Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34180/fullpdf
Reference10 articles.
1. Duplication of 7p21.2 → pter due to maternal 7p;21q translocation: Implications for critical segment assignment in the 7p duplication syndrome;Cai;Am J Med Genet,1999
2. De novo direct tandem duplication of a small segment of the short arm of chromosome 7 (p21.22 → 22);Franz;Clin Genet,1996
3. Detection of large-scale variation in the human genome;Iafrate;Nat Genet,2004
4. Trisomy 7p resulting from 7p15;9p24 translocation: Report of a new case and review of associated medical complications;Kozma;Am J Med Genet,2000
5. Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes;Mégarbané;J Med Genet,2001
Cited by 20 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. Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/ıntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings;Molecular Biology Reports;2024-04-25
2. Genetic outcomes in children with developmental language disorder: a systematic review;Frontiers in Pediatrics;2024-01-17
3. Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature;Journal of Autism and Developmental Disorders;2022-12-11
4. Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes;Genes;2022-12-04
5. Molecular Mechanisms of Syndromic Cryptorchidism: Data Synthesis of 50 Studies and Visualization of Gene-Disease Network;Frontiers in Endocrinology;2018-07-26
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