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103 results

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Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene.
Fernandes-Rosa FL, de Castro M, Latronico AC, Sippell WG, Riepe FG, Antonini SR. Fernandes-Rosa FL, et al. Among authors: antonini sr. J Clin Endocrinol Metab. 2006 Sep;91(9):3671-5. doi: 10.1210/jc.2006-0605. Epub 2006 Jun 6. J Clin Endocrinol Metab. 2006. PMID: 16757525
Wnt/beta-catenin pathway deregulation in childhood adrenocortical tumors.
Leal LF, Mermejo LM, Ramalho LZ, Martinelli CE Jr, Yunes JA, Seidinger AL, Mastellaro MJ, Cardinalli IA, Brandalise SR, Moreira AC, Tone LG, Scrideli CA, Castro M, Antonini SR. Leal LF, et al. Among authors: antonini sr. J Clin Endocrinol Metab. 2011 Oct;96(10):3106-14. doi: 10.1210/jc.2011-0363. Epub 2011 Aug 17. J Clin Endocrinol Metab. 2011. PMID: 21849527
Absence of functional LIN28B mutations in a large cohort of patients with idiopathic central precocious puberty.
Silveira-Neto AP, Leal LF, Emerman AB, Henderson KD, Piskounova E, Henderson BE, Gregory RI, Silveira LF, Hirschhorn JN, Nguyen TT, Beneduzzi D, Tusset C, Reis AC, Brito VN, Mendonca BB, Palmert MR, Antonini SR, Latronico AC. Silveira-Neto AP, et al. Among authors: antonini sr. Horm Res Paediatr. 2012;78(3):144-50. doi: 10.1159/000342212. Epub 2012 Sep 6. Horm Res Paediatr. 2012. PMID: 22964795 Free PMC article. Clinical Trial.
Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.
Macedo DB, Abreu AP, Reis AC, Montenegro LR, Dauber A, Beneduzzi D, Cukier P, Silveira LF, Teles MG, Carroll RS, Junior GG, Filho GG, Gucev Z, Arnhold IJ, de Castro M, Moreira AC, Martinelli CE Jr, Hirschhorn JN, Mendonca BB, Brito VN, Antonini SR, Kaiser UB, Latronico AC. Macedo DB, et al. Among authors: antonini sr. J Clin Endocrinol Metab. 2014 Jun;99(6):E1097-103. doi: 10.1210/jc.2013-3126. Epub 2014 Mar 14. J Clin Endocrinol Metab. 2014. PMID: 24628548 Free PMC article.
Altered expression of noncanonical Wnt pathway genes in paediatric and adult adrenocortical tumours.
Mermejo LM, Leal LF, Colli LM, Fragoso MC, Latronico AC, Tone LG, Scrideli CA, Tucci S, Martinelli CE, Yunes JA, Mastellaro MJ, Seidinger AL, Brandalise SR, Moreira AC, Ramalho LN, Antonini SR, Castro M. Mermejo LM, et al. Among authors: antonini sr. Clin Endocrinol (Oxf). 2014 Oct;81(4):503-10. doi: 10.1111/cen.12462. Epub 2014 May 19. Clin Endocrinol (Oxf). 2014. PMID: 24717047
103 results