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Page 1
Correlation between RB1germline mutations and second primary malignancies in hereditary retinoblastoma patients treated with external beam radiotherapy.
Chaussade A, Millot G, Wells C, Brisse H, Laé M, Savignoni A, Desjardins L, Dendale R, Doz F, Aerts I, Jimenez I, Cassoux N, Stoppa Lyonnet D, Gauthier Villars M, Houdayer C. Chaussade A, et al. Among authors: houdayer c. Eur J Med Genet. 2019 Mar;62(3):217-223. doi: 10.1016/j.ejmg.2018.07.017. Epub 2018 Jul 18. Eur J Med Genet. 2019. PMID: 30031154
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: houdayer c. 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
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: houdayer c. 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.
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: houdayer c. 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
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: houdayer c. 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.
Histo-genomic stratification reveals the frequent amplification/overexpression of CCNE1 and BRD4 genes in non-BRCAness high grade ovarian carcinoma.
Goundiam O, Gestraud P, Popova T, De la Motte Rouge T, Fourchotte V, Gentien D, Hupé P, Becette V, Houdayer C, Roman-Roman S, Stern MH, Sastre-Garau X. Goundiam O, et al. Among authors: houdayer c. Int J Cancer. 2015 Oct 15;137(8):1890-900. doi: 10.1002/ijc.29568. Epub 2015 Apr 29. Int J Cancer. 2015. PMID: 25892415
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. Among authors: houdayer c. 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.
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: houdayer c. 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.
204 results