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

Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.

1 May 1997

Abstract excerpt

Angelman syndrome (AS) is a complex neurological disorder with different genetic aetiologies. It is not known whether the clinical features vary depending on the genetic mechanism. We report four patients with AS owing to uniparental disomy (UPD). There were two males and two females, with a mean age of 8 years (range 7 to 11 years). All patients had a happy disposition, hyperactive behaviour, and the...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Syndromes and Imprinting
Share to Prenatal Screening and Diagnostics

Source

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

Identifiers

PMID: 9152844
DOI: 10.1136/jmg.34.5.426

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

Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.PMID 9152844Read ↗

Angelman syndrome: evolution of the phenotype in adolescents and adults.Semantic proximity Read ↗

Angelman syndrome: a review of the clinical and genetic aspects.Semantic proximity Read ↗

Clinical aspects of a large group of adults with Angelman syndrome.Semantic proximity Read ↗

Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.Semantic proximity Read ↗

[Genetic and clinical diagnosis of Angelman syndrome. Case Reviews].Semantic proximity Read ↗

Angelman syndrome: a review of clinical and genetic aspects.Semantic proximity Read ↗

[Angelman syndrome: clinical and genetic model].Semantic proximity Read ↗

Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?Semantic proximity Read ↗

An overview of health issues and development in a large clinical cohort of children with Angelman syndrome.Semantic proximity Read ↗

Angelman syndrome: mimicking conditions and phenotypes.Semantic proximity Read ↗

Angelman syndrome — insights into a rare neurogenetic disorderSemantic proximity Read ↗

Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.Semantic proximity Read ↗

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