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Von Hippel-Lindau Syndrome

Known as: Angiomatoses, Familial Cerebello-Retinal, Lindau Disease, von-hippel lindau disease 
An inherited familial cancer syndrome which is characterized by development of capillary hemangioblastomas of the central nervous system and retina… 
National Institutes of Health

Related topics

Related topics

38 relations
Adenocarcinoma of ampulla of VaterAutosomal dominant inheritanceCentral Nervous System HemangioblastomaCerebellar hemangioblastoma

Broader (4)

Brain NeoplasmsEye NeoplasmsHereditary DiseasesSyndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2001
Highly Cited
2001
Vascular tumors in livers with targeted inactivation of the von Hippel-Lindau tumor suppressor.
von Hippel-Lindau (VHL) disease is a pleomorphic familial tumor syndrome that is characterized by the development of highly… 
Highly Cited
2001
Highly Cited
2001
FIH-1: a novel protein that interacts with HIF-1alpha and VHL to mediate repression of HIF-1 transcriptional activity.
Hypoxia-inducible factor 1 (HIF-1) is a master regulator of oxygen homeostasis that controls angiogenesis, erythropoiesis, and… 
Highly Cited
2000
Highly Cited
2000
Ubiquitination of hypoxia-inducible factor requires direct binding to the β-domain of the von Hippel–Lindau protein
von Hippel–Lindau (VHL) disease is a hereditary cancer syndrome that is characterized by the development of multiple vascular… 
Highly Cited
2000
Highly Cited
2000
Hypoxia Inducible Factor-α Binding and Ubiquitylation by the von Hippel-Lindau Tumor Suppressor Protein*
The von Hippel-Lindau tumor suppressor protein (pVHL) has emerged as a key factor in cellular responses to oxygen availability… 
Highly Cited
1999
Highly Cited
1999
The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis
Hypoxia-inducible factor-1 (HIF-1) has a key role in cellular responses to hypoxia, including the regulation of genes involved in… 
Highly Cited
1995
Highly Cited
1995
Tumour suppression by the human von Hippel-Lindau gene product
A partial cDNA sequence for the gene linked to the von Hippel–Lindau (VHL) syndrome was reported in 1993. Mutation or loss of… 
Highly Cited
1994
Highly Cited
1994
Mutations of the VHL tumour suppressor gene in renal carcinoma
Multiple, bilateral renal carcinomas are a frequent occurrence in von Hippel–Lindau (VHL) disease. To elucidate the aetiological… 
Highly Cited
1994
Highly Cited
1994
Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma.
Mutational inactivation and allelic loss of the von Hippel-Lindau (VHL) gene appear to be causal events for the majority of… 
Highly Cited
1993
Highly Cited
1993
Identification of the von Hippel-Lindau disease tumor suppressor gene.
A gene discovered by positional cloning has been identified as the von Hippel-Lindau (VHL) disease tumor suppressor gene. A… 
Highly Cited
1989
Highly Cited
1989
Hemangioblastomas of the central nervous system. A 10-year study with special reference to von Hippel-Lindau syndrome.
The findings of a 10-year study (1976 to 1986) conducted in southwest Germany on hemangioblastomas (HBL's) of the central nervous… 
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