"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
|
| MeSH Number(s) |
C10.228.662.075 C16.131.077.095 C16.131.260.040 C16.320.180.040
|
| 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.
View timeline visualization
| Year | Major Topic | Minor Topic | Total |
|---|
| 1996 | 1 | 0 | 1 |
| 1997 | 2 | 0 | 2 |
| 1998 | 2 | 1 | 3 |
| 2000 | 0 | 2 | 2 |
| 2002 | 0 | 2 | 2 |
| 2004 | 2 | 1 | 3 |
| 2005 | 1 | 1 | 2 |
| 2006 | 2 | 1 | 3 |
| 2007 | 1 | 0 | 1 |
| 2008 | 1 | 2 | 3 |
| 2009 | 3 | 0 | 3 |
| 2010 | 6 | 2 | 8 |
| 2011 | 3 | 0 | 3 |
| 2012 | 2 | 0 | 2 |
| 2013 | 1 | 1 | 2 |
| 2014 | 3 | 0 | 3 |
| 2015 | 3 | 0 | 3 |
| 2016 | 6 | 1 | 7 |
| 2017 | 1 | 0 | 1 |
| 2018 | 2 | 1 | 3 |
| 2019 | 8 | 2 | 10 |
| 2020 | 7 | 0 | 7 |
| 2021 | 13 | 0 | 13 |
| 2022 | 5 | 0 | 5 |
| 2023 | 8 | 0 | 8 |
| 2024 | 2 | 1 | 3 |
Below are the most recent publications written about "Angelman Syndrome" by people in Profiles.
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Integration of CTCF loops, methylome, and transcriptome in differentiating LUHMES as a model for imprinting dynamics of the 15q11-q13 locus in human neurons. Hum Mol Genet. 2024 09 19; 33(19):1711-1725.
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Developmental milestones and daily living skills in individuals with Angelman syndrome. J Neurodev Disord. 2024 Jun 15; 16(1):32.
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Prenatal delivery of a therapeutic antisense oligonucleotide achieves broad biodistribution in the brain and ameliorates Angelman syndrome phenotype in mice. Mol Ther. 2024 Apr 03; 32(4):935-951.
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Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition. J Autism Dev Disord. 2024 Oct; 54(10):3863-3887.
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Gaboxadol in angelman syndrome: A double-blind, parallel-group, randomized placebo-controlled phase 3 study. Eur J Paediatr Neurol. 2023 Nov; 47:6-12.
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Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS). J Neurodev Disord. 2023 07 26; 15(1):22.
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Health-related quality of life and medication use among individuals with Angelman syndrome. Qual Life Res. 2023 Jul; 32(7):2059-2067.
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Quantitative measures of motor development in Angelman syndrome. Am J Med Genet A. 2023 07; 191(7):1711-1721.
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An ASO therapy for Angelman syndrome that targets an evolutionarily conserved region at the start of the UBE3A-AS transcript. Sci Transl Med. 2023 03 22; 15(688):eabf4077.
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Transcriptional reprogramming restores UBE3A brain-wide and rescues behavioral phenotypes in an Angelman syndrome mouse model. Mol Ther. 2023 04 05; 31(4):1088-1105.