Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome
Author:
Publisher
BMJ
Subject
Genetics (clinical),Genetics
Reference46 articles.
1. Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH);Maas;J Med Genet,2008
2. Wolf-Hirschhorn syndrome;Battaglia,1993
3. A short history of the initial discovery of the Wolf-Hirschhorn syndrome;Hirschhorn;Am J Med Genet C Semin Med Genet,2008
4. Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations;South;Eur J Hum Genet,2008
5. Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements;Luo;Hum Mol Genet,2011
Cited by 40 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 Unique Derivative Chromosome 4 with a Predominant 4p16.3 Microduplication Phenotype and a Literature Review;Molecular Syndromology;2024-08-28
2. Síndrome de Wolf-Hirschhorn y facomatosis pigmento vascular: ¿coincidencia o asociación? Reporte de caso;Acta Pediátrica de México;2024-07-16
3. Epilepsy and congenital cerebral palsy: Parallels between the location of genome anomalies and clinical manifestations;Russian Journal of Child Neurology;2024-04-07
4. Wolf-hirschhorn Syndrome in Malaysia;Malaysian Journal of Medicine and Health Sciences;2023-12-16
5. Efficacy of Antiseizure Medications in Wolf–Hirschhorn Syndrome;Neuropediatrics;2023-04-19
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