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Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene.
Richter-Unruh A, Martens JW, Verhoef-Post M, Wessels HT, Kors WA, Sinnecker GH, Boehmer A, Drop SL, Toledo SP, Brunner HG, Themmen AP. Richter-Unruh A, et al. Clin Endocrinol (Oxf). 2002 Jan;56(1):103-12. doi: 10.1046/j.0300-0664.2001.01437.x. Clin Endocrinol (Oxf). 2002. PMID: 11849253
Multiple endocrine neoplasia type 1 in Brazil: MEN1 founding mutation, clinical features, and bone mineral density profile.
Lourenço DM Jr, Toledo RA, Mackowiak II, Coutinho FL, Cavalcanti MG, Correia-Deur JE, Montenegro F, Siqueira SA, Margarido LC, Machado MC, Toledo SP. Lourenço DM Jr, et al. Eur J Endocrinol. 2008 Sep;159(3):259-74. doi: 10.1530/EJE-08-0153. Epub 2008 Jun 4. Eur J Endocrinol. 2008. PMID: 18524795
Association between the p27 rs2066827 variant and tumor multiplicity in patients harboring MEN1 germline mutations.
Longuini VC, Lourenço DM Jr, Sekiya T, Meirelles O, Goncalves TD, Coutinho FL, Francisco G, Osaki LH, Chammas R, Alves VA, Siqueira SA, Schlesinger D, Naslavsky MS, Zatz M, Duarte YA, Lebrão ML, Gama P, Lee M, Molatore S, Pereira MA, Jallad RS, Bronstein MD, Cunha-Neto MB, Liberman B, Fragoso MC, Toledo SP, Pellegata NS, Toledo RA. Longuini VC, et al. Among authors: toledo sp. Eur J Endocrinol. 2014 Sep;171(3):335-42. doi: 10.1530/EJE-14-0130. Epub 2014 Jun 11. Eur J Endocrinol. 2014. PMID: 24920291
Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing.
Carvalho RA, Urtremari B, Jorge AAL, Santana LS, Quedas EPS, Sekiya T, Longuini VC, Montenegro FLM, Lerario AM, Toledo SPA, Marx SJ, Toledo RA, Lourenço DM Jr. Carvalho RA, et al. Among authors: toledo spa. Eur J Endocrinol. 2018 Dec 1;179(6):391-407. doi: 10.1530/EJE-18-0430. Eur J Endocrinol. 2018. PMID: 30324798
Assessing the emerging oncogene protein kinase C epsilon as a candidate gene in families with Carney complex-2.
Toledo RA, Sekiya T, Horvath A, Faucz F, Fragoso MC, Longuini VC, Lourenço DM Jr, Toledo SP, Stratakis CA. Toledo RA, et al. Clin Endocrinol (Oxf). 2012 Jan;76(1):147-8. doi: 10.1111/j.1365-2265.2011.04144.x. Clin Endocrinol (Oxf). 2012. PMID: 21649687 No abstract available.
Penetrance and clinical features of pheochromocytoma in a six-generation family carrying a germline TMEM127 mutation.
Toledo SP, Lourenço DM Jr, Sekiya T, Lucon AM, Baena ME, Castro CC, Bortolotto LA, Zerbini MC, Siqueira SA, Toledo RA, Dahia PL. Toledo SP, et al. J Clin Endocrinol Metab. 2015 Feb;100(2):E308-18. doi: 10.1210/jc.2014-2473. Epub 2014 Nov 12. J Clin Endocrinol Metab. 2015. PMID: 25389632
Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study.
Daly AF, Tichomirowa MA, Petrossians P, Heliövaara E, Jaffrain-Rea ML, Barlier A, Naves LA, Ebeling T, Karhu A, Raappana A, Cazabat L, De Menis E, Montañana CF, Raverot G, Weil RJ, Sane T, Maiter D, Neggers S, Yaneva M, Tabarin A, Verrua E, Eloranta E, Murat A, Vierimaa O, Salmela PI, Emy P, Toledo RA, Sabaté MI, Villa C, Popelier M, Salvatori R, Jennings J, Longás AF, Labarta Aizpún JI, Georgitsi M, Paschke R, Ronchi C, Valimaki M, Saloranta C, De Herder W, Cozzi R, Guitelman M, Magri F, Lagonigro MS, Halaby G, Corman V, Hagelstein MT, Vanbellinghen JF, Barra GB, Gimenez-Roqueplo AP, Cameron FJ, Borson-Chazot F, Holdaway I, Toledo SP, Stalla GK, Spada A, Zacharieva S, Bertherat J, Brue T, Bours V, Chanson P, Aaltonen LA, Beckers A. Daly AF, et al. J Clin Endocrinol Metab. 2010 Nov;95(11):E373-83. doi: 10.1210/jc.2009-2556. Epub 2010 Aug 4. J Clin Endocrinol Metab. 2010. PMID: 20685857
Assessment of Depression, Anxiety, Quality of Life, and Coping in Long-Standing Multiple Endocrine Neoplasia Type 2 Patients.
Rodrigues KC, Toledo RA, Coutinho FL, Nunes AB, Maciel RMB, Hoff AO, Tavares MC, Toledo SPA, Lourenço DM Jr. Rodrigues KC, et al. Among authors: toledo spa. Thyroid. 2017 May;27(5):693-706. doi: 10.1089/thy.2016.0148. Epub 2017 Apr 4. Thyroid. 2017. PMID: 28276947
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