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149 results

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Page 1
Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome.
Bougeard G, Limacher JM, Martin C, Charbonnier F, Killian A, Delattre O, Longy M, Jonveaux P, Fricker JP, Stoppa-Lyonnet D, Flaman JM, Frébourg T. Bougeard G, et al. Among authors: charbonnier f. J Med Genet. 2001 Apr;38(4):253-7. doi: 10.1136/jmg.38.4.253. J Med Genet. 2001. PMID: 11370630 Free PMC article. 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: charbonnier f. 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
Blood functional assay for rapid clinical interpretation of germline TP53 variants.
Raad S, Rolain M, Coutant S, Derambure C, Lanos R, Charbonnier F, Bou J, Bouvignies E, Lienard G, Vasseur S, Farrell M, Ingster O, Baert Desurmont S, Kasper E, Bougeard G, Frébourg T, Tournier I. Raad S, et al. Among authors: charbonnier f. J Med Genet. 2021 Dec;58(12):796-805. doi: 10.1136/jmedgenet-2020-107059. Epub 2020 Oct 13. J Med Genet. 2021. PMID: 33051313 Free PMC article.
No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.
Campion D, Brice A, Hannequin D, Charbonnier F, Dubois B, Martin C, Michon A, Penet C, Bellis M, Calenda A, Martinez M, Agid Y, Clerget-Darpoux F, Frebourg T. Campion D, et al. Among authors: charbonnier f. J Med Genet. 1996 Aug;33(8):661-4. doi: 10.1136/jmg.33.8.661. J Med Genet. 1996. PMID: 8863158 Free PMC article.
Early onset brain tumor and lymphoma in MSH2-deficient children.
Bougeard G, Charbonnier F, Moerman A, Martin C, Ruchoux MM, Drouot N, Frébourg T. Bougeard G, et al. Among authors: charbonnier f. Am J Hum Genet. 2003 Jan;72(1):213-6. doi: 10.1086/345297. Am J Hum Genet. 2003. PMID: 12549480 Free PMC article. No abstract available.
149 results