Detection of mosaicRB1mutations in families with retinoblastoma
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference40 articles.
1. Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression;Albrecht;Hum Mutat,2005
2. Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease;Beck;Hum Mol Genet,2004
3. Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency;Betsalel;Neurogenetics,2008
4. Frequency of 13q abnormalities among 203 patients with retinoblastoma;Bunin;J Natl Cancer Inst,1989
5. Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen;Byers;Am J Hum Genet,1988
Cited by 121 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. Genetics in ophthalmology: molecular blueprints of retinoblastoma;Human Genomics;2023-09-01
2. Genetics versus enviromental factors in pathogenesis of retinoblastoma;International Journal of Hygiene and Environmental Health;2023-08
3. Clinical analysis of 2790 children with retinoblastoma: a single-center experience in China;World Journal of Pediatrics;2023-06-03
4. Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk;Annual Review of Genomics and Human Genetics;2022-08-31
5. Spectrum and tissue distribution of RB1 pathogenic alleles in mosaic retinoblastoma patients;Ophthalmic Genetics;2022-08-08
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