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Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor.
Tauziède-Espariat A, Masliah-Planchon J, Brugières L, Puget S, Dufour C, Schneider P, Laquerrière A, Frebourg T, Bodet D, Lechapt-Zalcman E, Pierron G, Delattre O, Varlet P, Bourdeaut F. Tauziède-Espariat A, et al. Among authors: dufour c. Eur J Hum Genet. 2017 Oct;25(10):1170-1172. doi: 10.1038/ejhg.2017.115. Epub 2017 Jul 19. Eur J Hum Genet. 2017. PMID: 28722703 Free PMC article.
Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor.
Bourdeaut F, Lequin D, Brugières L, Reynaud S, Dufour C, Doz F, André N, Stephan JL, Pérel Y, Oberlin O, Orbach D, Bergeron C, Rialland X, Fréneaux P, Ranchere D, Figarella-Branger D, Audry G, Puget S, Evans DG, Pinas JC, Capra V, Mosseri V, Coupier I, Gauthier-Villars M, Pierron G, Delattre O. Bourdeaut F, et al. Among authors: dufour c. Clin Cancer Res. 2011 Jan 1;17(1):31-8. doi: 10.1158/1078-0432.CCR-10-1795. Clin Cancer Res. 2011. PMID: 21208904 Free article.
Prognostic classification of pediatric medulloblastoma based on chromosome 17p loss, expression of MYCC and MYCN, and Wnt pathway activation.
Park AK, Lee SJ, Phi JH, Wang KC, Kim DG, Cho BK, Haberler C, Fattet S, Dufour C, Puget S, Sainte-Rose C, Bourdeaut F, Grill J, Delattre O, Kim SK, Park WY. Park AK, et al. Among authors: dufour c. Neuro Oncol. 2012 Feb;14(2):203-14. doi: 10.1093/neuonc/nor196. Epub 2011 Nov 16. Neuro Oncol. 2012. PMID: 22090452 Free PMC article.
668 results