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

Mutation Update for UBE3A variants in Angelman syndrome.

Human mutation - 1 Dec 2014

Sadikovic Bekim, Fernandes Priscilla, Zhang Victor Wei, Ward Patricia A, Miloslavskaya Irene, Rhead William, Rosenbaum Richard, Gin Robert, Roa Benjamin, Fang Ping

Abstract excerpt

Angelman syndrome is a neurodevelopmental disorder caused by a deficiency of the imprinted and maternally expressed UBE3A gene. Although de novo genetic and epigenetic imprinting defects of UBE3A genomic locus account for majority of Angelman diagnoses, approximately 10% of individuals affected with Angelman syndrome are a result of UBE3A loss-of-function mutations occurring on the expressed maternal chromosome....

Read the complete abstract on PubMed

Topics

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

Share to Angelman Syndrome
Share to Genetic Syndromes and Imprinting

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gestational Trophoblastic Disease Studies

Share to Mutation

Share to Pedigree

Share to Prenatal Screening and Diagnostics

Share to Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 25212744
DOI: 10.1002/humu.22687

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation Update for UBE3A variants in Angelman syndrome.PMID 25212744Read ↗

Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions.Semantic proximity Read ↗

Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey.Semantic proximity Read ↗

A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.Semantic proximity Read ↗

The spectrum of mutations in UBE3A causing Angelman syndrome.Semantic proximity Read ↗

A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome.Semantic proximity Read ↗

Molecular and Clinical Aspects of Angelman SyndromeSemantic proximity Read ↗

Mutation analysis of UBE3A in Angelman syndrome patients.Semantic proximity Read ↗

Germline mosaicism of a novel UBE3A mutation in Angelman syndromeSemantic proximity Read ↗

Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes.Semantic proximity Read ↗

Clinical and Genetic Characterization of Angelman Syndrome in a Chinese Cohort: UBE3A Variant Spectrum Expansion and Utility of Long-read SequencingSemantic proximity Read ↗

Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: UBE3A. Disease: Angelman Syndrome.Semantic proximity Read ↗

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