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Genotyping of an Italian papillary thyroid carcinoma cohort revealed high prevalence of BRAF mutations, absence of RAS mutations and allowed the detection of a new mutation of BRAF oncoprotein (BRAF(V599lns)).
Carta C, Moretti S, Passeri L, Barbi F, Avenia N, Cavaliere A, Monacelli M, Macchiarulo A, Santeusanio F, Tartaglia M, Puxeddu E. Carta C, et al. Among authors: puxeddu e. Clin Endocrinol (Oxf). 2006 Jan;64(1):105-9. doi: 10.1111/j.1365-2265.2005.02401.x. Clin Endocrinol (Oxf). 2006. PMID: 16402937
BRAF mutations in papillary thyroid carcinomas inhibit genes involved in iodine metabolism.
Durante C, Puxeddu E, Ferretti E, Morisi R, Moretti S, Bruno R, Barbi F, Avenia N, Scipioni A, Verrienti A, Tosi E, Cavaliere A, Gulino A, Filetti S, Russo D. Durante C, et al. Among authors: puxeddu e. J Clin Endocrinol Metab. 2007 Jul;92(7):2840-3. doi: 10.1210/jc.2006-2707. Epub 2007 May 8. J Clin Endocrinol Metab. 2007. PMID: 17488796
Clinical implications of BRAF mutation in thyroid carcinoma.
Puxeddu E, Durante C, Avenia N, Filetti S, Russo D. Puxeddu E, et al. Trends Endocrinol Metab. 2008 May-Jun;19(4):138-45. doi: 10.1016/j.tem.2007.12.003. Epub 2008 Mar 11. Trends Endocrinol Metab. 2008. PMID: 18337114 Review.
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
Sarkozy A, Carta C, Moretti S, Zampino G, Digilio MC, Pantaleoni F, Scioletti AP, Esposito G, Cordeddu V, Lepri F, Petrangeli V, Dentici ML, Mancini GM, Selicorni A, Rossi C, Mazzanti L, Marino B, Ferrero GB, Silengo MC, Memo L, Stanzial F, Faravelli F, Stuppia L, Puxeddu E, Gelb BD, Dallapiccola B, Tartaglia M. Sarkozy A, et al. Among authors: puxeddu e. Hum Mutat. 2009 Apr;30(4):695-702. doi: 10.1002/humu.20955. Hum Mutat. 2009. PMID: 19206169 Free PMC article.
178 results