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Page 1
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
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.
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
International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry.
Bacila I, Freeman N, Daniel E, Sandrk M, Bryce J, Ali SR, Yavas Abali Z, Atapattu N, Bachega TA, Balsamo A, Birkebæk N, Blankenstein O, Bonfig W, Cools M, Costa EC, Darendeliler F, Einaudi S, Elsedfy HH, Finken M, Gevers E, Claahsen-van der Grinten HL, Guran T, Güven A, Hannema SE, Higham CE, Iotova V, van der Kamp HJ, Korbonits M, Krone RE, Lichiardopol C, Luczay A, Mendonca BB, Milenkovic T, Miranda MC, Mohnike K, Neumann U, Ortolano R, Poyrazoglu S, Thankamony A, Tomlinson JW, Vieites A, de Vries L, Ahmed SF, Ross RJ, Krone NP. Bacila I, et al. Among authors: costa ec. Eur J Endocrinol. 2021 Apr;184(4):553-563. doi: 10.1530/EJE-20-1249. Eur J Endocrinol. 2021. PMID: 33460392 Free article.
Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry.
Lawrence N, Bacila I, Dawson J, Bryce J, Ali SR, van den Akker ELT, Bachega TASS, Baronio F, Birkebaek NH, Bonfig W, van der Grinten HC, Costa EC, de Vries L, Elsedfy H, Güven A, Hannema S, Iotova V, van der Kamp HJ, Clemente M, Lichiardopol CR, Milenkovic T, Neumann U, Nordenström A, Poyrazoğlu Ş, Probst-Scheidegger U, De Sanctis L, Tadokoro-Cuccaro R, Thankamony A, Vieites A, Yavaş Z, Faisal Ahmed S, Krone N. Lawrence N, et al. Among authors: costa ec. Clin Endocrinol (Oxf). 2022 Nov;97(5):551-561. doi: 10.1111/cen.14796. Epub 2022 Jul 11. Clin Endocrinol (Oxf). 2022. PMID: 35781728 Free PMC article.
246 results