Clinical experience with a single-nucleotide polymorphism-based non-invasive prenatal test for five clinically significant microdeletions
Author:
Affiliation:
1. Natera, Inc.; San Carlos California
2. Department of Genetics and Genome Sciences; University of Connecticut Health Center; Farmington Connecticut
Funder
Natera, Inc
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13098/fullpdf
Reference40 articles.
1. Common genetic and epigenetic syndromes;Adams;Pediatr Clin North Am,2015
2. The genetics of microdeletion and microduplication syndromes: an update;Watson;Annu Rev Genomics Hum Genet,2014
3. Chromosomal microarray analysis and prenatal diagnosis;Lo;Obstet Gynecol Surv,2014
4. Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes;Wapner;Am J Obstet Gynecol,2015
5. Prevalence of 22q11 microdeletion;Tezenas Du Montcel;J Med Genet,1996
Cited by 89 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. The performance evaluation of NIPT for fetal chromosome microdeletion/microduplication detection: a retrospective analysis of 68,588 Chinese cases;Frontiers in Genetics;2024-06-07
2. High positive predictive value 22q11.2 microdeletion screening by prenatal cell‐free DNA testing that incorporates fetal fraction amplification;Prenatal Diagnosis;2024-04-15
3. Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review;BMC Medical Genomics;2024-02-21
4. Noninvasive prenatal screening for fetal aneuploidies;Diagnostic Molecular Pathology;2024
5. Chromosome Disorders;Avery's Diseases of the Newborn;2024
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