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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: houdayer c. Nat Commun. 2021 Sep 22;12(1):5578. doi: 10.1038/s41467-021-25792-0. Nat Commun. 2021. PMID: 34552068 Free PMC article.
[Transcriptional abnormalities and genetic testing].
Houdayer C, Stoppa-Lyonnet D. Houdayer C, et al. Med Sci (Paris). 2005 Feb;21(2):170-4. doi: 10.1051/medsci/2005212170. Med Sci (Paris). 2005. PMID: 15691488 Free article. Review. French.
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: houdayer c. 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: 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.
199 results