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399 results

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Page 1
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: desjardins l. 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
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: desjardins l. Hum Mutat. 2007 Mar;28(3):284-93. doi: 10.1002/humu.20443. Hum Mutat. 2007. PMID: 17096365
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: desjardins l. Hum Mutat. 2004 Feb;23(2):193-202. doi: 10.1002/humu.10303. Hum Mutat. 2004. PMID: 14722923
Retinoblastoma.
Aerts I, Lumbroso-Le Rouic L, Gauthier-Villars M, Brisse H, Doz F, Desjardins L. Aerts I, et al. Among authors: desjardins l. Orphanet J Rare Dis. 2006 Aug 25;1:31. doi: 10.1186/1750-1172-1-31. Orphanet J Rare Dis. 2006. PMID: 16934146 Free PMC article. Review.
Germline BAP1 mutations predispose to renal cell carcinomas.
Popova T, Hebert L, Jacquemin V, Gad S, Caux-Moncoutier V, Dubois-d'Enghien C, Richaudeau B, Renaudin X, Sellers J, Nicolas A, Sastre-Garau X, Desjardins L, Gyapay G, Raynal V, Sinilnikova OM, Andrieu N, Manié E, de Pauw A, Gesta P, Bonadona V, Maugard CM, Penet C, Avril MF, Barillot E, Cabaret O, Delattre O, Richard S, Caron O, Benfodda M, Hu HH, Soufir N, Bressac-de Paillerets B, Stoppa-Lyonnet D, Stern MH. Popova T, et al. Among authors: desjardins l. Am J Hum Genet. 2013 Jun 6;92(6):974-80. doi: 10.1016/j.ajhg.2013.04.012. Epub 2013 May 16. Am J Hum Genet. 2013. PMID: 23684012 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: desjardins l. 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 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: desjardins l. Nat Commun. 2021 Sep 22;12(1):5578. doi: 10.1038/s41467-021-25792-0. Nat Commun. 2021. PMID: 34552068 Free PMC article.
Retinoblastoma.
Zucker JM, Desjardins L, Doz F. Zucker JM, et al. Among authors: desjardins l. Eur J Cancer. 1998 Jun;34(7):1045-8; discussion 1048-9. doi: 10.1016/s0959-8049(98)00181-6. Eur J Cancer. 1998. PMID: 9849453 Review. No abstract available.
399 results