Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene
Author:
Publisher
Elsevier BV
Subject
Genetics
Reference41 articles.
1. NF1 microdeletion syndrome: refined fish characterization of sporadic and familial deletions with locus-specific probe;Riva;Am. J. Hum. Genet.,2000
2. Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions;Jenne;Am. J. Hum. Genet.,2001
3. NF1 microdeletion breakpoints are clustered at flanking repetitive sequences;Dorschner;Hum. Mol. Genet.,2000
4. Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions;Venturin;Hum. Genet.,2004
5. Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumor suppressor region;Kehrer-Sawatzki;J. Med. Genet.,2003
Cited by 14 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. Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes;Human Genetics;2024-06
2. Nf1 in heart development: a potential causative gene for congenital heart disease: a narrative review;Physiological Genomics;2023-10-01
3. Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions;Genes;2021-10-19
4. Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth;Human Genetics;2017-08-03
5. Emerging genotype–phenotype relationships in patients with large NF1 deletions;Human Genetics;2017-02-17
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