Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole‐exome sequencing: A retrospective cohort study
Author:
Affiliation:
1. Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics School of life sciences, Central South University Changsha Hunan China
2. Hunan Jiahui Genetics Hospital Changsha Hunan China
Funder
National Basic Research Program of China
National Natural Science Foundation of China
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13976
Reference15 articles.
1. Advances in evaluating the fetal skeleton;Noel AE;Int J Womens Health,2014
2. Nosology and classification of genetic skeletal disorders: 2019 revision
3. Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality
4. Approach to the diagnosis of skeletal dysplasias: Experience at a center with limited resources
5. Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel
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 De novo Mutation in the COL1A1 Gene Leading to Severe Osteogenesis Imperfecta: Case Report and Review of the Literature;American Journal of Perinatology Reports;2024-07
2. Prenatal diagnosis of fetuses with ultrasound anomalies by whole-exome sequencing in Luoyang city, China;Frontiers in Genetics;2024-01-22
3. Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta;Fetal Diagnosis and Therapy;2024
4. Diagnostic yield of exome sequencing in fetuses with skeletal dysplasia: systematic review and meta-analysis;2023-06-22
5. Diagnostic Yield of Exome Sequencing in Fetuses with Sonographic Features of Skeletal Dysplasias but Normal Karyotype or Chromosomal Microarray Analysis: A Systematic Review;Genes;2023-05-30
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