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Angelman Syndrome

Known as: puppetlike syndrome, angelman's syndromes, Children, Puppet 
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities… 
National Institutes of Health

Related topics

Related topics

25 relations
BrachycephalyConstipationDevelopmental delay (disorder)In Blood

Broader (4)

Hereditary DiseasesMental RetardationMovement DisordersSyndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2007
Highly Cited
2007
Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA.
Highly Cited
1999
Highly Cited
1999
The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC…
Imprinting of the Prader-Willi/Angelman syndrome region on human chromosome 15 is regulated by an imprinting centre (IC), which… 
Review
1997
Review
1997
Manifestations in institutionalised adults with Angelman syndrome due to deletion.
Undiagnosed institutionalised patients were reviewed in an attempt to identify those with Angelman syndrome (AS). The aim was to… 
Highly Cited
1993
Highly Cited
1993
Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome.
Chromosome 15 (15q11-q13) abnormalities cause two distinct conditions, Angelman syndrome (AS) and Prader-Willi syndrome (PWS). We… 
Review
1993
Review
1993
Molecular mechanisms in Angelman syndrome: a survey of 93 patients.
Angelman syndrome (AS) results from a lack of maternal contribution from chromosome 15q11-13, arising from de novo deletion in… 
1993
1993
Hypopigmentation in Angelman syndrome.
Chromosome region 15q is thought to contain one or more genes that are important for melanin pigment synthesis in the hair, skin… 
1993
1993
Linkage analysis in familial Angelman syndrome.
Familial Angelman syndrome (AS) can result from mutations in chromosome 15q11q13 that, when transmitted from father to child… 
Highly Cited
1992
Highly Cited
1992
Maternal but not paternal transmission of 15q11–13–linked nondeletion Angelman syndrome leads to phenotypic expression
Angelman syndrome (AS) may result from either maternally inherited deletions of chromosome 15q11–13 or from paternal uniparental… 
1991
1991
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.
Genetic imprinting has been implicated in the etiology of two clinically distinct but cytogenetically indistinguishable disorders… 
1990
1990
Angelman's Syndrome in Infancy
The authors report an 11‐month‐old patient with the clinical features of Angelman Syndrome and a 15q11‐2–12 chromosomal deletion… 
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