Genotype-phenotype correlations in VHL exon deletions
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference27 articles.
1. Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: Evidence for a founder effect;Brauch;Hum Genet,1995
2. Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients;Cascón;Hum Mutat,2007
3. Inactivation of the von Hippel-Lindau (VHL) tumour suppressor gene and allelic losses at chromosome arm 3p in primary renal cell carcinoma: Evidence for a VHL-independent pathway in clear cell renal tumourigenesis;Clifford;Genes Chromosomes Cancer,1998
4. Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease;Clifford;Hum Mol Genet,2001
5. Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene: Correlation with disease phenotype;Crossey;Hum Mol Genet,1994
Cited by 67 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. Phenotypic and Genotypic Features of a Chinese Cohort with Retinal Hemangioblastoma;Genes;2024-09-11
2. The genetic differences between types 1 and 2 in von Hippel-Lindau syndrome: comprehensive meta-analysis;BMC Ophthalmology;2024-08-13
3. Metabolomic landscape of renal cell carcinoma in von Hippel-Lindau syndrome in a Chinese cohort;iScience;2024-07
4. Monogenic Kidney Diseases in Kidney Transplantation;Kidney International Reports;2023-12
5. Hereditary predisposition to kidney cancer: cancer syndromes, multisystemic disorders, and nephropathies;Sechenov Medical Journal;2023-08-14
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