"Angelman Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)
Descriptor ID |
D017204
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MeSH Number(s) |
C10.228.662.075 C16.131.077.095 C16.131.260.040 C16.320.180.040
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Concept/Terms |
Angelman Syndrome- Angelman Syndrome
- Syndrome, Angelman
- Puppet Children
- Children, Puppet
- Happy Puppet Syndrome
- Syndrome, Happy Puppet
|
Below are MeSH descriptors whose meaning is more general than "Angelman Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Angelman Syndrome".
This graph shows the total number of publications written about "Angelman Syndrome" by people in this website by year, and whether "Angelman Syndrome" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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1996 | 1 | 0 | 1 |
1998 | 0 | 1 | 1 |
2004 | 1 | 0 | 1 |
2005 | 1 | 0 | 1 |
2016 | 1 | 0 | 1 |
2018 | 0 | 1 | 1 |
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Below are the most recent publications written about "Angelman Syndrome" by people in Profiles.
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Insights into imprinting from parent-of-origin phased methylomes and transcriptomes. Nat Genet. 2018 11; 50(11):1542-1552.
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Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders. PLoS Genet. 2016 05; 12(5):e1005993.
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Notched delta, phenotype, and Angelman syndrome. J Clin Neurophysiol. 2005 Aug; 22(4):238-43.
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Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR. Genet Test. 2004; 8(4):387-94.
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Molecular screening for proximal 15q abnormalities in a mentally retarded population. J Med Genet. 1998 Jul; 35(7):534-8.
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Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb. Genome Res. 1998 Feb; 8(2):146-57.
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Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis. J Med Genet. 1996 Dec; 33(12):1011-4.