(Q24619813)

congenital adrenal hyperplasia

inferred from title

1 reference

1 reference

Maria I New

1

0 references

Moolamannil Abraham

2

0 references

Brian Gonzalez

3

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Miroslav Dumic

4

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Maryam Razzaghy-Azar

5

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David Chitayat

6

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Li Sun

7

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Mone Zaidi

8

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Robert C Wilson

9

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Tony Yuen

Proceedings of the National Academy of Sciences of the United States of America

10

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language of work or name

English

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publication date

12 February 2013

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published in

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volume

110

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issue

7

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page(s)

2611-6

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cites work

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574953

A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574953

Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574953

Mutation analysis of the CYP21A2 gene in the Iranian population

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574953

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574953

Extensive clinical experience: nonclassical 21-hydroxylase deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574953

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574953

Abundant adrenal-specific transcription of the human P450c21A "pseudogene".

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574953

Genotyping Steroid 21-Hydroxylase Deficiency: Hormonal Reference Data*

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574953

Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574953

A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574953

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574953

Function and membrane topology of wild-type and mutated cytochrome P-450c21

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574953

Difference in transcriptional activity of two homologous CYP21A genes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574953

Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574953

Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574953

A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574953

Functional analysis of mutant P450(C21) genes in COS cell expression system

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574953

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

30 May 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1300057110

Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1300057110

Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1300057110

Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1300057110

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1300057110

Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1300057110

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1300057110

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1300057110

A sequence variation in 3'UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574953

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

28 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

The common I172N mutation causes conformational change of cytochrome P450c21 revealed by systematic mutation, kinetic, and structural studies

1 reference

12 December 2020

A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction

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

Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations

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

Molecular defects of the CYP21A2 gene in Greek-Cypriot patients with congenital adrenal hyperplasia

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.1300057110

1 reference

4606773

ADS bibcode

2013PNAS..110.2611N

0 references

4606773

1 reference

1 reference

1 reference