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114 results

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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.
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
Sporadic medullary thyroid carcinoma: clinical data from a university hospital.
Correia-Deur JE, Toledo RA, Imazawa AT, Lourenço DM Jr, Ezabella MC, Tavares MR, Toledo SP. Correia-Deur JE, et al. Among authors: toledo ra, toledo sp. Clinics (Sao Paulo). 2009 May;64(5):379-86. doi: 10.1590/s1807-59322009000500002. Clinics (Sao Paulo). 2009. PMID: 19488601 Free PMC 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
Isolated familial somatotropinoma: 11q13-loh and gene/protein expression analysis suggests a possible involvement of aip also in non-pituitary tumorigenesis.
Toledo RA, Mendonca BB, Fragoso MC, Soares IC, Almeida MQ, Moraes MB, Lourenço DM Jr, Alves VA, Bronstein MD, Toledo SP. Toledo RA, et al. Among authors: toledo sp. Clinics (Sao Paulo). 2010 Apr;65(4):407-15. doi: 10.1590/S1807-59322010000400010. Clinics (Sao Paulo). 2010. PMID: 20454499 Free PMC article.
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.
Frank-Raue K, Rybicki LA, Erlic Z, Schweizer H, Winter A, Milos I, Toledo SP, Toledo RA, Tavares MR, Alevizaki M, Mian C, Siggelkow H, Hüfner M, Wohllk N, Opocher G, Dvořáková S, Bendlova B, Czetwertynska M, Skasko E, Barontini M, Sanso G, Vorländer C, Maia AL, Patocs A, Links TP, de Groot JW, Kerstens MN, Valk GD, Miehle K, Musholt TJ, Biarnes J, Damjanovic S, Muresan M, Wüster C, Fassnacht M, Peczkowska M, Fauth C, Golcher H, Walter MA, Pichl J, Raue F, Eng C, Neumann HP; International RET Exon 10 Consortium. Frank-Raue K, et al. Among authors: toledo ra, toledo sp. Hum Mutat. 2011 Jan;32(1):51-8. doi: 10.1002/humu.21385. Hum Mutat. 2011. PMID: 20979234
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.
114 results