Found: 18
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Adverse Outcomes and Economic Burden of Congenital Adrenal Hyperplasia Late Diagnosis in the Newborn Screening Absence.
- Published in:
- Journal of the Endocrine Society, 2020, v. 4, n. 2, p. N.PAG, doi. 10.1210/jendso/bvz013
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- Publication type:
- Article
Impact of Long-Term Dexamethasone Therapy on the Metabolic Profile of Patients With 21-Hydroxylase Deficiency.
- Published in:
- Journal of the Endocrine Society, 2019, v. 3, n. 8, p. 1574, doi. 10.1210/js.2019-00123
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- Publication type:
- Article
Premature Pubarche due to Exogenous Testosterone Gel or Intense Diaper Rash Prevention Cream Use: A Case Series.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 91, n. 6, p. 411, doi. 10.1159/000495664
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- Publication type:
- Article
Neonatal 17-hydroxyprogesterone levels adjusted according to age at sample collection and birthweight improve the efficacy of congenital adrenal hyperplasia newborn screening.
- Published in:
- Clinical Endocrinology, 2017, v. 86, n. 4, p. 480, doi. 10.1111/cen.13292
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- Publication type:
- Article
Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.
- Published in:
- European Journal of Endocrinology, 2016, v. 175, n. 2, p. 107, doi. 10.1530/EJE-16-0171
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- Publication type:
- Article
The Presence of Clitoromegaly in the Nonclassical Form of 21-Hydroxylase Deficiency Could Be Partially Modulated by the CAG Polymorphic Tract of the Androgen Receptor Gene.
- Published in:
- PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0148548
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- Publication type:
- Article
Quality of life of patients with 46, XX and 46, XY disorders of sex development.
- Published in:
- Clinical Endocrinology, 2015, v. 82, n. 2, p. 159, doi. 10.1111/cen.12561
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- Publication type:
- Article
Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre.
- Published in:
- Clinical Endocrinology, 2015, v. 82, n. 2, p. 274, doi. 10.1111/cen.12572
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- Publication type:
- 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
Obesity and Familial Predisposition Are Significant Determining Factors of an Adverse Metabolic Profile in Young Patients with Congenital Adrenal Hyperplasia.
- Published in:
- Hormone Research in Paediatrics, 2013, v. 80, n. 2, p. 111, doi. 10.1159/000353762
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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
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
Adrenal Nodules in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Regression after Adequate Hormonal Control.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2001, v. 14, n. 4, p. 415, doi. 10.1515/jpem.2001.14.4.415
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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
A Novel Missense Mutation, GLY424SER, in Brazilian Patients with 21-Hydroxylase Deficiency.
- Published in:
- 1999
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- Publication type:
- journal article
Low Frequency of CYP21B Deletions in Brazilian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
- Published in:
- Human Heredity, 1999, v. 49, n. 1, p. 9, doi. 10.1159/000022833
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- Publication type:
- 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