A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: Clinical and molecular analysis
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Reference28 articles.
1. Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH;Tyson;Am J Med Genet A,2005
2. Diagnostic genome profiling in mental retardation;De Vries;Am J Hum Genet,2005
3. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports;Menten;J Med Genet,2006
4. BAC array CGH reveals genomic aberrations in idiopathic mental retardation;Miyake;Am J Med Genet A,2006
5. Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features;Aradhya;Am J Med Genet A,2007
Cited by 16 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. Transcriptional Repressor BCL11A in Erythroid Cells;Advances in Experimental Medicine and Biology;2024
2. Case Report: Identification of microduplication in the chromosomal 2p16.1p15 region in an infant suffering from pulmonary arterial hypertension;Frontiers in Cardiovascular Medicine;2023-10-23
3. Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting;Genes;2023-02-15
4. The first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, developmental delay, and congenital hypothyroidism;Journal of Genetic Medicine;2022-12-31
5. NeuroSCORE is a genome-wide omics-based model that identifies candidate disease genes of the central nervous system;Scientific Reports;2022-03-31
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