(Q72387780)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168813%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168813%20AND%20SRC:MED&resulttype=core&format=json

congenital adrenal hyperplasia due to 21-hydroxylase deficiency

26 October 2019

main subject

0 references

author name string

P W Speiser

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168813%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

P C White

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168813%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

J Dupont

3

1 reference

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26 October 2019

D Zhu

4

1 reference

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26 October 2019

A B Mercado

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168813%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

M I New

6

1 reference

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26 October 2019

publication date

1 April 1994

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26 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168813%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

volume

93

1 reference

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26 October 2019

issue

4

1 reference

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26 October 2019

page(s)

424-428

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf00201668

26 October 2019

exact match

0 references

cites work

HLA typing of amniotic-fluid cells applied to prenatal diagnosis of congenital adrenal hyperplasia

1 reference

12 December 2020

Hypervariable 'minisatellite' regions in human DNA.

1 reference

12 December 2020

A highly polymorphic locus in human DNA

1 reference

12 December 2020

Direct analysis of CYP21B genes in 21-hydroxylase deficiency using polymerase chain reaction amplification

1 reference

12 December 2020

Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction

1 reference

12 December 2020

Diagnosis of the adrenogenital syndrome before birth

1 reference

12 December 2020

In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia

1 reference

12 December 2020

First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination

1 reference

12 December 2020

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

1 reference

12 December 2020

Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction

1 reference

12 December 2020

HLA-A,B,C,DR typing and 17-OHP determination for second trimester prenatal diagnosis of 21-hydroxylase deficient CAH.

1 reference

12 December 2020

Analysis of mutations causing steroid 21-hydroxylase deficiency

1 reference

12 December 2020

Prenatal diagnosis of congenital adrenal hyperplasia

1 reference

12 December 2020

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

1 reference

12 December 2020

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

1 reference

12 December 2020

Pitfalls of prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia

1 reference

12 December 2020

Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein

1 reference

12 December 2020

Characterization of frequent deletions causing steroid 21-hydroxylase deficiency

1 reference

12 December 2020

Elevated amniotic fluid concentration of 17 α-hydroxyprogesterone in congenital adrenal hyperplasia

1 reference

12 December 2020

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

1 reference

12 December 2020

Genotyping Steroid 21-Hydroxylase Deficiency: Hormonal Reference Data*

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular pathology of congenital adrenal hyperplasia

1 reference

12 December 2020

Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia by simultaneous radioimmunoassay of 21-deoxycortisol and 17-hydroxyprogesterone in amniotic fluid

1 reference

12 December 2020

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

1 reference

12 December 2020

Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

12 December 2020

Prenatal diagnosis of adrenogenital syndrome by amniocentesis

1 reference

12 December 2020

Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) by HLA typing

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00201668

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168813%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference