Uniparental Disomy
Author:
Publisher
Wiley
Subject
Dermatology,Pediatrics, Perinatology and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1525-1470.2005.00122.x/fullpdf
Reference29 articles.
1. A new genetic concept: Uniparental disomy and its potential effect, isodisomy
2. Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements
3. Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15
4. The Changing Purpose of Prader-Willi Syndrome Clinical Diagnostic Criteria and Proposed Revised Criteria
Cited by 14 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. A rare case of uniparental isodisomy of chromosome 19 with no phenotypic abnormalities;Taiwanese Journal of Obstetrics and Gynecology;2021-03
2. A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings;Genes;2020-07-19
3. First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant;Molecular Genetics & Genomic Medicine;2020-01-27
4. Whole exome sequencing and methylation‑specific multiplex ligation‑dependent probe amplification applied to identify Angelman syndrome due to paternal uniparental disomy in two unrelated patients;Molecular Medicine Reports;2019-06-05
5. Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report;Molecular Cytogenetics;2018-12
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