Deletion involving D15S113 in a mother and son without Angelman syndrome: Refinement of the Angelman syndrome critical deletion region
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference28 articles.
1. A linkage map of human chromosome 15 with an average resolution of 2 cM and containing 55 polymorphic microsatellites
2. Molecular definition of the Prader — Willi syndrome chromosome region and orientation of the SNRPN gene
3. Detection of aberrant DNA methylation in unique Prader — Willi syndrome patients and its diagnostic implications
4. Angelman syndrome associated with a maternal 15q11–13 deletion of less than 200 kb
5. Characterization of a methylation imprint in the Prader — Willi syndrome chromosome region
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1. Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome;PLOS ONE;2016-02-03
2. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants;Journal of Medical Genetics;2005-08-01
3. GABAA receptor β3 subunit gene-deficient heterozygous mice show parent-of-origin and gender-related differences in β3 subunit levels, EEG, and behavior;Developmental Brain Research;2005-06
4. GABRB3 Gene Deficient Mice: A Potential Model of Autism Spectrum Disorder;International Review of Neurobiology;2005
5. Mosaicism in Prader-Willi syndrome;American Journal of Medical Genetics;2000-01-17
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