. PMID: 22909775 Free PMC article.
Germline mutation in the RAD51B gene confers predisposition to breast cancer.
Golmard L, Caux-Moncoutier V, Davy G, Al Ageeli E, Poirot B, Tirapo C, Michaux D, Barbaroux C, d'Enghien CD, Nicolas A, Castéra L, Sastre-Garau X, Stern MH, Houdayer C, Stoppa-Lyonnet D. Golmard L, et al. Among authors: michaux d. BMC Cancer. 2013 Oct 19;13:484. doi: 10.1186/1471-2407-13-484. BMC Cancer. 2013. PMID: 24139550 Free PMC article.
MDM2 as a modifier gene in retinoblastoma.
Castéra L, Sabbagh A, Dehainault C, Michaux D, Mansuet-Lupo A, Patillon B, Lamar E, Aerts I, Lumbroso-Le Rouic L, Couturier J, Stoppa-Lyonnet D, Gauthier-Villars M, Houdayer C. Castéra L, et al. Among authors: michaux d. J Natl Cancer Inst. 2010 Dec 1;102(23):1805-8. doi: 10.1093/jnci/djq416. Epub 2010 Nov 4. J Natl Cancer Inst. 2010. PMID: 21051655
Mosaicism in clinical practice exemplified by prenatal diagnosis in retinoblastoma.
Castéra L, Gauthier-Villars M, Dehainault C, Michaux D, Benachi A, Lumbroso-Le Rouic L, Stoppa-Lyonnet D, Houdayer C. Castéra L, et al. Among authors: michaux d. Prenat Diagn. 2011 Nov;31(11):1106-8. doi: 10.1002/pd.2837. Epub 2011 Sep 8. Prenat Diagn. 2011. PMID: 21905051 No abstract available.
16 results