Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor β3-subunit gene
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference5 articles.
1. Angelman syndrome and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion;Knoll;Am J Med Genet,1989
2. Uniparental disomy in Angelman's syndrome;Malcolm;Lancet,1991
3. Genomic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome;Nicholls;Nature,1989
4. Localization of the gene encoding the GABAAreceptorβ3 subunit to the Angelman/Prader-Willi region of human chromosome 15;Wagstaff;Am J Hum Genet,1991
5. DNA deletion and its parental origin in Angelman syndrome patients;Hamabe;Am J Med Genet,1991
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1. Leitlinien für die molekulare und zytogenetische Diagnostik bei Prader-Willi-Syndrom und Angelman-Syndrom;Medizinische Genetik;2020-08-01
2. Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice;Journal of Clinical Investigation;2018-11-19
3. Leitlinien für die molekulare und zytogenetische Diagnostik bei Prader-Willi-Syndrom und Angelman-Syndrom;Medizinische Genetik;2016-11-18
4. Deletion ofUBE3Ain brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2;American Journal of Medical Genetics Part A;2014-08-06
5. Sister chromatid exchange in families with Angelman or Prader-Willi syndrome;Clinical Genetics;2008-06-28
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