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-Reference-Cited by-同舟云学术

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

Published:2019-06-05 Issue: Volume: Page:
ISSN:1791-2997
Container-title:Molecular Medicine Reports
language:
Short-container-title:Mol Med Report

Author:

Li Haibei¹,Yang Haiqi²,Lv Nan¹,Ma Caiyun¹,Li Jingjie¹,Shang Qing¹

Affiliation:

1. Department of Pediatrics, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, Henan 450053, P.R. China

2. Aegicare (Shenzhen) Technology Co., Ltd., Shenzhen, Guangdong 518060, P.R. China

Publisher

Spandidos Publications

Subject

Cancer Research,Oncology,Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Cited by 7 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 Case with Angelman Syndrome Carried de novo der(15q;15q) By de novo Paternal Uniparental Disomy;Muğla Sıtkı Koçman Üniversitesi Tıp Dergisi;2024-04-30

2. Identification of the genetic basis of pediatric neurogenetic disorders at a tertiary referral hospital in Indonesia: Contribution of whole exome sequencing;PLOS ONE;2023-10-25

3. Identification of a Splicing Variant c.3813-3A>G in NPHP3 by Reanalysis of Whole Exome Sequencing in a Chinese Boy with Nephronophthisis;Nephron;2023

4. Identification of SSTR5 Gene Polymorphisms and Their Association With Growth Traits in Hulun Buir Sheep;Frontiers in Genetics;2022-04-26

5. The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report;Annals of Medicine and Surgery;2022-01