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Page 1
Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers.
Houlle S, Charbonnier F, Houivet E, Tinat J, Buisine MP, Caron O, Benichou J, Baert-Desurmont S, Frebourg T. Houlle S, et al. Among authors: frebourg t. Eur J Hum Genet. 2011 Aug;19(8):887-92. doi: 10.1038/ejhg.2011.44. Epub 2011 Mar 16. Eur J Hum Genet. 2011. PMID: 21407259 Free PMC article.
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
Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.
Leclerc J, Flament C, Lovecchio T, Delattre L, Ait Yahya E, Baert-Desurmont S, Burnichon N, Bronner M, Cabaret O, Lejeune S, Guimbaud R, Morin G, Mauillon J, Jonveaux P, Laurent-Puig P, Frébourg T, Porchet N, Buisine MP. Leclerc J, et al. Among authors: frebourg t. Genet Med. 2018 Dec;20(12):1589-1599. doi: 10.1038/gim.2018.47. Epub 2018 Apr 12. Genet Med. 2018. PMID: 29790873 Free article.
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: frebourg t. 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 pathogenic rearrangement within the DISC 1 gene in psychosis.
Legallic S, Bou J, Haouzir S, Allio G, Demily C, Petit M, Frebourg T, Thibaut F, Campion D. Legallic S, et al. Among authors: frebourg t. Am J Med Genet B Neuropsychiatr Genet. 2009 Jan 5;150B(1):148-50. doi: 10.1002/ajmg.b.30753. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 18395819
Duodenal adenocarcinoma and Mut Y human homologue-associated polyposis.
Buecher B, Baert-Desurmont S, Leborgne J, Humeau B, Olschwang S, Frébourg T. Buecher B, et al. Among authors: frebourg t. Eur J Gastroenterol Hepatol. 2008 Oct;20(10):1024-7. doi: 10.1097/MEG.0b013e3282f5f749. Eur J Gastroenterol Hepatol. 2008. PMID: 18787472
Diversity of the clinical presentation of the MMR gene biallelic mutations.
Bougeard G, Olivier-Faivre L, Baert-Desurmont S, Tinat J, Martin C, Bouvignies E, Vasseur S, Huet F, Couillault G, Vabres P, Le Pessot F, Chapusot C, Malka D, Bressac-de Paillerets B, Tosi M, Frebourg T. Bougeard G, et al. Among authors: frebourg t. Fam Cancer. 2014 Mar;13(1):131-5. doi: 10.1007/s10689-013-9676-1. Fam Cancer. 2014. PMID: 24068316
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.
401 results