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Article

Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations.

Journal of medical genetics - 1 Jun 2006

Sahoo T, Peters S U, Madduri N S, Glaze D G, German J R, Bird L M, Barbieri-Welge R, Bichell T J, Beaudet A L, Bacino C A

Abstract excerpt

BACKGROUND: Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, dysmorphic features, ataxia, seizures, and typical behavioural characteristics, including a happy sociable disposition. AS is caused by maternal deficiency of UBE3A (E6 associated protein ubiquitin protein ligase 3A gene), located in an imprinted region on chromosome 15q11-q13. Although there are four...

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Source

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Identifiers

PMID: 16183798
DOI: 10.1136/jmg.2005.036913
PMCID: PMC2564536

Genes

CYFIP1
NIPA1
NIPA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations.PMID 16183798Read ↗

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

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

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

Atypical cases of Angelman syndrome.Semantic proximity Read ↗

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

Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD.Semantic proximity Read ↗

A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.Semantic proximity Read ↗

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

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