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Page 1
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.
Lecoquierre F, Cassinari K, Drouot N, May A, Fourneaux S, Charbonnier F, Derambure C, Coutant S, Saugier-Veber P, Hoischen A, Charbonnier C, Nicolas G. Lecoquierre F, et al. Among authors: charbonnier f. Sci Rep. 2024 Mar 4;14(1):5289. doi: 10.1038/s41598-024-53358-9. Sci Rep. 2024. PMID: 38438430 Free PMC article.
A simple p53 functional assay for screening cell lines, blood, and tumors.
Flaman JM, Frebourg T, Moreau V, Charbonnier F, Martin C, Chappuis P, Sappino AP, Limacher IM, Bron L, Benhattar J, et al. Flaman JM, et al. Among authors: charbonnier f. Proc Natl Acad Sci U S A. 1995 Apr 25;92(9):3963-7. doi: 10.1073/pnas.92.9.3963. Proc Natl Acad Sci U S A. 1995. PMID: 7732013 Free PMC article.
A rapid PCR fidelity assay.
Flaman JM, Frebourg T, Moreau V, Charbonnier F, Martin C, Ishioka C, Friend SH, Iggo R. Flaman JM, et al. Among authors: charbonnier f. Nucleic Acids Res. 1994 Aug 11;22(15):3259-60. doi: 10.1093/nar/22.15.3259. Nucleic Acids Res. 1994. PMID: 8065949 Free PMC article. No abstract available.
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.
152 results