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Page 1
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: frebourg t. 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.
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.
Trochet D, Bourdeaut F, Janoueix-Lerosey I, Deville A, de Pontual L, Schleiermacher G, Coze C, Philip N, Frébourg T, Munnich A, Lyonnet S, Delattre O, Amiel J. Trochet D, et al. Among authors: frebourg t. Am J Hum Genet. 2004 Apr;74(4):761-4. doi: 10.1086/383253. Epub 2004 Mar 11. Am J Hum Genet. 2004. PMID: 15024693 Free PMC article.
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma.
Janoueix-Lerosey I, Lequin D, Brugières L, Ribeiro A, de Pontual L, Combaret V, Raynal V, Puisieux A, Schleiermacher G, Pierron G, Valteau-Couanet D, Frebourg T, Michon J, Lyonnet S, Amiel J, Delattre O. Janoueix-Lerosey I, et al. Among authors: frebourg t. Nature. 2008 Oct 16;455(7215):967-70. doi: 10.1038/nature07398. Nature. 2008. PMID: 18923523
Transmission of germline TP53 mutations from male carriers to female partners.
Patrier-Sallebert S, Bougeard G, Baert-Desurmont S, Lamy A, Flaman JM, Mansuy L, Bronner M, Lasset C, Brugières L, Golfier F, Frebourg T. Patrier-Sallebert S, et al. Among authors: frebourg t. J Med Genet. 2015 Mar;52(3):145-6. doi: 10.1136/jmedgenet-2014-102853. Epub 2015 Jan 22. J Med Genet. 2015. PMID: 25612911 No abstract available.
Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.
Renaux-Petel M, Charbonnier F, Théry JC, Fermey P, Lienard G, Bou J, Coutant S, Vezain M, Kasper E, Fourneaux S, Manase S, Blanluet M, Leheup B, Mansuy L, Champigneulle J, Chappé C, Longy M, Sévenet N, Paillerets BB, Guerrini-Rousseau L, Brugières L, Caron O, Sabourin JC, Tournier I, Baert-Desurmont S, Frébourg T, Bougeard G. Renaux-Petel M, et al. Among authors: frebourg t. J Med Genet. 2018 Mar;55(3):173-180. doi: 10.1136/jmedgenet-2017-104976. Epub 2017 Oct 25. J Med Genet. 2018. PMID: 29070607
Rhabdomyosarcoma associated with germline TP53 alteration in children and adolescents: The French experience.
Pondrom M, Bougeard G, Karanian M, Bonneau-Lagacherie J, Boulanger C, Boutroux H, Briandet C, Chevreau C, Corradini N, Coze C, Defachelles AS, Galmiche-Roland L, Orbach D, Piguet C, Scoazec JY, Vérité C, Willems M, Frebourg T, Minard V, Brugières L. Pondrom M, et al. Among authors: frebourg t. Pediatr Blood Cancer. 2020 Sep;67(9):e28486. doi: 10.1002/pbc.28486. Epub 2020 Jul 13. Pediatr Blood Cancer. 2020. PMID: 32658383 Clinical Trial.
401 results