Found: 18
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Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency.
- Published in:
- 2007
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- Publication type:
- journal article
Deletion Mapping of Chromosome 17 in Benign and Malignant Adrenocortical Tumors Associated with the Arg337His Mutation of the p53 Tumor Suppressor Protein.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 5, p. 2976, doi. 10.1210/jc.2004-0963
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- Publication type:
- Article
A Microdeletion in the Ligand Binding Domain of Human Steroidogenic Factor 1 Causes XY Sex Reversal without Adrenal Insufficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 4, p. 1767, doi. 10.1210/jc.2003-031240
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- Publication type:
- Article
Familial Hyperestrogenism in Both Sexes: Clinical, Hormonal, and Molecular Studies of Two Siblings.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 7, p. 3027, doi. 10.1210/jc.2002-021780
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- Publication type:
- Article
Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 7, p. 3241, doi. 10.1210/jc.2002-021658
- By:
- Publication type:
- Article
Familial Hyperestrogenism in Both Sexes: Clinical, Hormonal, and Molecular Studies of Two Siblings.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 7, p. 3027, doi. 10.1210/jc.2002-021780
- By:
- 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
- By:
- Publication type:
- journal article
A Novel Missense Mutation, GLY424SER, in Brazilian Patients with 21-Hydroxylase Deficiency.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Molecular Genotyping in Brazilian Patients with the Classical and Nonclassical Forms of 21-Hydroxylase Deficiency*.
- Published in:
- 1998
- By:
- Publication type:
- journal 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
Could the Leukocyte X Chromosome Inactivation Pattern Be Extrapolated to Hair Bulbs?
- Published in:
- Hormone Research in Paediatrics, 2010, v. 73, n. 4, p. 238, doi. 10.1159/000284387
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- Publication type:
- Article
Defective Organification of Iodide Causing Hereditary Goitrous Hypothyroidism.
- Published in:
- Thyroid, 1993, v. 3, n. 2, p. 143, doi. 10.1089/thy.1993.3.143
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- Publication type:
- Article
A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome.
- Published in:
- Human Mutation, 1999, v. 14, n. 4, p. 353, doi. 10.1002/(SICI)1098-1004(199910)14:4<353::AID-HUMU16>3.0.CO;2-7
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- Publication type:
- 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
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.
- Published in:
- 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
Maternal isodisomy causing homozygosity for a dominant activating mutation of the luteinizing hormone receptor gene in a boy with familial male-limited precocious puberty.
- Published in:
- 2003
- By:
- Publication type:
- Letter
Distribution of HLA-DQA1, LDLR, GYPA, HBGG, D738 and Gc Alleles in a Black Population Sample from São Paulo, Brazil.
- Published in:
- Journal of Forensic Sciences, 2004, v. 49, n. 6, p. 1374
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- Publication type:
- Article