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Angelman syndrome: consensus for diagnostic criteria.Angelman Syndrome Foundation.
Williams CA,
Angelman H,
Clayton-Smith J,
Driscoll DJ,
Hendrickson JE,
Knoll JH,
Magenis RE,
Schinzel A,
Wagstaff J,
Whidden EM, et al.
Department of Pediatrics, University of Florida College of Medicine, Gainesville, USA.
PMID: 7625452 [PubMed - indexed for MEDLINE]
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Cited by 24 PubMed Central articles
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SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, et al.
Am J Hum Genet. 2008 Apr; 82(4):1003-10. Epub 2008 Mar 13.
[Am J Hum Genet. 2008]
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Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice.
Lawson-Yuen A, Liu D, Han L, Jiang ZI, Tsai GE, Basu AC, Picker J, Feng J, Coyle JT.
Brain Res. 2007 Nov 14; 1180:1-6. Epub 2007 Aug 24.
[Brain Res. 2007]
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Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations.
Sahoo T, Peters SU, Madduri NS, Glaze DG, German JR, Bird LM, Barbieri-Welge R, Bichell TJ, Beaudet AL, Bacino CA.
J Med Genet. 2006 Jun; 43(6):512-6. Epub 2005 Sep 23.
[J Med Genet. 2006]
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