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… (More)
National Institutes of Health

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Highly Cited
2010
Highly Cited
2010
Angelman Syndrome is a debilitating neurological disorder caused by mutation of the E3 ubiquitin ligase Ube3A, a gene whose… (More)
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Review
2010
Review
2010
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurogenetic disorders in which imprinted genes on the… (More)
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Highly Cited
2003
Highly Cited
2003
Beckwith-Wiedemann syndrome (BWS) is a model imprinting disorder resulting from mutations or epimutations affecting imprinted… (More)
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Highly Cited
2003
Highly Cited
2003
Angelman syndrome (AS) is a disorder of human cognition characterized by severe mental retardation and epilepsy. Recently, a… (More)
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Highly Cited
2001
Highly Cited
2001
BACKGROUND Angelman syndrome (AS) is a severe neurobehavioural disorder caused by defects in the maternally derived imprinted… (More)
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Review
2000
Review
2000
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct complex disorders mapped to chromosome 15q11-q13… (More)
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Highly Cited
1997
Highly Cited
1997
Angelman syndrome (AS), characterized by mental retardation, seizures, frequent smiling and laughter, and abnormal gait, is one… (More)
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Highly Cited
1997
Highly Cited
1997
Angelman syndrome (AS) is associated with maternal deletions of human chromosome 15q11–q13 and with paternal uniparental disomy… (More)
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Highly Cited
1997
Highly Cited
1997
Angelman syndrome (AS) is a human genetic disorder characterized by mental retardation, seizures, inappropriate laughter… (More)
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Highly Cited
1996
Highly Cited
1996
The aim of this study was to examine the prevalence of angelman syndrome in prepubertal school-aged children and analyze its… (More)
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