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Article

Angelman syndrome in an inbred family.

Human genetics - 1 Mar 1996

Beuten J, Hennekam R C, Van Roy B, Mangelschots K, Sutcliffe J S, Halley D J, Hennekam F A, Beaudet A L, Willems P J

Abstract excerpt

Angelman syndrome (AS) is characterized by severe mental retardation, absent speech, puppet-like movements, inappropriate laughter, epilepsy, and abnormal electroencephalogram. The majority of AS patients (approximately 65%) have a maternal deficiency within chromosomal region 15q11-q13, caused by maternal deletion or paternal uniparental disomy (UPD). Approximately 35% of AS patients exhibit neither detectable...

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Identifiers

PMID: 8786067
DOI: 10.1007/BF02185757

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SNRPN

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

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Related research

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Angelman syndrome in an inbred family.PMID 8786067Read ↗

Novel patterns of inheritance of genetic disease are illustrated by the Angelman syndrome.Semantic proximity Read ↗

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

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

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

Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.Semantic proximity Read ↗

Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients.Semantic proximity Read ↗

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

Atypical cases of Angelman syndrome.Semantic proximity Read ↗

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

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

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

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

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