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129 results

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Page 1
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.
Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.
Yao L, Schiavi F, Cascon A, Qin Y, Inglada-Pérez L, King EE, Toledo RA, Ercolino T, Rapizzi E, Ricketts CJ, Mori L, Giacchè M, Mendola A, Taschin E, Boaretto F, Loli P, Iacobone M, Rossi GP, Biondi B, Lima-Junior JV, Kater CE, Bex M, Vikkula M, Grossman AB, Gruber SB, Barontini M, Persu A, Castellano M, Toledo SP, Maher ER, Mannelli M, Opocher G, Robledo M, Dahia PL. Yao L, et al. Among authors: toledo ra, toledo sp. JAMA. 2010 Dec 15;304(23):2611-9. doi: 10.1001/jama.2010.1830. JAMA. 2010. PMID: 21156949 Free article.
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
Novel pheochromocytoma susceptibility loci identified by integrative genomics.
Dahia PL, Hao K, Rogus J, Colin C, Pujana MA, Ross K, Magoffin D, Aronin N, Cascon A, Hayashida CY, Li C, Toledo SP, Stiles CD; Familial Pheochromocytoma Consortium. Dahia PL, et al. Among authors: toledo sp. Cancer Res. 2005 Nov 1;65(21):9651-8. doi: 10.1158/0008-5472.CAN-05-1427. Cancer Res. 2005. PMID: 16266984
Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.
Toledo RA, Hatakana R, Lourenço DM Jr, Lindsey SC, Camacho CP, Almeida M, Lima JV Jr, Sekiya T, Garralda E, Naslavsky MS, Yamamoto GL, Lazar M, Meirelles O, Sobreira TJ, Lebrao ML, Duarte YA, Blangero J, Zatz M, Cerutti JM, Maciel RM, Toledo SP. Toledo RA, et al. Among authors: toledo sp. Endocr Relat Cancer. 2015 Feb;22(1):65-76. doi: 10.1530/ERC-14-0491. Epub 2014 Nov 25. Endocr Relat Cancer. 2015. PMID: 25425582 Free PMC article.
Novel MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1.
Toledo RA, Lourenço DM Jr, Coutinho FL, Quedas E, Mackowiack I, Machado MC, Montenegro F, Cunha-Neto MB, Liberman B, Pereira MA, Correa PH, Toledo SP. Toledo RA, et al. Among authors: toledo sp. Clin Endocrinol (Oxf). 2007 Sep;67(3):377-84. doi: 10.1111/j.1365-2265.2007.02895.x. Epub 2007 Jun 6. Clin Endocrinol (Oxf). 2007. PMID: 17555499
129 results