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Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.
Homma TK, Freire BL, Honjo Kawahira RS, Dauber A, Funari MFA, Lerario AM, Nishi MY, Albuquerque EV, Vasques GA, Collett-Solberg PF, Miura Sugayama SM, Bertola DR, Kim CA, Arnhold IJP, Malaquias AC, Jorge AAL. Homma TK, et al. Among authors: nishi my. J Pediatr. 2019 Dec;215:192-198. doi: 10.1016/j.jpeds.2019.08.024. Epub 2019 Oct 17. J Pediatr. 2019. PMID: 31630891
ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia.
Alencar GA, Lerario AM, Nishi MY, Mariani BM, Almeida MQ, Tremblay J, Hamet P, Bourdeau I, Zerbini MC, Pereira MA, Gomes GC, Rocha Mde S, Chambo JL, Lacroix A, Mendonca BB, Fragoso MC. Alencar GA, et al. Among authors: nishi my. J Clin Endocrinol Metab. 2014 Aug;99(8):E1501-9. doi: 10.1210/jc.2013-4237. Epub 2014 Apr 7. J Clin Endocrinol Metab. 2014. PMID: 24708098
Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis.
Gomes NL, Lerário AM, Machado AZ, Moraes DR, Silva TED, Arnhold IJP, Batista RL, Faria Júnior JAD, Costa EF, Nishi MY, Inacio M, Domenice S, Mendonca BB. Gomes NL, et al. Among authors: nishi my. Clin Endocrinol (Oxf). 2018 Aug;89(2):164-177. doi: 10.1111/cen.13717. Epub 2018 May 23. Clin Endocrinol (Oxf). 2018. PMID: 29668062 Free article.
Androgen insensitivity syndrome: a review.
Batista RL, Costa EMF, Rodrigues AS, Gomes NL, Faria JA Jr, Nishi MY, Arnhold IJP, Domenice S, Mendonca BB. Batista RL, et al. Among authors: nishi my. Arch Endocrinol Metab. 2018 Mar-Apr;62(2):227-235. doi: 10.20945/2359-3997000000031. Arch Endocrinol Metab. 2018. PMID: 29768628 Free PMC article. Review.
87 results