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109 results

  1. Angelman Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1144
    ... 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 
    https://medlineplus.gov/ency/article/007616.htm
    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. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Angelman syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  4. Prader-Willi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1330
    ... 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. Christianson Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK475801
    ... 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. Search strategies for the identification of clinical studies - Mental health of adults in contact with the criminal ... 
    https://www.ncbi.nlm.nih.gov/books/NBK533131
    ... 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. Maternal 15q Duplication Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK367946
    ... 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. Search strategies for the identification of clinical studies - Mental Health Problems in People with Learning ... 
    https://www.ncbi.nlm.nih.gov/books/NBK401806
    ... 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. MEF2C-Related Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK610216
    ... linked intellectual developmental disorders Classic Rett syndrome and Angelman syndrome can be considered in individuals presenting with stereotypic ... expression or function of maternally inherited UBE3A allele Angelman syndrome See footnote 1. ID, DD, severe speech impairment, ...
  10. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... 037 Akathisia, Drug-Induced C10.228.662.075 Angelman Syndrome C10.228.662.262 Dyskinesias C10.228.662. ... 077.065 Alagille Syndrome C16.131.077.095 Angelman Syndrome C16.131.077.121 Barth Syndrome C16.131. ...
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