 Angelman Syndrome
"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
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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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1999 | 1 | 0 | 1 | | 2008 | 0 | 1 | 1 | | 2009 | 0 | 1 | 1 | | 2022 | 1 | 0 | 1 | | 2023 | 2 | 0 | 2 |
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Below are the most recent publications written about "Angelman Syndrome" by people in Profiles.
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Crenshaw MM, Thompson T, Carson R, Simon SL, Patel S, Klap T, Duis J. A novel remote monitoring device recapitulates sleep patterns in angelman syndrome. Sleep Med. 2023 10; 110:120-122.
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Duis J, Skinner A, Carson R, Gouelle A, Annoussamy M, Silverman JL, Apkon S, Servais L, Carollo J. Quantitative measures of motor development in Angelman syndrome. Am J Med Genet A. 2023 07; 191(7):1711-1721.
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Turnwald A, Thompson T, Nori K, Duis J. Communication practices of parents and unaffected sibling needs in families impacted by a diagnosis of Angelman syndrome. Am J Med Genet A. 2022 07; 188(7):2110-2118.
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Petkova SP, Adhikari A, Berg EL, Fenton TA, Duis J, Silverman JL. Gait as a quantitative translational outcome measure in Angelman syndrome. Autism Res. 2022 05; 15(5):821-833.
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Duis J. The Road to Personalized Therapies: Lessons Learned From Angelman Syndrome. Am J Intellect Dev Disabil. 2022 03 01; 127(2):95-98.
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Duis J, Nespeca M, Summers J, Bird L, Bindels-de Heus KGCB, Valstar MJ, de Wit MY, Navis C, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Ernst S, Dendrinos M, Katz T, Diaz-Medina G, Katyayan A, Nangia S, Thibert R, Glaze D, Keary C, Pelc K, Simon N, Sadhwani A, Heussler H, Wheeler A, Woeber C, DeRamus M, Thomas A, Kertcher E, DeValk L, Kalemeris K, Arps K, Baym C, Harris N, Gorham JP, Bohnsack BL, Chambers RC, Harris S, Chambers HG, Okoniewski K, Jalazo ER, Berent A, Bacino CA, Williams C, Anderson A. A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome. Mol Genet Genomic Med. 2022 03; 10(3):e1843.
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Carson RP, Herber DL, Pan Z, Phibbs F, Key AP, Gouelle A, Ergish P, Armour EA, Patel S, Duis J. Nutritional Formulation for Patients with Angelman Syndrome: A Randomized, Double-Blind, Placebo-Controlled Study of Exogenous Ketones. J Nutr. 2021 12 03; 151(12):3628-3636.
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Markati T, Duis J, Servais L. Therapies in preclinical and clinical development for Angelman syndrome. Expert Opin Investig Drugs. 2021 Jul; 30(7):709-720.
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Hanzlik E, Klinger SA, Carson R, Duis J. Mirtazapine for sleep disturbances in Angelman syndrome: a retrospective chart review of 8 pediatric cases. J Clin Sleep Med. 2020 04 15; 16(4):591-595.
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Herber DL, Weeber EJ, D'Agostino DP, Duis J. Evaluation of the safety and tolerability of a nutritional Formulation in patients with ANgelman Syndrome (FANS): study protocol for a randomized controlled trial. Trials. 2020 Jan 09; 21(1):60.
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