Found: 17
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Impact of Glucocorticoid Receptor Gene Polymorphisms on the Metabolic Profile of Adult Patients with the Classical Form of 21-Hydroxylase Deficiency.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0044893
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- Article
Novel Mutations in CYP11B1 Gene Leading to 11β-Hydroxylase Deficiency in Brazilian Patients.
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- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 9, p. 3481, doi. 10.1210/jc.2008-2521
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- Article
Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency.
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- 2007
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- Publication type:
- journal article
Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect.
- Published in:
- 2002
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- Publication type:
- journal article
Variable ACTH-stimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations.
- Published in:
- 2002
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- Publication type:
- journal article
A Novel Missense Mutation, GLY424SER, in Brazilian Patients with 21-Hydroxylase Deficiency.
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- 1999
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- Publication type:
- journal article
Molecular Genotyping in Brazilian Patients with the Classical and Nonclassical Forms of 21-Hydroxylase Deficiency*.
- Published in:
- 1998
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- Publication type:
- journal article
The actual incidence of congenital adrenal hyperplasia in Brazil may not be as high as inferred--an estimate based on a public neonatal screening program in the state of Goiás.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2008, v. 21, n. 5, p. 455, doi. 10.1515/jpem.2008.21.5.455
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- Article
Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: a retrospective multicenter cohort study.
- Published in:
- European Journal of Endocrinology, 2023, v. 189, n. 4, p. 460, doi. 10.1093/ejendo/lvad143
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- Article
Editorial: Molecular -genetic causes underlying primary adrenal insufficiency: Current insights into diagnosis and treatment.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.995151
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- Article
Increased expression of ACTH (MC2R) and androgen (AR) receptors in giant bilateral myelolipomas from patients with congenital adrenal hyperplasia.
- Published in:
- BMC Endocrine Disorders, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1472-6823-14-42
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- Article
Influence of the A3669G Glucocorticoid Receptor Gene Polymorphism on the Metabolic Profile of Pediatric Patients with Congenital Adrenal Hyperplasia.
- Published in:
- International Journal of Endocrinology, 2014, p. 1, doi. 10.1155/2014/594710
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- Publication type:
- Article
Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry.
- Published in:
- Clinical Endocrinology, 2022, v. 97, n. 5, p. 551, doi. 10.1111/cen.14796
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- Publication type:
- Article
Superior discriminating value of ACTH-stimulated serum 21-deoxycortisol in identifying heterozygote carriers for 21-hydroxylase deficiency F. A. Costa-Barbosa et al. 21DF for detection of 21OHD carriers.
- Published in:
- Clinical Endocrinology, 2010, v. 73, n. 6, p. 700, doi. 10.1111/j.1365-2265.2010.03871.x
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- Publication type:
- Article
The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene.
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- Clinical Endocrinology, 2008, v. 68, n. 2, p. 226, doi. 10.1111/j.1365-2265.2007.03023.x
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- Publication type:
- Article
Substitutions in theCYP21A2promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation.
- Published in:
- Clinical Endocrinology, 2005, v. 62, n. 2, p. 132, doi. 10.1111/j.1365-2265.2005.02184.x
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- Publication type:
- Article
Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
- Published in:
- Clinical Endocrinology, 2000, v. 52, n. 5, p. 601, doi. 10.1046/j.1365-2265.2000.00995.x
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- Publication type:
- Article