High Frequency of Mosaicism among Patients with Neurofibromatosis Type 1 (NF1) with Microdeletions Caused by Somatic Recombination of the JJAZ1 Gene
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference44 articles.
1. Translocation and gross deletion breakpoints in human inherited disease and cancer I: nucleotide composition and recombination-associated motifs;Abeysinghe;Hum Mutat,2003
2. Mutational mechanisms of Williams-Beuren syndrome deletions;Bayes;Am J Hum Genet,2003
3. Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2;Bi;Am J Hum Genet,2003
4. Long-term potentiation in mice lacking the neural cell adhesion molecule L1;Bliss;Curr Biol,2000
5. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17;Chance;Hum Mol Genet,1994
Cited by 122 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. Pacak–Zhuang syndrome: a model providing new insights into tumor syndromes;Endocrine-Related Cancer;2023-07-14
2. Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations;Cancers;2023-02-14
3. Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk;Annual Review of Genomics and Human Genetics;2022-08-31
4. Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype;Genes;2022-06-23
5. The RASopathies: Biology, genetics and therapeutic options;Advances in Cancer Research;2022
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