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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.
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
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
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.
Pitfalls in the use of DGV for CNV interpretation.
Duclos A, Charbonnier F, Chambon P, Latouche JB, Blavier A, Redon R, Frébourg T, Flaman JM. Duclos A, et al. Among authors: frebourg t. Am J Med Genet A. 2011 Oct;155A(10):2593-6. doi: 10.1002/ajmg.a.34195. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910227 No abstract available.
A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease.
Rovelet-Lecrux A, Legallic S, Wallon D, Flaman JM, Martinaud O, Bombois S, Rollin-Sillaire A, Michon A, Le Ber I, Pariente J, Puel M, Paquet C, Croisile B, Thomas-Antérion C, Vercelletto M, Lévy R, Frébourg T, Hannequin D, Campion D; Investigators of the GMAJ project. Rovelet-Lecrux A, et al. Among authors: frebourg t. Eur J Hum Genet. 2012 Jun;20(6):613-7. doi: 10.1038/ejhg.2011.225. Epub 2011 Dec 14. Eur J Hum Genet. 2012. PMID: 22166940 Free PMC article.
401 results