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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

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Related topics

25 relations
BrachycephalyConstipationDevelopmental delay (disorder)In Blood

Broader (4)

Hereditary DiseasesMental RetardationMovement DisordersSyndrome

Papers overview

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2013
2013
A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment
BackgroundThe proximal chromosome 15q is prone to unequal crossover, leading to rearrangements. Although 15q11q13 duplications… 
2010
2010
Facts About Angelman Syndrome 7
Facts about AS was initially a small booklet developed in 1987 to help launch the Angelman Syndrome Foundation organization and… 
2006
2006
Del diagnóstico clínico al diagnóstico genético de los síndromes de Prader-Willi y Angelman
Introduccion y desarrollo. El sindrome de Angelman (SA) se caracteriza por retraso mental (RM) grave, ausencia del lenguaje… 
Review
2000
Review
2000
A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction
To the Editor : Uniparental disomy (UPD) is a rare genetic mechanism found in about 1–5% of Angelman syndrome (AS) cases (1–4… 
1999
1999
Clinical characteristics of Angelman syndrome patients with a non‐IC‐deleted imprinting mutation
To the Editor: Angelman syndrome (AS: MIM 105830) is a neurobehavioral disorder and is one of the major genetic causes of severe… 
1997
1997
Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.
Angelman syndrome (AS) most frequently results from large (> or = 5 Mb) de novo deletions of chromosome 15q11-q13. The deletions… 
1996
1996
The Diversity Factor: Capturing the Competitive Advantage of a Changing Workforce
The face of America is changing. The workforce of the 21st century will include growing numbers of women and people of color… 
1996
1996
Detection of imprinting mutations in Angelman syndrome using a probe for exon alpha of SNRPN.
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct clinical disorders resulting from deficiency of paternal (PWS… 
1991
1991
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.
Review
1987
Review
1987
Angelman (happy puppet) syndrome in a girl and her brother.
We report a girl aged 11 and her brother aged five, both with the typical features of Angelman syndrome, and three isolated cases…