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41 results
  1. ... 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 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 can be caused by nerve diseases, autoimmune diseases, infections and more. Many movement disorders are inherited. ... Movement disorders are neurologic ...
  4. ... 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. ... ID Seizures ID in carrier females; may resemble Angelman ... 2. References included when there is no GeneReview Spastic Ataxias ...
  6. ... occur by chance. Other Names for This Condition Angelman-like syndrome, ... References Gilfillan GD, Selmer KK, Roxrud I, Smith R, ...
  7. ... 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 ...
  8. ... biological processes. Health Conditions Related to Genetic Changes Angelman syndrome The OCA2 gene is located in a region ... 15 that is often deleted in individuals with Angelman syndrome. A loss of this gene does not cause ...
  9. ... 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 ...
  10. ... w/↑ age) Overactivity, impulsivity, & challenging behavior more common Angelman syndrome Disruption of maternally imprinted UBE3A See footnote 4 ... The risk to sibs of a proband with Angelman syndrome depends on the genetic mechanism leading to the ...
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