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… (More)
National Institutes of Health

Related topics

Related topics

38 relations
Adenocarcinoma of ampulla of VaterAutosomal dominant inheritanceCentral Nervous System HemangioblastomaCerebellar hemangioblastoma
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Broader (4)

Brain NeoplasmsEye NeoplasmsHereditary DiseasesSyndrome

Papers overview

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Review
2004
Review
2004
Von Hippel-Lindau disease.
Germline mutations in the VHL tumour suppressor gene may cause a variety of phenotypes including von Hippel-Lindau (VHL) disease… (More)
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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… (More)
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Highly Cited
2000
Highly Cited
2000
Hypoxia inducible factor-alpha 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… (More)
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Review
1999
Review
1999
Von Hippel-Lindau syndrome. A pleomorphic condition.
Von Hippel-Lindau (VHL) syndrome (OMIM 193300) is an autosomal dominant disorder caused by deletions or mutations in a tumor… (More)
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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… (More)
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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… (More)
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1992
1992
Central nervous system lesions in von Hippel-Lindau syndrome.
CNS manifestations were studied in 97 gene carriers of von Hippel-Lindau syndrome (HLS). Haemangioblastomas of the CNS were found… (More)
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Highly Cited
1991
Highly Cited
1991
Pancreatic lesions in the von Hippel-Lindau syndrome.
Common manifestations of the von Hippel-Lindau syndrome, an autosomally dominant inherited cancer-prone disorder, include retinal… (More)
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Highly Cited
1991
Highly Cited
1991
Von Hippel-Lindau disease: a genetic study.
Genetic aspects of von Hippel-Lindau (VHL) disease were studied in familial and isolated cases. Complex segregation analysis with… (More)
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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… (More)
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