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Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
Domenice S, Machado AZ, Ferreira FM, Ferraz-de-Souza B, Lerario AM, Lin L, Nishi MY, Gomes NL, da Silva TE, Silva RB, Correa RV, Montenegro LR, Narciso A, Costa EM, Achermann JC, Mendonca BB. Domenice S, et al. Among authors: gomes nl. Birth Defects Res C Embryo Today. 2016 Dec;108(4):309-320. doi: 10.1002/bdrc.21145. Birth Defects Res C Embryo Today. 2016. PMID: 28033660 Free PMC article. 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: gomes nl. 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.
Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development.
Baetens D, Güran T, Mendonca BB, Gomes NL, De Cauwer L, Peelman F, Verdin H, Vuylsteke M, Van der Linden M; ESR2 STUDY GROUP; Atay Z, Bereket A, de Krijger RR, Preter K, Domenice S, Turan S, Stoop H, Looijenga LH, De Bosscher K, Cools M, De Baere E. Baetens D, et al. Among authors: gomes nl. Genet Med. 2018 Jul;20(7):717-727. doi: 10.1038/gim.2017.163. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29261182 Free article.
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. 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: gomes nl. 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. Clin Genet. 2019 Jan;95(1):172-176. doi: 10.1111/cge.13459. Epub 2018 Oct 28. Clin Genet. 2019. PMID: 30294972 Free article.
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