Search Results - "Prado, Mayara J."

Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2 by Prado, Mayara J., Ligabue-Braun, Rodrigo, Zaha, Arnaldo, Rossetti, Maria Lucia Rosa, Pandey, Amit V.

“…CYP21A2 deficiency represents 95% of congenital adrenal hyperplasia (CAH) cases, a group of genetic disorders that affect steroid biosynthesis. The genetic and…”
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Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations by 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 V

“…Deficiency of 21-hydroxylase enzyme (CYP21A2) represents 90% of cases in congenital adrenal hyperplasia (CAH), an autosomal recessive disease caused by defects…”
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Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation by Kopacek, Cristiane, Prado, Mayara J., da Silva, Claudia M.D., de Castro, Simone M., Beltrão, Luciana A., Vargas, Paula R., Grandi, Tarciana, Rossetti, Maria L.R., Spritzer, Poli Mara

“…To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and…”
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Cystic Fibrosis: A Simple and Customized Strategy for Genetic Screening Able to Detect Over 90% of Identified Mutated Alleles in Brazilian Newborns by Rispoli, Thaiane, Rodrigues, Grazielle M., de Castro, Simone M., Prado, Mayara J., da Silva, Cláudia M. D., Grandi, Tarciana, Fischer, Gilberto B., Pinto, Leonardo A., Maróstica, Paulo J. C., Scortegagna, Laís C. R., Mocelin, Helena T., Vargas, José Eduardo, Rossetti, Maria L. R.

“…Introduction The incorporation of molecular genetic testing into cystic fibrosis (CF) screening programs increases the specificity of the diagnostic strategy…”
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Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation by Kopacek, Cristiane, Prado, Mayara J., da Silva, Claudia M.D., de Castro, Simone M., Beltrão, Luciana A., Vargas, Paula R., Grandi, Tarciana, Rossetti, Maria L.R., Spritzer, Poli Mara

“…To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and…”
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Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation by Kopacek, Cristiane, Prado, Mayara J., da Silva, Claudia M.D., de Castro, Simone M., Beltrão, Luciana A., Vargas, Paula R., Grandi, Tarciana, Rossetti, Maria L.R., Spritzer, Poli Mara

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