Germline mutations in the von Hippel–Lindau gene in Italian patients
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference28 articles.
1. Molecular characterization of large deletions in the von Hippel–Lindau (VHL) gene by quantitative real-time PCR: the hypothesis of an alu-mediated mechanism underlying VHL gene rearrangements;Casarin;Mol. Diagn. Ther.,2006
2. Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: correlations with phenotype;Chen;Hum. Mutat,1995
3. Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia;Ciotti;J. Mol. Diagn,2004
4. Germline mutations in the von Hippel–Lindau disease (VHL) gene in Japanese VHL;Hum. Mol. Genet.,1995
5. Identification of intragenic mutations in the von Hippel–Lindau disease tumour suppressor gene and correlation with disease phenotype;Crossey;Hum. Mol. Genet.,1994
Cited by 8 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. Germline variants in the Von Hippel-Lindau tumor suppressor gene in Cuban patients;Egyptian Journal of Medical Human Genetics;2024-03-20
2. Pheochromocytomas and paragangliomas in von Hippel–Lindau disease: not a needle in a haystack;Endocrine Connections;2021-11-01
3. Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel–Lindau Disease;Frontiers in Genetics;2019-09-18
4. Novel genotype–phenotype correlations in five Chinese families with Von Hippel–Lindau disease;Endocrine Connections;2018-07
5. Pedigree analysis, diagnosis and treatment in Von Hippel-Lindau syndrome: A report of three cases;Oncology Letters;2018-02-05
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