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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: bougeard g. Hum Mutat. 2013 Mar;34(3):453-61. doi: 10.1002/humu.22254. Epub 2013 Feb 11. Hum Mutat. 2013. PMID: 23172776
Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome.
Bougeard G, Limacher JM, Martin C, Charbonnier F, Killian A, Delattre O, Longy M, Jonveaux P, Fricker JP, Stoppa-Lyonnet D, Flaman JM, Frébourg T. Bougeard G, et al. J Med Genet. 2001 Apr;38(4):253-7. doi: 10.1136/jmg.38.4.253. J Med Genet. 2001. PMID: 11370630 Free PMC article. No abstract available.
TP63 gene mutation in ADULT syndrome.
Amiel J, Bougeard G, Francannet C, Raclin V, Munnich A, Lyonnet S, Frebourg T. Amiel J, et al. Among authors: bougeard g. Eur J Hum Genet. 2001 Aug;9(8):642-5. doi: 10.1038/sj.ejhg.5200676. Eur J Hum Genet. 2001. PMID: 11528512
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. 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.
An information-theoretic analysis of genetics, gender and age in cancer patients.
Atwal GS, Rabadán R, Lozano G, Strong LC, Ruijs MW, Schmidt MK, van't Veer LJ, Nevanlinna H, Tommiska J, Aittomäki K, Bougeard G, Frebourg T, Levine AJ, Bond GL. Atwal GS, et al. Among authors: bougeard g. PLoS One. 2008 Apr 9;3(4):e1951. doi: 10.1371/journal.pone.0001951. PLoS One. 2008. PMID: 18398474 Free PMC article.
Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families.
Bougeard G, Sesboüé R, Baert-Desurmont S, Vasseur S, Martin C, Tinat J, Brugières L, Chompret A, de Paillerets BB, Stoppa-Lyonnet D, Bonaïti-Pellié C, Frébourg T; French LFS working group. Bougeard G, et al. J Med Genet. 2008 Aug;45(8):535-8. doi: 10.1136/jmg.2008.057570. Epub 2008 May 29. J Med Genet. 2008. PMID: 18511570
43 results