(Q34246296)

31 July 2017

1 reference

title

Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency (English)

1 reference

congenital adrenal hyperplasia

31 July 2017

0 references

1 reference

Pang S

1

1 reference

31 July 2017

1 March 2001

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Endocrinology and Metabolism Clinics of North America

31 July 2017

1 reference

31 July 2017

30

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31 July 2017

1

1 reference

31 July 2017

81-99, vi-vii

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Metabolism of dehydroepiandrosterone by hormone dependent and hormone independent human breast carcinoma

31 July 2017

1 reference

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7 January 2021

Pituitary-ovarian responses to nafarelin testing in the polycystic ovary syndrome

1 reference

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7 January 2021

Assignment of the human 3 beta-hydroxysteroid dehydrogenase gene (HSDB3) to the p13 band of chromosome 1

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

The adrenogenital syndrome with deficiency of 3 beta-hydroxysteroid dehydrogenase

1 reference

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7 January 2021

Mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene in a patient with classic salt-wasting 3 beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia

1 reference

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7 January 2021

Absence of molecular defect in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene in premature pubarche children and hirsute female patients with moderately decreased adrenal 3 beta-HSD activity

1 reference

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7 January 2021

3 beta-hydroxysteroid isomerase dehydrogenase in guinea-pig kidney: possible involvement in 11-deoxycorticosterone formation in situ

1 reference

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7 January 2021

Characterization, expression, and immunohistochemical localization of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase in human skin

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

Analysis of membrane and surface protein sequences with the hydrophobic moment plot

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

Secondary biosynthetic defects in women with late-onset congenital adrenal hyperplasia

1 reference

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7 January 2021

Abnormal Adrenal Responses to Adrenocorticotropic Hormone in Hyperandrogenic Women

1 reference

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7 January 2021

Plasma and urinary steroids in an eight-year-old boy with 3-beta-hydxysteroid dehydrogenase deficiency

1 reference

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7 January 2021

A novel missense mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

The detection and classification of membrane-spanning proteins.

1 reference

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7 January 2021

Structure, function and tissue-specific gene expression of 3β-hydroxysteroid dehydrogenase/5-ene-4-ene isomerase enzymes in classical and peripheral intracrine steroidogenic tissues

1 reference

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7 January 2021

Structure of the Human Type II 3β-Hydroxysteroid Dehydrogenase/Δ5-Δ4Isomerase (3β-HSD) Gene: Adrenal and Gonadal Specificity

1 reference

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7 January 2021

Delta4-3 beta-hydroxysteroid dehydrogenase activity in rat liver. Intracellular distribution and sex dependency

1 reference

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7 January 2021

Structural analysis of the gene encoding human 3 beta-hydroxysteroid dehydrogenase/delta 5----4-isomerase

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

Full length cDNA structure and deduced amino acid sequence of human 3 beta-hydroxy-5-ene steroid dehydrogenase

1 reference

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7 January 2021

The 3beta-hydroxysteroid dehydrogenase gene family of enzymes

1 reference

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7 January 2021

Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene

1 reference

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7 January 2021

Male pseudohermaphroditism due to nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency: gender role change and absence of gynecomastia at puberty

1 reference

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7 January 2021

Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

Genotyping of the type II 3β-hydroxysteroid dehydrogenase gene (HSD3B2) in women with hirsutism and elevated ACTH-stimulated δ5-steroids

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

New Insight into the Molecular Basis of 3 -Hydroxysteroid Dehydrogenase Deficiency: Identification of Eight Mutations in the HSD3B2 Gene in Eleven Patients from Seven New Families and Comparison of the Functional Properties of Twenty-Five Mutant Enzy

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

Nonsalt-Losing Congenital Adrenal Hyperplasia due to 3β-Hydroxysteroid Dehydrogenase Deficiency with Normal Glomerulosa Function*

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

Late-onset adrenal steroid 3 beta-hydroxysteroid dehydrogenase deficiency. I. A cause of hirsutism in pubertal and postpubertal women

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

Congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

The molecular and clinical spectrum of 3beta-hydroxysteroid dehydrogenase deficiency disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

A conformational preference parameter to predict helices in integral membrane proteins.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

Structure and expression of a new complementary DNA encoding the almost exclusive 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase in human adrenals and gonads

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

Identification and characterization of the G15D mutation found in a male patient with 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency: alteration of the putative NAD-binding domain of type II 3 beta-HSD.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

Pubertal Presentation of Congenital Δ5–-3β–Hydroxysteroid Dehydrogenase Deficiency*

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

Mutation in the human gene for 3 beta-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

Functional characterization of the novel L108W and P186L mutations detected in the type II 3 beta-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

Persistent testicular delta5-isomerase-3beta-hydroxysteroid dehydrogenase (delta5-3beta-HSD) deficiency in the delta5-3beta-HSD form of congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

Molecular basis of congenital adrenal hyperplasia due to 3 beta- hydroxysteroid dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273 delta AA in type II 3 beta-hydroxysteroid dehydrogenase gene (HSD3B2) in three male patients of Afghan/Pakistani origin

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

Molecular analysis of type II 3 beta-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 beta-hydroxysteroid dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

Genetic defects of steroidogenesis in premature pubarche

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

3&beta;-Hydroxysteroid Dehydrogenase Deficiency Follow-Up Study in a Girl with Pubertal Bone Age

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

Human placental 3 beta-hydroxy-5-ene-steroid dehydrogenase and steroid 5----4-ene-isomerase: purification from microsomes, substrate kinetics, and inhibition by product steroids

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970020-3

7 January 2021

10.1016/S0889-8529(08)70020-3

Identifiers

DOI

1 reference

31 July 2017

1 reference

PubMed ID

11344940