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Drastic effect of germline TP53 missense mutations in Li-Fraumeni patients.
Zerdoumi Y, Aury-Landas J, Bonaïti-Pellié C, Derambure C, Sesboüé R, Renaux-Petel M, Frebourg T, Bougeard G, Flaman JM. Zerdoumi Y, et al. Among authors: frebourg t. Hum Mutat. 2013 Mar;34(3):453-61. doi: 10.1002/humu.22254. Epub 2013 Feb 11. Hum Mutat. 2013. PMID: 23172776
Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours.
Aury-Landas J, Bougeard G, Castel H, Hernandez-Vargas H, Drouet A, Latouche JB, Schouft MT, Férec C, Leroux D, Lasset C, Coupier I, Caron O, Herceg Z, Frebourg T, Flaman JM. Aury-Landas J, et al. Among authors: frebourg t. Eur J Hum Genet. 2013 Dec;21(12):1369-76. doi: 10.1038/ejhg.2013.68. Epub 2013 Apr 24. Eur J Hum Genet. 2013. PMID: 23612572 Free PMC article.
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
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.
401 results