Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review (Q58735135)

13 March 2019

24 March 2019

22 April 2019

7 August 2019

28 September 2019

18 November 2019

14 December 2019

on focus list of Wikimedia project

29 May 2020

ScienceSource

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/s13048-018-0450-8

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cites work

A high rate of novel CYP11B1 mutations in Saudi Arabia.

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Congenital adrenal hyperplasia due to 11-hydroxylase deficiency-Compound heterozygous mutations of a prevalent and two novel CYP11B1 mutations.

30 November 2018

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Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

30 November 2018

1 reference

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A novel CYP11B1 mutation in a Turkish patient with 11β-hydroxylase deficiency: An association with the severe hypokalemia leading to rhabdomyolysis.

30 November 2018

1 reference

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Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.

30 November 2018

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A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy

30 November 2018

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Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency

30 November 2018

1 reference

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Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11β-hydroxylase deficiency

30 November 2018

1 reference

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Divergent gender identity in three siblings with 46XX karyotype and severely virilizing congenital adrenal hyperplasia caused by a novel CYP11B1 mutation.

30 November 2018

1 reference

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Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11 β -Hydroxylase Deficiency

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6139905

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations

30 November 2018

1 reference

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A diagnosis not to be missed: nonclassic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism

30 November 2018

1 reference

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A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiency

30 November 2018

1 reference

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Epidemiology, diagnosis and management of hirsutism: a consensus statement by the Androgen Excess and Polycystic Ovary Syndrome Society.

30 November 2018

1 reference

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Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11β-hydroxylase deficiency in a Chinese patient.

30 November 2018

1 reference

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Only two mutations detected in 15 Tunisian patients with 11β-hydroxylase deficiency: the p.Q356X and the novel p.G379V.

30 November 2018

1 reference

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Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency

30 November 2018

1 reference

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Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q).

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6139905

A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46,XX individuals with 11-beta-hydroxylase deficiency

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6139905

Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6139905

Congenital adrenal hyperplasia in a Nigerian child with a novel compound heterozygote mutation in CYP11B1.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6139905

What common structural features and variations of mammalian P450s are known to date?

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6139905

Steroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation, p.G314R, in one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6139905

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6139905

Prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia

30 November 2018

1 reference

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Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6139905

CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6139905

Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6139905

CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6139905

Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6139905

A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6139905

Update on the prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency

30 November 2018

1 reference

12 December 2020

21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia

1 reference

12 December 2020

Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency

1 reference

12 December 2020

Functional effects of genetic variants in the 11beta-hydroxylase (CYP11B1) gene

1 reference

12 December 2020