Potential pitfall in Prader-Willi syndrome and Angelman syndrome molecular diagnosis
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference14 articles.
1. Characterization of a methylation imprint in the Prader — Willi syndrome chromosome region
2. A DNA methylation imprint, determined by the sex of the parent, distinguishes the angelman and Prader-Willi syndromes
3. DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome.
Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Congenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD;American Journal of Medical Genetics Part A;2020-08-20
2. Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes;BMC Medical Genetics;2010-05-11
3. A new case of mosaicism for invdup(15) duplicated for Prader–Willi/Angelman syndrome critical region (PWACR) in an adult healthy man;European Journal of Medical Genetics;2008-05
4. Healthy 12-year-old boy with mosaic inv dup(15)(q13);American Journal of Medical Genetics Part A;2006
5. Laboratory Testing for Prader-Willi Syndrome;Management of Prader-Willi Syndrome;2006
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