Identification of Copy Number Variants on Human Chromosome 22 in Patients with a Variety of Clinical Findings
Author:
Publisher
S. Karger AG
Subject
Genetics (clinical),Genetics,Molecular Biology
Reference53 articles.
1. Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions
2. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2
3. Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome
4. 22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome
Cited by 12 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. Homozygous 22q11.2 distal type II microdeletion is associated with syndromic neurodevelopmental delay;American Journal of Medical Genetics Part A;2023-06-27
2. A Pilot Study about Clinical Features of Aberrations Chromosome 22q;Global Medical Genetics;2021-11-09
3. Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome;Human Molecular Genetics;2018-03-02
4. The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology;BioMed Research International;2016
5. Cleft palate in a patient with the nested 22q11.2 LCR C to D deletion;American Journal of Medical Genetics Part A;2015-09-30
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