Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect-Reference-Cited by-同舟云学术

Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect

Published:2015-04-21 Issue:7 Volume:167 Page:1565-1569
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Fairbrother Laura C.¹,Cytrynbaum Cheryl²³,Boutis Paula⁴,Buiting Karin⁵,Weksberg Rosanna²³,Williams Charles¹

Affiliation:

1. Division of Genetics and Metabolism; Department of Pediatrics; University of Florida; Raymond C. Philips Unit; Gainesville Florida

2. Division of Clinical and Metabolic Genetics; Department of Pediatrics and Genetics and Genome Biology; Research Institute, Hospital for Sick Children; Ontario Canada

3. Department of Molecular Genetics; University of Toronto; Ontario Canada

4. Parent; Toronta Canada

5. Institut f; ü; r Humangenetik; Universit; ä; tsklinikum Essen; Essen Germany

Funder

Raymond C. Philips Unit, State of Florida

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37058/fullpdf

Reference19 articles.

1. The EEG in early diagnosis of the Angelman (happy puppet) syndrome;Boyd;Eur J Pediatr,1988

2. Exceptionally mild Angelman syndrome phenotype associated with an incomplete imprinting defect;Brockmann;J Med Genet,2002

3. Prader-Willi syndrome and Angelman syndrome;Buiting;Am J Med Genet C Semin Med Genet,2010

4. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15;Buiting;Nat Genet,1995

5. Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes;Camprubi;Eur J Med Genet,2007

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