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Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
Castéra L, Krieger S, Rousselin A, Legros A, Baumann JJ, Bruet O, Brault B, Fouillet R, Goardon N, Letac O, Baert-Desurmont S, Tinat J, Bera O, Dugast C, Berthet P, Polycarpe F, Layet V, Hardouin A, Frébourg T, Vaur D. Castéra L, et al. Eur J Hum Genet. 2014 Nov;22(11):1305-13. doi: 10.1038/ejhg.2014.16. Epub 2014 Feb 19. Eur J Hum Genet. 2014. PMID: 24549055 Free PMC article.
Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer.
Frebourg T, Oliveira C, Hochain P, Karam R, Manouvrier S, Graziadio C, Vekemans M, Hartmann A, Baert-Desurmont S, Alexandre C, Lejeune Dumoulin S, Marroni C, Martin C, Castedo S, Lovett M, Winston J, Machado JC, Attié T, Jabs EW, Cai J, Pellerin P, Triboulet JP, Scotte M, Le Pessot F, Hedouin A, Carneiro F, Blayau M, Seruca R. Frebourg T, et al. J Med Genet. 2006 Feb;43(2):138-42. doi: 10.1136/jmg.2005.031385. Epub 2005 Apr 14. J Med Genet. 2006. PMID: 15831593 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
2009 version of the Chompret criteria for Li Fraumeni syndrome.
Tinat J, Bougeard G, Baert-Desurmont S, Vasseur S, Martin C, Bouvignies E, Caron O, Bressac-de Paillerets B, Berthet P, Dugast C, Bonaïti-Pellié C, Stoppa-Lyonnet D, Frébourg T. Tinat J, et al. J Clin Oncol. 2009 Sep 10;27(26):e108-9; author reply e110. doi: 10.1200/JCO.2009.22.7967. Epub 2009 Aug 3. J Clin Oncol. 2009. PMID: 19652052 No abstract available.
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. 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.
57 results