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Integrating Methylome and Transcriptome Signatures Expands the Molecular Classification of the Pituitary Tumors.
Silva-Júnior RMPD, Bueno AC, Martins CS, Coelli-Lacchini F, Ozaki JGO, Almeida-E-Silva DC, Marrero-Gutiérrez J, Santos ACD, Garcia-Peral C, Machado HR, Santos MVD, Elias PL, Moreira AC, Colli LM, Vêncio RZN, Antonini SR, de Castro M. Silva-Júnior RMPD, et al. Among authors: antonini sr. J Clin Endocrinol Metab. 2023 May 17;108(6):1452-1463. doi: 10.1210/clinem/dgac703. J Clin Endocrinol Metab. 2023. PMID: 36504388
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
A novel ADIPOQ mutation (p.M40K) impairs assembly of high-molecular-weight adiponectin and is associated with early-onset obesity and metabolic syndrome.
Bueno AC, Sun K, Martins CS, Elias Junior J, Miranda W, Tao C, Foss-Freitas MC, Barbieri MA, Bettiol H, de Castro M, Scherer PE, Antonini SR. Bueno AC, et al. Among authors: antonini sr. J Clin Endocrinol Metab. 2014 Apr;99(4):E683-93. doi: 10.1210/jc.2013-3009. Epub 2014 Jan 16. J Clin Endocrinol Metab. 2014. PMID: 24432991
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
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