By Robert H. March
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Db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=7625442&query_hl=12&itool=pubmed_docsum • Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. Author(s): Clayton-Smith J. Source: American Journal of Medical Genetics. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=7684188&query_hl=12&itool=pubmed_docsum • Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county. Author(s): Petersen MB, Brondum-Nielsen K, Hansen LK, Wulff K.
Db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=11283796&query_hl=12&itool=pubmed_docsum • Distinct multi-joint control strategies in spastic diplegia associated with prematurity or Angelman syndrome. Author(s): Dan B, Bouillot E, Bengoetxea A, Boyd SG, Cheron G. Source: Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=11514244&query_hl=12&itool=pubmed_docsum • Distinct phenotypes distinguish the molecular classes of Angelman syndrome.
The imprinting of H19 and the linked and oppositely imprinted Igf2 gene, is mediated, at least in part, through the 2 kb differentially methylated domain (DMD) that is located 2 kb upstream 26 Angelman Syndrome from the start of H19 transcription. The DMD is hypermethylated on the repressed paternal allele, hypersensitive to nucleases on the expressed maternal allele and is hypothesized to act as a methylation-sensitive insulator. The insulator function is suggested to act through a set of 4 short repetitive elements that bind the transcriptional regulatory protein CTCF in vitro.