Family studies of the steroid 21-hydroxylase and complement C4 genes define 11 haplotypes in classical congenital adrenal hyperplasia in The Netherlands (Q67975585)

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scientific article published on 01 December 1992

Language	Label	Description	Also known as
English	Family studies of the steroid 21-hydroxylase and complement C4 genes define 11 haplotypes in classical congenital adrenal hyperplasia in The Netherlands	scientific article published on 01 December 1992

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scholarly article

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20 September 2019

Family studies of the steroid 21-hydroxylase and complement C4 genes define 11 haplotypes in classical congenital adrenal hyperplasia in The Netherlands (English)

1 reference

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20 September 2019

congenital adrenal hyperplasia

1 reference

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author name string

P F Koppens

1

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20 September 2019

T Hoogenboezem

2

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20 September 2019

D J Halley

3

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20 September 2019

C A Barendse

4

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20 September 2019

A J Oostenbrink

5

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20 September 2019

H J Degenhart

6

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20 September 2019

publication date

1 December 1992

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20 September 2019

European Journal of Pediatrics

1 reference

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20 September 2019

151

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20 September 2019

12

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20 September 2019

885-892

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20 September 2019

https://scigraph.springernature.com/pub.10.1007/bf01954123

0 references

Heterogeneity of human C4 gene size. A large intron (6.5 kb) is present in all C4A genes and some C4B genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A highly polymorphic locus in human DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two distinct areas of unequal crossingover within the steroid 21-hydroxylase genes produce absence of CYP21B

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital adrenal hyperplasia (2).

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Major-histocompatibility-complex gene markers and restriction-fragment analysis of steroid 21-hydroxylase (CYP21) and complement C4 genes in classical congenital adrenal hyperplasia patients in a single population

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple regulatory elements determine adrenocortical expression of steroid 21-hydroxylase.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Definitive RFLPs to distinguish between the human complement C4A/C4B isotypes and the major Rodgers/Chido determinants: application to the study of C4 null alleles

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rearrangement of 21-hydroxylase genes in disease-associated MHC supratypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The structural basis of the multiple forms of human complement component C4.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of mutations causing steroid 21-hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

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/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of human steroid 21-hydroxylase genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency).

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneity in the gene locus for steroid 21-hydroxylase deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital adrenal hyperplasia: molecular mechanisms resulting in 21-hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of frequent deletions causing steroid 21-hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

C4 DNA RFLP reference typing report

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An estimate of unique DNA sequence heterozygosity in the human genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The molecular genetics of 21-hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular and clinical advances in congenital adrenal hyperplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital adrenal hyperplasia. (1).

1 reference

https://pubmed.ncbi.nlm.nih.gov/1473541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF01954123

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1473541%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

Dimensions Publication ID

0 references

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1473541%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

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