(Q35431460)

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Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis (English)

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

1 reference

based on heuristic

inferred from title

author name string

M Lako

1

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

S Ramsden

2

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

R D Campbell

3

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

T Strachan

4

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

language of work or name

0 references

publication date

1 February 1999

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

36

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

119-124

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734295

27 July 2018

Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734295

27 July 2018

Alternate promoters and alternate splicing of human tenascin-X, a gene with 5' and 3' ends buried in other genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734295

27 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=1734295

27 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=1734295

27 July 2018

Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734295

27 July 2018

Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734295

27 July 2018

Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734295

27 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=1734295

27 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=1734295

27 July 2018

Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734295

27 July 2018

Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for 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=1734295

27 July 2018

Pulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734295

27 July 2018

21-hydroxylase deficiency families with HLA identical affected and unaffected sibs.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734295

27 July 2018

Genesis by meiotic unequal crossover of a de novo deletion that contributes to 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=1734295

27 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=1734295

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734295

26 September 2018

Mapping of 10 novel microsatellites in the MHC class III region: application to the study of autoimmune disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/10051010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of congenital adrenal hyperplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10051010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Extended MHC haplotypes and CYP21/C4 gene organisation in Irish 21-hydroxylase deficiency families

1 reference

https://pubmed.ncbi.nlm.nih.gov/10051010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/10051010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CYP21/C4 gene organisation in Italian 21-hydroxylase deficiency families

1 reference

https://pubmed.ncbi.nlm.nih.gov/10051010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10051010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A steroid 21-hydroxylase allele concomitantly carrying four disease-causing mutations is not uncommon in the swedish population

1 reference

https://pubmed.ncbi.nlm.nih.gov/10051010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10051010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular pathology of 21-hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/10051010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/10051010

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/10051010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of steroid 21-hydroxylase gene mutations in the Spanish population

1 reference

https://pubmed.ncbi.nlm.nih.gov/10051010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10051010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Low frequency of deletion alleles in patients with steroid 21-hydroxylase deficiency in a Mexican population

1 reference

https://pubmed.ncbi.nlm.nih.gov/10051010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Point mutations in Italian patients with classic, non-classic, and cryptic forms of steroid 21-hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/10051010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees

1 reference

https://pubmed.ncbi.nlm.nih.gov/10051010

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/10051010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

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