Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (Q34571853)

3 August 2017

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

1 reference

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

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3 August 2017

96

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3 August 2017

E161-72

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3 August 2017

1

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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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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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7 July 2018

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27 October 2018

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27 October 2018

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27 October 2018

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

27 October 2018

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27 October 2018

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27 October 2018

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27 October 2018

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

27 October 2018

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

27 October 2018

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27 October 2018

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

27 October 2018

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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

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

9 December 2018

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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

1 reference

3 August 2017

1 reference