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79 results
  1. ... Search term GeneReviews Advanced Search Help < Prev Next > Angelman Syndrome Aditi I Dagli , MD, Jennifer Mathews , MS, CGC, ... organizations. For information on selection criteria, click here . Angelman Syndrome Foundation, Inc. (ASF) 4255 Westbrook Drive Suite 219 ...
  2. Angelman syndrome (AS) is a genetic condition that causes problems with the way a child's body and brain ... gene passed on from the mother is active. Angelman syndrome most often occurs because the UBE3A gene passed ...
  3. ... published></health-condition-summary><health-condition-summary ><name >Angelman syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  4. ... 290 [ Godler et al 2022 ]. Genetically Related Disorders Angelman syndrome (AS) is caused by loss of the maternally ... window Disorder Gene(s) MOI Clinical Features / Comment Angelman syndrome (AS) UBE3A 1 Recurrence risk is mechanism dependent. ...
  5. ... common, and may resemble the behaviors observed in Angelman syndrome. Hypotonia and oropharyngeal dysphagia in infancy may result ... spectrum disorder (ASD) and behaviors typically associated with Angelman syndrome . Of note, approximately one third of those with ...
  6. ... delay*).ti,ab. *down syndrome/ 13 use emez angelman syndrome/ or down syndrome/ or fragile x syndrome/ 15 ... 23 down syndrome/ 24 23 use emez 25 angelman syndrome/ or down syndrome/ or fragile x syndrome/ 26 ...
  7. ... of function of the maternally contributed UBE3A allele Angelman syndrome : distinctive facial features, severe ID, profound expressive language ... in this region UBE3A , the gene implicated in Angelman syndrome, is also thought to be the primary gene ...
  8. ... 13 *down syndrome/ 14 13 use emez 15 angelman syndrome/or down syndrome/or fragile x syndrome/ 16 ... 20 *down syndrome/ 21 20 use emez 22 angelman syndrome/or down syndrome/or fragile x syndrome/ 23 ...
  9. ... Margolis SS, Sell GL, Zbinden MA, et al. Angelman Syndrome. Neurotherapeutics. 2015 Jul;12(3):641–50. doi: ... et al. The neurobehavioral and molecular phenotype of Angelman Syndrome. Am J Med Genet A. 2015 Nov;167( ...
  10. ... Margolis SS, Sell GL, Zbinden MA, et al. Angelman Syndrome. Neurotherapeutics. 2015 Jul;12(3):641–50. doi: ... et al. The neurobehavioral and molecular phenotype of Angelman Syndrome. Am J Med Genet A. 2015 Nov;167( ...
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