Chromosomal Structural Rearrangements: Detection and Elucidation of Mechanisms Using Cytogenomic Technologies
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry
Reference24 articles.
1. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints;Warburton;Am J Hum Genet,1991
2. Mendelian cytogenetics;Tommerup;J Med Genet,1993
3. Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity;Patsalis;Eur J Hum Genet,2004
4. The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes;Gribble;J Med Genet,2005
5. Detection of deletions in de novo “balanced” chromosome rearrangements: further evidence for their role in phenotypic abnormalities;Astbury;Genet Med,2004
Cited by 6 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. SVAtools for junction detection of genome-wide chromosomal rearrangements by mate-pair sequencing (MPseq);Cancer Genetics;2018-02
2. Duplicación 5q34q35.3 que involucra el gen NSD1: región delimitada por microarreglos de hibridación genómica comparativa. A propósito de un caso;Acta Pediátrica de México;2016-09-01
3. Intellectual Disability and Developmental Delay: Cytogenetic Testing;Molecular Pathology in Clinical Practice;2016
4. Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations;Journal of Applied Genetics;2015-06-12
5. SNX8: A candidate gene for 7p22 cardiac malformations including tetralogy of fallot;American Journal of Medical Genetics Part A;2013-12-05
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