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79 results
  1. Angelman syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/angelman-syndrome
    ... gov Catalog of Genes and Diseases from OMIM ANGELMAN SYNDROME; AS Scientific Articles on PubMed PubMed References Buiting K. Prader-Willi syndrome and Angelman syndrome. ...
  2. UBE3A gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/ube3a
    ... UBE3A Gene and Variant Databases NCBI Gene ClinVar References Bittel DC, Kibiryeva N, Talebizadeh Z, Driscoll DJ, Butler MG. Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD. Genomics. 2005 Jan;85(1): ...
  3. Movement Disorders 
    https://medlineplus.gov/movementdisorders.html
    Movement disorders can be caused by nerve diseases, autoimmune diseases, infections and more. Many movement disorders are inherited. ... Movement disorders are neurologic ...
  4. MECP2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/mecp2
    ... PubMed Catalog of Genes and Diseases from OMIM ANGELMAN SYNDROME; AS AUTISM METHYL-CpG-BINDING PROTEIN 2; MECP2 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13; MRXS13 Gene and Variant Databases NCBI Gene ClinVar References Adkins NL, Georgel PT. MeCP2: structure and function. ...
  5. Angelman Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1144
    ... may contain more recent information. — ED. Table A. Angelman Syndrome: Genes and ... are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  6. Prader-Willi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1330
    ... Review posted live Spring 1997 (sc) Original submission ... analysis of Prader-Willi and Angelman syndromes. Eur J Hum Genet. 2019;27:1326-40. [ ...
  7. Christianson syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/christianson-syndrome
    ... occur by chance. Other Names for This Condition Angelman-like syndrome, ... References Gilfillan GD, Selmer KK, Roxrud I, Smith R, ...
  8. OCA2 gene 
    https://medlineplus.gov/genetics/gene/oca2
    ... 15 that is often deleted in individuals with Angelman syndrome. A loss of this gene does not cause the characteristic neurologic features of Angelman syndrome; however, people with this condition who are missing ...
  9. Chromosome 15: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/chromosome/15
    ... acute promyelocytic leukemia. More About This Health Condition Angelman syndrome Angelman syndrome is a condition that results from a loss ... a gene called UBE3A . The neurological features of Angelman syndrome are caused by genetic changes that affect this ...
  10. 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 ...
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