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Steroid 5α-reductase 2 deficiency.
Mendonca BB, Batista RL, Domenice S, Costa EM, Arnhold IJ, Russell DW, Wilson JD. Mendonca BB, et al. Among authors: batista rl. J Steroid Biochem Mol Biol. 2016 Oct;163:206-11. doi: 10.1016/j.jsbmb.2016.05.020. Epub 2016 May 22. J Steroid Biochem Mol Biol. 2016. PMID: 27224879 Review.
Reprint of "Steroid 5α-reductase 2 deficiency".
Mendonca BB, Batista RL, Domenice S, Costa EM, Arnhold IJ, Russell DW, Wilson JD. Mendonca BB, et al. Among authors: batista rl. J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):95-100. doi: 10.1016/j.jsbmb.2016.11.006. Epub 2016 Nov 11. J Steroid Biochem Mol Biol. 2017. PMID: 27842977 Review.
A severe phenotype of Kennedy disease associated with a very large CAG repeat expansion.
Madeira JLO, Souza ABC, Cunha FS, Batista RL, Gomes NL, Rodrigues AS, Mennucci de Haidar Jorge F, Chadi G, Callegaro D, Mendonca BB, Costa EMF, Domenice S. Madeira JLO, et al. Among authors: batista rl. Muscle Nerve. 2018 Jan;57(1):E95-E97. doi: 10.1002/mus.25952. Epub 2017 Sep 18. Muscle Nerve. 2018. PMID: 28877561 No abstract available.
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: batista rl. 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. 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.
A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant.
Gomes NL, de Paula LCP, Silva JM, Silva TE, Lerário AM, Nishi MY, Batista RL, Faria Júnior JAD, Moraes D, Costa EMF, Hemesath TP, Guaragna-Filho G, Leite JCL, Carvalho CG, Domenice S, Costa EC, Mendonca BB. Gomes NL, et al. Among authors: batista rl. Clin Genet. 2019 Jan;95(1):172-176. doi: 10.1111/cge.13459. Epub 2018 Oct 28. Clin Genet. 2019. PMID: 30294972 Free article.
57 results