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

Familial Prader-Willi syndrome: case report and a literature review.

Clinical genetics - 1 Sept 2000

McEntagart M E, Webb T, Hardy C, King M D

Abstract excerpt

Prader-Willi syndrome (PWS) is a neurobehavioural disorder arising through a number of different genetic mechanisms. All involve loss of paternal gene expression from chromosome 15q11q13. Although the majority of cases of PWS are sporadic, precise elucidation of the causative genetic mechanism is essential for accurate genetic counselling as the recurrence risk varies according to the mechanism involved. A pair...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 15
Share to DNA Methylation

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

Share to Genomic Imprinting

Share to Microsatellite Repeats

Share to Parents

Share to Pedigree

Share to Prader-Willi Syndrome

Source

Identifiers

PMID: 11076044
DOI: 10.1034/j.1399-0004.2000.580309.x

Genes

SNRPN

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

Familial Prader-Willi syndrome: case report and a literature review.PMID 11076044Read ↗

Prader-Willi and Angelman Syndromes: Mechanisms and Management.Semantic proximity Read ↗

Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome.Semantic proximity Read ↗

Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biologySemantic proximity Read ↗

Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report.Semantic proximity Read ↗

Prader-Willi syndrome: reflections on seminal studies and future therapies.Semantic proximity Read ↗

The Prader-Willi syndrome and the Angelman syndrome.Semantic proximity Read ↗

Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects.Semantic proximity Read ↗

Genotype-Phenotype Relationships and Endocrine Findings in Prader-Willi SyndromeSemantic proximity Read ↗

Prader-Willi Syndrome: Background and Management.Semantic proximity Read ↗

Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q.Semantic proximity Read ↗

Molecular diagnosis of Prader-Willi syndrome.Semantic proximity Read ↗

Prader-Willi syndrome.Semantic proximity Read ↗

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