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High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protooncogene.
Toledo RA, Wagner SM, Coutinho FL, Lourenço DM Jr, Azevedo JA, Longuini VC, Reis MT, Siqueira SA, Lucon AM, Tavares MR, Fragoso MC, Pereira AA, Dahia PL, Mulligan LM, Toledo SP. Toledo RA, et al. Among authors: toledo sp. J Clin Endocrinol Metab. 2010 Mar;95(3):1318-27. doi: 10.1210/jc.2009-1355. Epub 2010 Jan 15. J Clin Endocrinol Metab. 2010. PMID: 20080836
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.
Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, Lechleiter JD, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo RA, Toledo SP, Stiles C, Aguiar RC, Dahia PL. Qin Y, et al. Among authors: toledo ra, toledo sp. Nat Genet. 2010 Mar;42(3):229-33. doi: 10.1038/ng.533. Epub 2010 Feb 14. Nat Genet. 2010. PMID: 20154675 Free PMC article.
A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas.
Dahia PL, Ross KN, Wright ME, Hayashida CY, Santagata S, Barontini M, Kung AL, Sanso G, Powers JF, Tischler AS, Hodin R, Heitritter S, Moore F, Dluhy R, Sosa JA, Ocal IT, Benn DE, Marsh DJ, Robinson BG, Schneider K, Garber J, Arum SM, Korbonits M, Grossman A, Pigny P, Toledo SP, Nosé V, Li C, Stiles CD. Dahia PL, et al. Among authors: toledo sp. PLoS Genet. 2005 Jul;1(1):72-80. doi: 10.1371/journal.pgen.0010008. Epub 2005 Jul 25. PLoS Genet. 2005. PMID: 16103922 Free PMC article.
129 results