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Newborn Screening for Congenital Adrenal Hyperplasia.
- Published in:
- Pediatric Annals, 2003, v. 32, n. 8, p. 516, doi. 10.3928/0090-4481-20030801-09
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- Article
The Hormonal Phenotype of Nonclassic 3β-Hydroxysteroid Dehydrogenase (HSD3B) Deficiency in Hyperandrogenic Females Is Associated with Insulin-Resistant Polycystic Ovary Syndrome and Is Not a Variant of Inherited HSD3B2 Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 2, p. 783, doi. 10.1210/jc.2003-030934
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- Article
Newly Proposed Hormonal Criteria via Genotypic Proof for Type II 3β-Hydroxysteroid Dehydrogenase Deficiency.
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- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 6, p. 2611, doi. 10.1210/jcem.87.6.8615
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- Article
A Novel Nonstop Mutation in the Stop Codon and a Novel Missense Mutation in the Type II 3β-Hydroxysteroid Dehydrogenase (3β-HSD) Gene Causing, Respectively, Nonclassic and Classic 3β-HSD Deficiency Congenital Adrenal Hyperplasia.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 6, p. 2556, doi. 10.1210/jcem.87.6.8559
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- Article
Missense Mutations Cluster within the Carboxyl-Terminal Region of DAX-1 and Impair Transcriptional Repression.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 7, p. 3171, doi. 10.1210/jcem.86.7.7660
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- Article
Clinical and Functional Effects of Mutations in the DAX-1 Gene in Patients with Adrenal Hypoplasia Congenita.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 2, p. 504, doi. 10.1210/jcem.84.2.5468
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- Article
Studies of 3β-Hydroxysteroid Dehydrogenase Genes in Infants and Children Manifesting Premature Pubarche and Increased Adrenocorticotropic-Stimulated Δ<sup>5</sup> Steroid Levels.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1996, v. 81, n. 11, p. 3961, doi. 10.1210/jc.81.11.3961
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- Article
A New Compound Heterozygous Frameshift Mutation in the Type II 3β-Hydroxysteroid Dehydrogenase (3β-HSD) Gene Causes Salt-Wasting 3β-HSD Deficiency Congenital Adrenal Hyperplasia.
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- Journal of Clinical Endocrinology & Metabolism, 1996, v. 81, n. 1, p. 291, doi. 10.1210/jc.81.1.291
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- Article
Pitfalls of Prenatal Diagnosis of 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1985, v. 458, n. 1, p. 111, doi. 10.1111/j.1749-6632.1985.tb14597.x
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- Article
Newborn Screening for Congenital Adrenal Hyperplasia with Special Reference to Screening in Alaska<sup>a</sup>.
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- Annals of the New York Academy of Sciences, 1985, v. 458, n. 1, p. 90, doi. 10.1111/j.1749-6632.1985.tb14595.x
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- Article
Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia.
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- Journal of Pediatric Endocrinology & Metabolism, 1994, v. 7, n. 3, p. 193, doi. 10.1515/jpem.1994.7.3.193
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- Article
Eosinophilie Granuloma Presenting as Hypothyroidism and Goiter.
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- Journal of Pediatric Endocrinology & Metabolism, 1989, v. 3, n. 3, p. 181
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- Article
Extra-adrenal induction of Cyp21a1 ameliorates systemic steroid metabolism in a mouse model of congenital adrenal hyperplasia.
- Published in:
- Endocrine Journal, 2016, v. 63, n. 10, p. 897, doi. 10.1507/endocrj.ej16-0112
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- Article
Carriers for type II 3β-hydroxysteroid dehydrogenase (HSD3B2) deficiency can only be identified by HSD3B2 genotype study and not by hormone test.
- Published in:
- Clinical Endocrinology, 2003, v. 58, n. 3, p. 323, doi. 10.1046/j.1365-2265.2003.01716.x
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- Article