(Q41161240)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8867587%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

review article

1 reference

title

Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8867587%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

0 references

A Wedell

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8867587%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

language of work or name

1 reference

1 March 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8867587%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

number of pages

13

1 reference

Clinics in laboratory medicine

inferred from page(s)

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8867587%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

volume

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8867587%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8867587%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

page(s)

125-137

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8867587%20AND%20SRC:MED&resulttype=core&format=json

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

20 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency).

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

Prenatal treatment in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: up-date 88 of the French multicentric study

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

Nonsense mutation causing steroid 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

Haplotypes of the steroid 21-hydroxylase gene region encoding mild steroid 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

Prenatal treatment of congenital adrenal hyperplasia: report of a new case

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

Molecular and clinical advances in congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

Molecular biology of steroid hormone synthesis

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

The molecular genetics of 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

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://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

Clinical and endocrinological aspects of 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

Prenatal diagnosis and treatment of adrenogenital syndrome (steroid 21-hydroxylase deficiency).

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

Microfilter paper method for 17 alpha-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

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%2FS0272-2712%2818%2930291-9

7 January 2021

Determination of deletion sizes in the MHC-linked complement C4 and steroid 21-hydroxylase genes by pulsed-field gel electrophoresis

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

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://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

Structure of human steroid 21-hydroxylase genes

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

Congenital adrenal hyperplasia. (1).

1 reference

https://api.crossref.org/works/10.1016%2FS0272-2712%2818%2930291-9

7 January 2021

10.1016/S0272-2712(18)30291-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8867587%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference