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

Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms.

American journal of medical genetics - 1 Aug 1994

Lerer I, Meiner V, Pashut-Lavon I, Abeliovich D

Abstract excerpt

We describe our experience in the molecular diagnosis of 22 patients suspected of Prader-Willi syndrome (PWS) using a DNA probe PW71 (D15S63) which detects a parent-of-origin specific methylated site in the PWS critical region. The cause of the syndrome was determined as deletion or uniparental disomy according to the segregation of (CA)n dinucleotide repeat polymorphisms of the PWS/AS region and more distal...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Alleles

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

Share to Base Sequence

Share to Chromosome Mapping

Share to DNA Primers

Share to Molecular Sequence Data

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 7977468
DOI: 10.1002/ajmg.1320520116

Genes

GABRA5
GABRB3

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

Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms.PMID 7977468Read ↗

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndromeSemantic proximity Read ↗

DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).Semantic proximity Read ↗

Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications.Semantic proximity Read ↗

A 28-kb deletion spanning D15S63 (PW71) in five families: a rare neutral variant?Semantic proximity Read ↗

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13Semantic proximity Read ↗

Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).Semantic proximity Read ↗

Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region.Semantic proximity Read ↗

[Molecular diagnosis of Prader-Willi and Angelman syndromes: methylation, cytogenetics and FISH analysis].Semantic proximity Read ↗

Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.Semantic proximity Read ↗

Prader-Willi syndrome: genetic tests and clinical findings.Semantic proximity Read ↗

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.Semantic proximity Read ↗

Imprinted Segments in the Human Genome: Different Dna Methylation Patterns in the Prader-Willi/Angelman Syndrome Region As Determined by the Genomic Sequencing MethodSemantic proximity Read ↗

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