Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Human genetics - 1 Apr 1994

Speiser P W, White P C, Dupont J, Zhu D, Mercado A B, New M I

Abstract excerpt

The feasibility and accuracy of gene-specific molecular genetic diagnosis for congenital adrenal hyperplasia due to 21-hydroxylase deficiency was studied in a group of 24 pregnancies at 25% risk of carrying an affected fetus. Chorionic villus sampling was performed at 9-10 weeks' gestation. Southern analysis and polymerase chain reaction, followed by allele-specific hybridization for a panel of nine known...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Base Sequence
Share to Blotting, Southern

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Primers

Share to Molecular Sequence Data

Share to Nucleic Acid Hybridization

Share to Pregnancy

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 8168813
DOI: 10.1007/BF00201668

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot.PMID 8168813Read ↗

Molecular genetic prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization.Semantic proximity Read ↗

Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency).Semantic proximity Read ↗

Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India.Semantic proximity Read ↗

Congenital adrenal hyperplasia due to 21‐hydroxylase deficiencySemantic proximity Read ↗

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Semantic proximity Read ↗

Prenatal diagnosis of congenital adrenal hyperplasia by direct detection of mutations in the steroid 21-hydroxylase gene.Semantic proximity Read ↗

Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA.Semantic proximity Read ↗

Using real-time, quantitative PCR for rapid genotyping of the steroid 21-hydroxylase gene in a north Florida population.Semantic proximity Read ↗

In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia.Semantic proximity Read ↗

Prenatal diagnosis and treatment of congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.Semantic proximity Read ↗

Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency.Semantic proximity Read ↗

Comprehensive Mutation Analysis of the CYP21A2 GeneSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.