(Q35789890)

English

Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency).

scientific article published on May 2005

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency). (English)

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

congenital disorder

0 references

congenital adrenal hyperplasia

1 reference

based on heuristic

inferred from title

author name string

Dianne Keen-Kim

1

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Joy B Redman

2

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Reno U Alanes

3

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Michele M Eachus

4

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Robert C Wilson

5

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Maria I New

6

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Jon M Nakamoto

7

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Raymond G Fenwick

8

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 May 2005

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

The Journal of Molecular Diagnostics

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

7

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

236-246

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Europe PubMed Central

PubMed publication ID

10 August 2017

Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867523

12 July 2018

An overview of molecular diagnosis of steroid 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867523

12 July 2018

Newborn screening for congenital adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867523

12 July 2018

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867523

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867523

12 July 2018

Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867523

12 July 2018

Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867523

12 July 2018

Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867523

12 July 2018

Disorders of Aldosterone Secretion in Childhood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867523

12 July 2018

Structure of human steroid 21-hydroxylase genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867523

12 July 2018

Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867523

12 July 2018

Characterization of frequent deletions causing steroid 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867523

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867523

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867523

12 July 2018

Prenatal treatment of congenital adrenal hyperplasia: a promising experimental therapy of unproven safety

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867523

25 September 2018

The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867523

25 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867523

25 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867523

25 September 2018

Prenatal treatment of congenital adrenal hyperplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15858147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Using real-time, quantitative PCR for rapid genotyping of the steroid 21-hydroxylase gene in a north Florida population

1 reference

https://pubmed.ncbi.nlm.nih.gov/15858147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15858147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Steroid 21-hydroxylase deficiency: genotype may not predict phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/15858147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15858147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot

1 reference

https://pubmed.ncbi.nlm.nih.gov/15858147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A rare duplicated 21-hydroxylase haplotype and a de novo mutation: a family analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15858147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies

1 reference

https://pubmed.ncbi.nlm.nih.gov/15858147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid screening method for detecting mutations in the 21-hydroxylase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/15858147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15858147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15858147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of steroid-21-hydroxylase

1 reference

https://pubmed.ncbi.nlm.nih.gov/15858147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15858147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of nonclassical steroid 21-hydroxylase deficiency based on a morning salivary 17-hydroxyprogesterone screening test: a small sample study

1 reference

https://pubmed.ncbi.nlm.nih.gov/15858147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15858147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Prenatal molecular genetic diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency]

1 reference

https://pubmed.ncbi.nlm.nih.gov/15858147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1525-1578%2810%2960550-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder

1 reference

https://api.crossref.org/works/10.1016%2FS1525-1578%2810%2960550-8

7 January 2021

based on heuristic

inferred from DOI database lookup

EXTENSIVE PERSONAL EXPERIENCE: Prenatal Diagnosis for Congenital Adrenal Hyperplasia in 532 Pregnancies

1 reference

https://api.crossref.org/works/10.1016%2FS1525-1578%2810%2960550-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S1525-1578(10)60550-8

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

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