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Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia.
Rio Frio T, Lavoie J, Hamel N, Geyer FC, Kushner YB, Novak DJ, Wark L, Capelli C, Reis-Filho JS, Mai S, Pastinen T, Tischkowitz MD, Marcus VA, Foulkes WD. Rio Frio T, et al. N Engl J Med. 2010 Dec 30;363(27):2628-37. doi: 10.1056/NEJMoa1006565. N Engl J Med. 2010. PMID: 21190457 Free article.
Germline DICER1 mutations and familial cystic nephroma.
Bahubeshi A, Bal N, Rio Frio T, Hamel N, Pouchet C, Yilmaz A, Bouron-Dal Soglio D, Williams GM, Tischkowitz M, Priest JR, Foulkes WD. Bahubeshi A, et al. Among authors: rio frio t. J Med Genet. 2010 Dec;47(12):863-6. doi: 10.1136/jmg.2010.081216. Epub 2010 Oct 29. J Med Genet. 2010. PMID: 21036787
DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.
Rio Frio T, Bahubeshi A, Kanellopoulou C, Hamel N, Niedziela M, Sabbaghian N, Pouchet C, Gilbert L, O'Brien PK, Serfas K, Broderick P, Houlston RS, Lesueur F, Bonora E, Muljo S, Schimke RN, Bouron-Dal Soglio D, Arseneau J, Schultz KA, Priest JR, Nguyen VH, Harach HR, Livingston DM, Foulkes WD, Tischkowitz M. Rio Frio T, et al. JAMA. 2011 Jan 5;305(1):68-77. doi: 10.1001/jama.2010.1910. JAMA. 2011. PMID: 21205968 Free PMC article.
Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite.
Grünewald TG, Bernard V, Gilardi-Hebenstreit P, Raynal V, Surdez D, Aynaud MM, Mirabeau O, Cidre-Aranaz F, Tirode F, Zaidi S, Perot G, Jonker AH, Lucchesi C, Le Deley MC, Oberlin O, Marec-Bérard P, Véron AS, Reynaud S, Lapouble E, Boeva V, Rio Frio T, Alonso J, Bhatia S, Pierron G, Cancel-Tassin G, Cussenot O, Cox DG, Morton LM, Machiela MJ, Chanock SJ, Charnay P, Delattre O. Grünewald TG, et al. Among authors: rio frio t. Nat Genet. 2015 Sep;47(9):1073-8. doi: 10.1038/ng.3363. Epub 2015 Jul 27. Nat Genet. 2015. PMID: 26214589 Free PMC article.
Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model.
Tarabeux J, Zeitouni B, Moncoutier V, Tenreiro H, Abidallah K, Lair S, Legoix-Né P, Leroy Q, Rouleau E, Golmard L, Barillot E, Stern MH, Rio-Frio T, Stoppa-Lyonnet D, Houdayer C. Tarabeux J, et al. Among authors: rio frio t. Eur J Hum Genet. 2014 Apr;22(4):535-41. doi: 10.1038/ejhg.2013.181. Epub 2013 Aug 14. Eur J Hum Genet. 2014. PMID: 23942203 Free PMC article.
23 results