(Q34571853)

3 August 2017

title

Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (English)

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congenital adrenal hyperplasia due to 21-hydroxylase deficiency

3 August 2017

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author name string

Gabriela P Finkielstain

1

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3 August 2017

Wuyan Chen

2

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3 August 2017

Sneha P Mehta

3

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3 August 2017

Frank K Fujimura

4

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3 August 2017

Reem M Hanna

5

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3 August 2017

Carol Van Ryzin

6

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3 August 2017

Nazli B McDonnell

7

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3 August 2017

Deborah P Merke

8

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3 August 2017

language of work or name

English

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publication date

6 October 2010

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The Journal of Clinical Endocrinology and Metabolism

3 August 2017

published in

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3 August 2017

volume

96

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3 August 2017

issue

1

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3 August 2017

page(s)

E161-72

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describes a project that uses

3 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3038490/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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Extraadrenal 21-hydroxylation by CYP2C19 and CYP3A4: effect on 21-hydroxylase deficiency.

7 July 2018

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High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency

7 July 2018

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7 July 2018

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7 July 2018

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Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis

7 July 2018

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Detection and assignment of CYP21 mutations using peptide mass signature genotyping

7 July 2018

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Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in caucasians. The load of RCCX genetic diversity on major histocompatibility complex-associated disease

7 July 2018

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High frequency of nonclassical steroid 21-hydroxylase deficiency

7 July 2018

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Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia.

7 July 2018

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Characterization of frequent deletions causing steroid 21-hydroxylase deficiency

7 July 2018

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Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency

7 July 2018

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Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

7 July 2018

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Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations

7 July 2018

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The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.

7 July 2018

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Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effect

27 October 2018

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Precocious pubarche: distinguishing late-onset congenital adrenal hyperplasia from premature adrenarche.

27 October 2018

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Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report.

27 October 2018

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Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients

27 October 2018

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Predisposition for de novo gene aberrations in the offspring of mothers with a duplicated CYP21A2 gene.

27 October 2018

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Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome.

27 October 2018

1 reference

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Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia

27 October 2018

1 reference

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Functional studies of two novel and two rare mutations in the 21-hydroxylase gene

27 October 2018

1 reference

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Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038490

Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038490

PCR-based detection of the CYP21 deletion and TNXA/TNXB hybrid in the RCCX module

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038490

Congenital adrenal hyperplasia.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038490

Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038490

Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038490

Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038490

Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038490

Microconversion betweenCYP21A2andCYP21A1PPromoter Regions Causes the Nonclassical Form of 21-Hydroxylase Deficiency

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038490

CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations

9 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038490

Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes

9 December 2018

1 reference

12 December 2020

Genotype and hormonal phenotype in nonclassical 21-hydroxylase deficiency

1 reference

12 December 2020

Effects of individual mutations in the P-450(C21) pseudogene on the P-450(C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency

1 reference

12 December 2020

Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene

1 reference

12 December 2020

Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation

1 reference

12 December 2020

Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency

1 reference

12 December 2020

Steroid 21-hydroxylase deficiency: genotype may not predict phenotype

1 reference

12 December 2020

Detection of steroid 21-hydroxylase alleles using gene-specific PCR and a multiplexed ligation detection reaction

1 reference

12 December 2020

Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: good correlation in a well defined population

1 reference

12 December 2020

Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability

1 reference

12 December 2020

Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia

1 reference

12 December 2020

Neonatal screening for congenital adrenal hyperplasia

1 reference

12 December 2020

Congenital adrenal hyperplasia

1 reference

12 December 2020

High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect

1 reference

12 December 2020

Three novel point mutations of the CYP21 gene detected in classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

12 December 2020

A simple and robust quantitative PCR assay to determine CYP21A2 gene dose in the diagnosis of 21-hydroxylase deficiency

1 reference

12 December 2020

Human complement components C4A and C4B genetic diversities: complex genotypes and phenotypes

1 reference

12 December 2020

Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany

1 reference

12 December 2020

Characterization of the CYP21 gene 5' flanking region in patients affected by 21-OH deficiency

1 reference

12 December 2020

How a patient homozygous for a 30-kb deletion of the C4-CYP 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency

1 reference

12 December 2020

Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions

1 reference

12 December 2020

Identifiers

DOI

10.1210/JC.2010-0319

1 reference

3 August 2017

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3 August 2017

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