Found: 11
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A diagnosis not to be missed: nonclassic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism.
- Published in:
- 2013
- By:
- Publication type:
- journal article
A novel entity of clinically isolated adrenal insufficiency caused by a partially inactivating mutation of the gene encoding for P450 side chain cleavage enzyme (CYP11A1).
- Published in:
- 2011
- By:
- Publication type:
- journal article
High Frequency of Copy Number Variations and Sequence Variants at CYP21A2 Locus: Implication for the Genetic Diagnosis of 21-Hydroxylase Deficiency.
- Published in:
- PLoS ONE, 2008, v. 3, n. 5, p. 1, doi. 10.1371/journal.pone.0002138
- By:
- Publication type:
- Article
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X).
- Published in:
- European Journal of Endocrinology, 2012, v. 167, n. 6, p. 881, doi. 10.1530/EJE-12-0450
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- Publication type:
- Article
Low Estriol Levels in the Maternal Marker Screen as a Predictor of X-Linked Adrenal Hypoplasia Congenita: Case Report.
- Published in:
- Srpski Arhiv za Celokupno Lekarstvo, 2014, v. 142, n. 11/12, p. 728, doi. 10.2298/SARH1412728D
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- Publication type:
- Article
Genetic study of the hepcidin gene (HAMP) promoter and functional analysis of the c.-582A > G variant.
- Published in:
- BMC Genetics, 2010, v. 11, p. 110, doi. 10.1186/1471-2156-11-110
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- Publication type:
- Article
Influence of 17-Hydroxyprogesterone, Progesterone and Sex Steroids on Mineralocorticoid Receptor Transactivation in Congenital Adrenal Hyperplasia.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 83, n. 6, p. 414, doi. 10.1159/000374112
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- Publication type:
- Article
Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E443, doi. 10.1002/humu.20926
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- Publication type:
- Article
Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency.
- Published in:
- Clinical Endocrinology, 2015, v. 83, n. 5, p. 629, doi. 10.1111/cen.12834
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- Publication type:
- Article
High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect.
- Published in:
- Clinical Endocrinology, 2006, v. 64, n. 3, p. 330, doi. 10.1111/j.1365-2265.2006.02465.x
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- Publication type:
- Article