Costa EMF - Search Results

1

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: costa emf, costa ec. Clin Genet. 2019 Jan;95(1):172-176. doi: 10.1111/cge.13459. Epub 2018 Oct 28. Clin Genet. 2019. PMID: 30294972 Free article.

2

Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing.

França MM, Funari MFA, Nishi MY, Narcizo AM, Domenice S, Costa EMF, Lerario AM, Mendonca BB. França MM, et al. Among authors: costa emf. Clin Genet. 2018 Feb;93(2):408-411. doi: 10.1111/cge.13156. Epub 2017 Dec 26. Clin Genet. 2018. PMID: 29044499 Free article.

3

46,XY disorders of sex development (DSD).

Mendonca BB, Domenice S, Arnhold IJ, Costa EM. Mendonca BB, et al. Clin Endocrinol (Oxf). 2009 Feb;70(2):173-87. doi: 10.1111/j.1365-2265.2008.03392.x. Clin Endocrinol (Oxf). 2009. PMID: 18811725 Review.

4

Quality of life of patients with 46,XX and 46,XY disorders of sex development.

Amaral RC, Inacio M, Brito VN, Bachega TA, Domenice S, Arnhold IJ, Madureira G, Gomes L, Costa EM, Mendonca BB. Amaral RC, et al. Clin Endocrinol (Oxf). 2015 Feb;82(2):159-64. doi: 10.1111/cen.12561. Epub 2014 Aug 14. Clin Endocrinol (Oxf). 2015. PMID: 25040878 Review.

5

Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre.

Cassia Amaral R, Inacio M, Brito VN, Bachega TA, Oliveira AA Jr, Domenice S, Denes FT, Sircili MH, Arnhold IJ, Madureira G, Gomes L, Costa EM, Mendonca BB. Cassia Amaral R, et al. Clin Endocrinol (Oxf). 2015 Feb;82(2):274-9. doi: 10.1111/cen.12572. Epub 2014 Sep 1. Clin Endocrinol (Oxf). 2015. PMID: 25074426

6

Androgen receptor mRNA analysis from whole blood: a low-cost strategy for detection of androgen receptor gene splicing defects.

Silva JM, Batista RL, De Santi Rodrigues A, Nishi MY, Costa EMF, Domenice S, Carvalho LRS, Mendonca BB. Silva JM, et al. Among authors: costa emf. Clin Genet. 2018 Nov;94(5):489-490. doi: 10.1111/cge.13437. Epub 2018 Sep 7. Clin Genet. 2018. PMID: 30193409

7

WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease.

Ferrari MTM, Watanabe A, da Silva TE, Gomes NL, Batista RL, Nishi MY, de Paula LCP, Costa EC, Costa EMF, Cukier P, Onuchic LF, Mendonca BB, Domenice S. Ferrari MTM, et al. Among authors: costa emf, costa ec. Sex Dev. 2022;16(1):46-54. doi: 10.1159/000517373. Epub 2021 Aug 13. Sex Dev. 2022. PMID: 34392242

8

Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.

Domenice S, Corrêa RV, Costa EM, Nishi MY, Vilain E, Arnhold IJ, Mendonca BB. Domenice S, et al. Braz J Med Biol Res. 2004 Jan;37(1):145-50. doi: 10.1590/s0100-879x2004000100020. Epub 2003 Dec 18. Braz J Med Biol Res. 2004. PMID: 14689056 Free article.

9

An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.

Melo KF, Martin RM, Costa EM, Carvalho FM, Jorge AA, Arnhold IJ, Mendonca BB. Melo KF, et al. J Clin Endocrinol Metab. 2002 Jun;87(6):2500-5. doi: 10.1210/jcem.87.6.8521. J Clin Endocrinol Metab. 2002. PMID: 12050205 Review.

10

46,XY DSD due to impaired androgen production.

Mendonca BB, Costa EM, Belgorosky A, Rivarola MA, Domenice S. Mendonca BB, et al. Best Pract Res Clin Endocrinol Metab. 2010 Apr;24(2):243-62. doi: 10.1016/j.beem.2009.11.003. Best Pract Res Clin Endocrinol Metab. 2010. PMID: 20541150 Review.

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