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Page 1
Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition.
Le Gall J, Dehainault C, Boutte M, Petitalot A, Caputo SM, Courtois L, Vacher S, Bieche I, Radvanyi F, Pacquement H, Doz F, Lumbroso-Le Rouic L, Gauthier Villars M, Stoppa-Lyonnet D, Lallemand F, Houdayer C, Golmard L. Le Gall J, et al. Among authors: gauthier villars m. J Med Genet. 2023 Dec 21;61(1):78-83. doi: 10.1136/jmg-2022-109105. J Med Genet. 2023. PMID: 37541786
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: gauthier villars m. 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: gauthier villars m. 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.
The survival gene MED4 explains low penetrance retinoblastoma in patients with large RB1 deletion.
Dehainault C, Garancher A, Castéra L, Cassoux N, Aerts I, Doz F, Desjardins L, Lumbroso L, Montes de Oca R, Almouzni G, Stoppa-Lyonnet D, Pouponnot C, Gauthier-Villars M, Houdayer C. Dehainault C, et al. Among authors: gauthier villars m. Hum Mol Genet. 2014 Oct 1;23(19):5243-50. doi: 10.1093/hmg/ddu245. Epub 2014 May 23. Hum Mol Genet. 2014. PMID: 24858910
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: gauthier villars m. 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: gauthier villars m. 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.
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: gauthier villars m. 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
Osteosarcoma without prior retinoblastoma related to RB1 low-penetrance germline pathogenic variants: A novel type of RB1-related hereditary predisposition syndrome?
Imbert-Bouteille M, Gauthier-Villars M, Leroux D, Meunier I, Aerts I, Lumbroso-Le Rouic L, Lejeune S, Delnatte C, Abadie C, Pujol P, Houdayer C, Corsini C. Imbert-Bouteille M, et al. Among authors: gauthier villars m. Mol Genet Genomic Med. 2019 Dec;7(12):e913. doi: 10.1002/mgg3.913. Epub 2019 Sep 30. Mol Genet Genomic Med. 2019. PMID: 31568710 Free PMC article.
Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma.
Salviat F, Gauthier-Villars M, Carton M, Cassoux N, Lumbroso-Le Rouic L, Dehainault C, Levy C, Golmard L, Aerts I, Doz F, Bonnet-Serrano F, Hayek S, Savignoni A, Stoppa-Lyonnet D, Houdayer C. Salviat F, et al. Among authors: gauthier villars m. JAMA Ophthalmol. 2020 Aug 1;138(8):843-850. doi: 10.1001/jamaophthalmol.2020.2100. JAMA Ophthalmol. 2020. PMID: 32556071 Free PMC article.
Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome.
Golmard L, Vasta LM, Duflos V, Corsini C, Dubois d'Enghien C, McMaster ML, Harney LA, Carr AG, Ling A, Dijoud F, Gauthier A, Miettinen M, Cost NG, Gauthier-Villars M, Orbach D, Irtan S, Haouy S, Schultz KA, Stoppa-Lyonnet D, Coupier I, Stewart DR, Sirvent N. Golmard L, et al. Among authors: gauthier villars m, gauthier a. J Med Genet. 2022 Apr;59(4):346-350. doi: 10.1136/jmedgenet-2020-107434. Epub 2021 Mar 29. J Med Genet. 2022. PMID: 33782093 Free PMC article.
143 results