Identification of paternal germline mosaicism by MicroSeq and targeted next‐generation sequencing-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Identification of paternal germline mosaicism by MicroSeq and targeted next‐generation sequencing

Published:2020-07-09 Issue:9 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Dai Congling¹,Cheng Dehua¹²,Li Weina²,Zeng Sicong²³^ORCID,Lu Guangxiu¹²³⁴,Zhang Qianjun¹²⁴^ORCID

Affiliation:

1. Institute of Reproductive and Stem Cell Engineering School of Basic Medical Science Central South University Hunan China

2. Reproductive and Genetic Hospital ofCITIC‐Xiangya Hunan China

3. School of medicine Hunan Normal University Hunan China

4. Hunan Guangxiu Hospital Hunan China

Funder

Grant of The Reproductive and Genetic Hospital of CITIC-Xiangya

Science and Technology Major Project of the Ministry of Science and Technology of Hunan Province, China

Natural Science Foundation of Hunan Province

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1394

Reference23 articles.

1. Gonadal mosaicism as a rare cause of autosomal recessive inheritance

2. Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1-5q31.3 in ten unbalanced carriers

3. Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.

4. Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome

5. Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics

Cited by 6 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. Prenatal diagnosis of Sex determining region Y -box transcription factor 2 anophthalmia syndrome caused by germline mosaicism using next-generation sequencing: A case report;International Journal of Reproductive BioMedicine (IJRM);2023-09-14

2. Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2;Frontiers in Endocrinology;2023-01-04

3. Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye;European Journal of Human Genetics;2022-11-21

4. Mosaicism detection and impact in eye development anomalies;2022-09-13

5. Novel RB1 germline mutation in a healthy man;Ophthalmic Genetics;2022-04-11

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3