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Page 1
Genotype-phenotype correlations in hereditary familial retinoblastoma.
Taylor M, Dehainault C, Desjardins L, Doz F, Levy C, Sastre X, Couturier J, Stoppa-Lyonnet D, Houdayer C, Gauthier-Villars M. Taylor M, et al. Among authors: couturier j. Hum Mutat. 2007 Mar;28(3):284-93. doi: 10.1002/humu.20443. Hum Mutat. 2007. PMID: 17096365
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: couturier j. 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
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: couturier j. 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: couturier j. 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.
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: couturier j. Hum Mutat. 2004 Feb;23(2):193-202. doi: 10.1002/humu.10303. Hum Mutat. 2004. PMID: 14722923
A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression.
Liu J, Ottaviani D, Sefta M, Desbrousses C, Chapeaublanc E, Aschero R, Sirab N, Lubieniecki F, Lamas G, Tonon L, Dehainault C, Hua C, Fréneaux P, Reichman S, Karboul N, Biton A, Mirabal-Ortega L, Larcher M, Brulard C, Arrufat S, Nicolas A, Elarouci N, Popova T, Némati F, Decaudin D, Gentien D, Baulande S, Mariani O, Dufour F, Guibert S, Vallot C, Rouic LL, Matet A, Desjardins L, Pascual-Pasto G, Suñol M, Catala-Mora J, Llano GC, Couturier J, Barillot E, Schaiquevich P, Gauthier-Villars M, Stoppa-Lyonnet D, Golmard L, Houdayer C, Brisse H, Bernard-Pierrot I, Letouzé E, Viari A, Saule S, Sastre-Garau X, Doz F, Carcaboso AM, Cassoux N, Pouponnot C, Goureau O, Chantada G, de Reyniès A, Aerts I, Radvanyi F. Liu J, et al. Among authors: couturier j. Nat Commun. 2021 Sep 22;12(1):5578. doi: 10.1038/s41467-021-25792-0. Nat Commun. 2021. PMID: 34552068 Free PMC article.
Genome-wide profiling is a clinically relevant and affordable prognostic test in posterior uveal melanoma.
Cassoux N, Rodrigues MJ, Plancher C, Asselain B, Levy-Gabriel C, Lumbroso-Le Rouic L, Piperno-Neumann S, Dendale R, Sastre X, Desjardins L, Couturier J. Cassoux N, et al. Among authors: couturier j. Br J Ophthalmol. 2014 Jun;98(6):769-74. doi: 10.1136/bjophthalmol-2013-303867. Epub 2013 Oct 29. Br J Ophthalmol. 2014. PMID: 24169649 Free PMC article.
476 results