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246 results

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Page 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.
Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum.
da Silva TE, Gomes NL, Lerário AM, Keegan CE, Nishi MY, Carvalho FM, Vilain E, Barseghyan H, Martinez-Aguayo A, Forclaz MV, Papazian R, Pedroso de Paula LC, Costa EC, Carvalho LR, Jorge AAL, Elias FM, Mitchell R, Costa EMF, Mendonca BB, Domenice S. da Silva TE, et al. Among authors: costa emf, costa ec. J Clin Endocrinol Metab. 2019 Dec 1;104(12):5923-5934. doi: 10.1210/jc.2019-00984. J Clin Endocrinol Metab. 2019. PMID: 31287541
Real-World Estimates of Adrenal Insufficiency-Related Adverse Events in Children With Congenital Adrenal Hyperplasia.
Ali SR, Bryce J, Haghpanahan H, Lewsey JD, Tan LE, Atapattu N, Birkebaek NH, Blankenstein O, Neumann U, Balsamo A, Ortolano R, Bonfig W, Claahsen-van der Grinten HL, Cools M, Costa EC, Darendeliler F, Poyrazoglu S, Elsedfy H, Finken MJJ, Fluck CE, Gevers E, Korbonits M, Guaragna-Filho G, Guran T, Guven A, Hannema SE, Higham C, Hughes IA, Tadokoro-Cuccaro R, Thankamony A, Iotova V, Krone NP, Krone R, Lichiardopol C, Luczay A, Mendonca BB, Bachega TASS, Miranda MC, Milenkovic T, Mohnike K, Nordenstrom A, Einaudi S, van der Kamp H, Vieites A, de Vries L, Ross RJM, Ahmed SF. Ali SR, et al. Among authors: costa ec. J Clin Endocrinol Metab. 2021 Jan 1;106(1):e192-e203. doi: 10.1210/clinem/dgaa694. J Clin Endocrinol Metab. 2021. PMID: 32995889 Free PMC article.
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
Long-term cardiometabolic morbidity in young adults with classic 21-hydroxylase deficiency congenital adrenal hyperplasia.
Righi B, Ali SR, Bryce J, Tomlinson JW, Bonfig W, Baronio F, Costa EC, Guaragna-Filho G, T'Sjoen G, Cools M, Markosyan R, Bachega TASS, Miranda MC, Iotova V, Falhammar H, Ceccato F, Stancampiano MR, Russo G, Daniel E, Auchus RJ, Ross RJ, Ahmed SF. Righi B, et al. Among authors: costa ec. Endocrine. 2023 Jun;80(3):630-638. doi: 10.1007/s12020-023-03330-w. Epub 2023 Mar 1. Endocrine. 2023. PMID: 36857009 Free PMC article.
246 results