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Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia.
Silva RS, Carvalho B, Pedro J, Castro-Correia C, Carvalho D, Carvalho F, Fontoura M. Silva RS, et al. Among authors: carvalho b, carvalho f, carvalho d. Arch Endocrinol Metab. 2022 Apr 28;66(2):168-175. doi: 10.20945/2359-3997000000437. Epub 2022 Mar 14. Arch Endocrinol Metab. 2022. PMID: 35289513 Free PMC article.
Mutational characterization of steroid 21-hydroxylase gene in Portuguese patients with congenital adrenal hyperplasia.
Marques CJ, Pignatelli D, Carvalho B, Barceló J, Almeida AC, Fernandes S, Witchel SF, Sousa M, Oliveira MJ, Freitas P, Fontoura M, Carvalho D, Barros A, Carvalho F. Marques CJ, et al. Among authors: carvalho b, carvalho f, carvalho d. Exp Clin Endocrinol Diabetes. 2010 Aug;118(8):505-12. doi: 10.1055/s-0029-1237363. Epub 2009 Oct 23. Exp Clin Endocrinol Diabetes. 2010. PMID: 19856253
CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort.
Santos-Silva R, Cardoso R, Lopes L, Fonseca M, Espada F, Sampaio L, Brandão C, Antunes A, Bragança G, Coelho R, Bernardo T, Vieira P, Morais R, Leite AL, Ribeiro L, Carvalho B, Grangeia A, Oliveira R, Oliveira MJ, Rey V, Rosmaninho-Salgado J, Marques B, Garcia AM, Meireles A, Carvalho J, Sequeira A, Mirante A, Borges T; on behalf of the Portuguese Society of Pediatric Endocrinology and Diabetology. Santos-Silva R, et al. Among authors: carvalho b, carvalho j. Horm Res Paediatr. 2019;91(1):33-45. doi: 10.1159/000497485. Epub 2019 Mar 19. Horm Res Paediatr. 2019. PMID: 30889569 Clinical Trial.
1,097 results