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

Novel patterns of inheritance of genetic disease are illustrated by the Angelman syndrome.

The Medical journal of Australia - 21 Jun 1993

Deng Z M, Woodage T, Smart R, Smith A, Trent R J

Abstract excerpt

OBJECTIVE: To characterise the molecular abnormalities present in a cohort of patients with the Angelman syndrome. METHODS: DNA samples from 10 patients with the Angelman syndrome were investigated with molecular probes. Family studies were performed by means of DNA polymorphism analysis and densitometric estimation of allele copy number to determine the underlying mutation and its parental origin. RESULTS: Nine...

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
Share to Child

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

Share to Child, Preschool

Share to Chromosome Deletion

Share to Chromosome Mapping

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 8326891
DOI: 10.5694/j.1326-5377.1993.tb137668.x

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

Novel patterns of inheritance of genetic disease are illustrated by the Angelman syndrome.PMID 8326891Read ↗

Molecular mechanisms in Angelman syndrome: a survey of 93 patients.Semantic proximity Read ↗

Maternal origin of 15q11–13 deletions in Angelman syndrome suggests a role for genomic imprintingSemantic proximity Read ↗

Distinct phenotypes distinguish the molecular classes of Angelman syndrome.Semantic proximity Read ↗

Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome.Semantic proximity Read ↗

Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11-q13 imprinting region.Semantic proximity Read ↗

Atypical features in Angelman syndrome due to imprinting defect of uniparental disomy of chromosome 15.Semantic proximity Read ↗

Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature.Semantic proximity Read ↗

Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression.Semantic proximity Read ↗

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.Semantic proximity Read ↗

Angelman syndrome in an inbred family.Semantic proximity Read ↗

Maternal origin of deletion 15q11-13 in 25/25 cases of Angelman syndrome.Semantic proximity Read ↗

A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype.Semantic proximity Read ↗

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