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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.
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.
Bougeard G, Renaux-Petel M, Flaman JM, Charbonnier C, Fermey P, Belotti M, Gauthier-Villars M, Stoppa-Lyonnet D, Consolino E, Brugières L, Caron O, Benusiglio PR, Bressac-de Paillerets B, Bonadona V, Bonaïti-Pellié C, Tinat J, Baert-Desurmont S, Frebourg T. Bougeard G, et al. Among authors: frebourg t. J Clin Oncol. 2015 Jul 20;33(21):2345-52. doi: 10.1200/JCO.2014.59.5728. Epub 2015 May 26. J Clin Oncol. 2015. PMID: 26014290
A new genotoxicity assay based on p53 target gene induction.
Zerdoumi Y, Kasper E, Soubigou F, Adriouch S, Bougeard G, Frebourg T, Flaman JM. Zerdoumi Y, et al. Among authors: frebourg t. Mutat Res Genet Toxicol Environ Mutagen. 2015 Aug;789-790:28-35. doi: 10.1016/j.mrgentox.2015.05.010. Epub 2015 May 29. Mutat Res Genet Toxicol Environ Mutagen. 2015. PMID: 26232255
400 results