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A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
Bertolotto C, Lesueur F, Giuliano S, Strub T, de Lichy M, Bille K, Dessen P, d'Hayer B, Mohamdi H, Remenieras A, Maubec E, de la Fouchardière A, Molinié V, Vabres P, Dalle S, Poulalhon N, Martin-Denavit T, Thomas L, Andry-Benzaquen P, Dupin N, Boitier F, Rossi A, Perrot JL, Labeille B, Robert C, Escudier B, Caron O, Brugières L, Saule S, Gardie B, Gad S, Richard S, Couturier J, Teh BT, Ghiorzo P, Pastorino L, Puig S, Badenas C, Olsson H, Ingvar C, Rouleau E, Lidereau R, Bahadoran P, Vielh P, Corda E, Blanché H, Zelenika D, Galan P; French Familial Melanoma Study Group; Aubin F, Bachollet B, Becuwe C, Berthet P, Bignon YJ, Bonadona V, Bonafe JL, Bonnet-Dupeyron MN, Cambazard F, Chevrant-Breton J, Coupier I, Dalac S, Demange L, d'Incan M, Dugast C, Faivre L, Vincent-Fétita L, Gauthier-Villars M, Gilbert B, Grange F, Grob JJ, Humbert P, Janin N, Joly P, Kerob D, Lasset C, Leroux D, Levang J, Limacher JM, Livideanu C, Longy M, Lortholary A, Stoppa-Lyonnet D, Mansard S, Mansuy L, Marrou K, Matéus C, Maugard C, Meyer N, Nogues C, Souteyrand P, Venat-Bouvet L, Zattara H, Chaudru V, Lenoir GM, Lathrop M, Davidson I, Avril MF, Demenais F, Ballotti R, Bressac-de Paillerets B. Bertolotto C, et al. Among authors: couturier j. Nature. 2011 Oct 19;480(7375):94-8. doi: 10.1038/nature10539. Nature. 2011. PMID: 22012259
Genetic determinants of uveal melanoma.
Couturier J, Saule S. Couturier J, et al. Dev Ophthalmol. 2012;49:150-165. doi: 10.1159/000328270. Epub 2011 Oct 21. Dev Ophthalmol. 2012. PMID: 22042019 Review.
Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
Bertolotto C, Lesueur F, Giuliano S, Strub T, de Lichy M, Bille K, Dessen P, d'Hayer B, Mohamdi H, Remenieras A, Maubec E, de la Fouchardière A, Molinié V, Vabres P, Dalle S, Poulalhon N, Martin-Denavit T, Thomas L, Andry-Benzaquen P, Dupin N, Boitier F, Rossi A, Perrot JL, Labeille B, Robert C, Escudier B, Caron O, Brugières L, Saule S, Gardie B, Gad S, Richard S, Couturier J, Teh BT, Ghiorzo P, Pastorino L, Puig S, Badenas C, Olsson H, Ingvar C, Rouleau E, Lidereau R, Bahadoran P, Vielh P, Corda E, Blanché H, Zelenika D, Galan P; French Familial Melanoma Study Group; Chaudru V, Lenoir GM, Lathrop M, Davidson I, Avril MF, Demenais F, Ballotti R, Bressac-de Paillerets B. Bertolotto C, et al. Among authors: couturier j. Nature. 2016 Mar 3;531(7592):126. doi: 10.1038/nature16158. Epub 2015 Dec 2. Nature. 2016. PMID: 26633630 No abstract available.
Next-generation sequencing of translocation renal cell carcinoma reveals novel RNA splicing partners and frequent mutations of chromatin-remodeling genes.
Malouf GG, Su X, Yao H, Gao J, Xiong L, He Q, Compérat E, Couturier J, Molinié V, Escudier B, Camparo P, Doss DJ, Thompson EJ, Khayat D, Wood CG, Yu W, Teh BT, Weinstein J, Tannir NM. Malouf GG, et al. Among authors: couturier j. Clin Cancer Res. 2014 Aug 1;20(15):4129-40. doi: 10.1158/1078-0432.CCR-13-3036. Epub 2014 Jun 4. Clin Cancer Res. 2014. PMID: 24899691 Free PMC article.
Genomic heterogeneity of translocation renal cell carcinoma.
Malouf GG, Monzon FA, Couturier J, Molinié V, Escudier B, Camparo P, Su X, Yao H, Tamboli P, Lopez-Terrada D, Picken M, Garcia M, Multani AS, Pathak S, Wood CG, Tannir NM. Malouf GG, et al. Among authors: couturier j. Clin Cancer Res. 2013 Sep 1;19(17):4673-84. doi: 10.1158/1078-0432.CCR-12-3825. Epub 2013 Jul 1. Clin Cancer Res. 2013. PMID: 23817689 Free PMC article.
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.
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
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
476 results