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Page 1
Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes.
Baert-Desurmont S, Coutant S, Charbonnier F, Macquere P, Lecoquierre F, Schwartz M, Blanluet M, Vezain M, Lanos R, Quenez O, Bou J, Bouvignies E, Fourneaux S, Manase S, Vasseur S, Mauillon J, Gerard M, Marlin R, Bougeard G, Tinat J, Frebourg T, Tournier I. Baert-Desurmont S, et al. Among authors: charbonnier f. Eur J Hum Genet. 2018 Nov;26(11):1597-1602. doi: 10.1038/s41431-018-0207-2. Epub 2018 Jul 2. Eur J Hum Genet. 2018. PMID: 29967336 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.
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.
151 results