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The Molecular Basis of 5α-Reductase Type 2 Deficiency.
Batista RL, Mendonca BB. Batista RL, et al. Among authors: mendonca bb. Sex Dev. 2022;16(2-3):171-183. doi: 10.1159/000525119. Epub 2022 Jul 6. Sex Dev. 2022. PMID: 35793650 Free article. Review.
Steroid 5α-reductase 2 deficiency.
Mendonca BB, Batista RL, Domenice S, Costa EM, Arnhold IJ, Russell DW, Wilson JD. Mendonca BB, et al. 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. 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: mendonca bb. 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: mendonca bb. 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.
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: mendonca bb. Clin Genet. 2019 Jan;95(1):172-176. doi: 10.1111/cge.13459. Epub 2018 Oct 28. Clin Genet. 2019. PMID: 30294972 Free article.
491 results