Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Mayara J. Prado"'
Autor:
Mayara J. Prado, Rodrigo Ligabue-Braun, Arnaldo Zaha, Maria Lucia Rosa Rossetti, Amit V. Pandey
Publikováno v:
Frontiers in Pharmacology, Vol 13 (2022)
CYP21A2 deficiency represents 95% of congenital adrenal hyperplasia (CAH) cases, a group of genetic disorders that affect steroid biosynthesis. The genetic and functional analysis provide critical tools to elucidate complex CAH cases. One of the most
Externí odkaz:
https://doaj.org/article/7823c4951a0f414b9f6f9c3c722e334d
Autor:
Cristiane Kopacek, Mayara J. Prado, Claudia M.D. da Silva, Simone M. de Castro, Luciana A. Beltrão, Paula R. Vargas, Tarciana Grandi, Maria L.R. Rossetti, Poli Mara Spritzer
Publikováno v:
Jornal de Pediatria (Versão em Português), Vol 95, Iss 3, Pp 282-290 (2019)
Objective: To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases. Methods: A cross-sectional study
Externí odkaz:
https://doaj.org/article/494967c3f98e4641899513715c6bfa25
Autor:
Mayara J. Prado, Shripriya Singh, Rodrigo Ligabue-Braun, Bruna V. Meneghetti, Thaiane Rispoli, Cristiane Kopacek, Karina Monteiro, Arnaldo Zaha, Maria L. R. Rossetti, Amit V. Pandey
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 296, p 296 (2022)
Prado, Mayara J.; Singh, Shripriya; Ligabue-Braun, Rodrigo; Meneghetti, Bruna V.; Rispoli, Thaiane; Kopacek, Cristiane; Monteiro, Karina; Zaha, Arnaldo; Rossetti, Maria L. R.; Pandey, Amit Vikram (2022). Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations. International journal of molecular sciences, 23(1), p. 296. MDPI 10.3390/ijms23010296
International Journal of Molecular Sciences
International Journal of Molecular Sciences; Volume 23; Issue 1; Pages: 296
Prado, Mayara J.; Singh, Shripriya; Ligabue-Braun, Rodrigo; Meneghetti, Bruna V.; Rispoli, Thaiane; Kopacek, Cristiane; Monteiro, Karina; Zaha, Arnaldo; Rossetti, Maria L. R.; Pandey, Amit Vikram (2022). Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations. International journal of molecular sciences, 23(1), p. 296. MDPI 10.3390/ijms23010296
International Journal of Molecular Sciences
International Journal of Molecular Sciences; Volume 23; Issue 1; Pages: 296
Deficiency of Cytochrome P450 Steroid 21-hydroxylase (CYP21A2) represents 90% of cases in congenital adrenal hyperplasia (CAH), an autosomal recessive disease caused by defects in cortisol biosynthesis. Computational prediction along with functional
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0978c1698aba92af833376b0d64a68d2
https://www.mdpi.com/1422-0067/23/1/296
https://www.mdpi.com/1422-0067/23/1/296
Autor:
Mayara J. Prado, Shripriya Singh, Rodrigo Ligabue-Braun, Bruna V. Meneghetti, Thaiane Rispoli, Cristiane Kopacek, Karina Monteiro, Arnaldo Zaha, Maria L. R. Rossetti, Amit V. Pandey
Deficiency of Cytochrome P450 Steroid 21-hydroxylase (CYP21A2) represents 90% of cases in congenital adrenal hyperplasia (CAH), an autosomal recessive disease caused by defects in cortisol biosynthesis. Computational prediction along with functional
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1119f4d2996848e4c01d1f8c300204cf
https://doi.org/10.1101/2021.12.07.471616
https://doi.org/10.1101/2021.12.07.471616
