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JAMA, 1961
The combination of cystic and angiomatous lesions called von Hippel-Lindau's disease was sought for among 90 members of an afflicted family, and various manifestations were found in 11 persons. Angiomas were found in the cerebellum in 5 cases, in the brain stem in 3, and in the retina in 3.
L A, CHRISTOFERSON +2 more
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The combination of cystic and angiomatous lesions called von Hippel-Lindau's disease was sought for among 90 members of an afflicted family, and various manifestations were found in 11 persons. Angiomas were found in the cerebellum in 5 cases, in the brain stem in 3, and in the retina in 3.
L A, CHRISTOFERSON +2 more
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Annual Review of Pathology: Mechanisms of Disease, 2007
von Hippel-Lindau disease, which is characterized by an increased risk of hemangioblastomas, clear cell renal carcinomas, and pheochromocytomas, is caused by inactivating mutations of the VHL tumor suppressor gene. The VHL gene product, pVHL, has multiple functions, but the best documented, and the one most clearly linked to tumor development, relates ...
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von Hippel-Lindau disease, which is characterized by an increased risk of hemangioblastomas, clear cell renal carcinomas, and pheochromocytomas, is caused by inactivating mutations of the VHL tumor suppressor gene. The VHL gene product, pVHL, has multiple functions, but the best documented, and the one most clearly linked to tumor development, relates ...
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Archives of Ophthalmology, 1964
The von Hippel-Lindau syndrome is one of the hereditary phakomatoses. It is characterized by hamartomatous lesions which occur in the cerebellum, retina, and other organs. Lindau reported that 25% of patients with angiomatosis retinae have associated intracranial lesions.
S, JOE, W H, SPENCER
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The von Hippel-Lindau syndrome is one of the hereditary phakomatoses. It is characterized by hamartomatous lesions which occur in the cerebellum, retina, and other organs. Lindau reported that 25% of patients with angiomatosis retinae have associated intracranial lesions.
S, JOE, W H, SPENCER
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2018
Phakomatoses (phakoma = birthmark) are a group of diseases or syndromes that have hamartomas (tumorous malformations composed of tissues normally present at the location where they develop) of the skin, brain, and eye (oculoneurocutaneous syndromes).
Stephen H, Tsang, Tarun, Sharma
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Phakomatoses (phakoma = birthmark) are a group of diseases or syndromes that have hamartomas (tumorous malformations composed of tissues normally present at the location where they develop) of the skin, brain, and eye (oculoneurocutaneous syndromes).
Stephen H, Tsang, Tarun, Sharma
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The Lancet, 2004
von Hippel-Lindau disease The disease that has perpetuated the names of two prestigious European physicians, Eugen von Hippel and Arvid Lindau, is a familial syndrome characterised by the occurrence of highly vascular tumours in different organs. The main manifestations are haemangioblastomas of the retina and CNS, clear-cell renal cell carcinomas and ...
Stéphane, Richard +3 more
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von Hippel-Lindau disease The disease that has perpetuated the names of two prestigious European physicians, Eugen von Hippel and Arvid Lindau, is a familial syndrome characterised by the occurrence of highly vascular tumours in different organs. The main manifestations are haemangioblastomas of the retina and CNS, clear-cell renal cell carcinomas and ...
Stéphane, Richard +3 more
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Developmentally arrested structures preceding cerebellar tumors in von Hippel–Lindau disease [PDF]
Modern Pathology, 2011 There is increasing evidence that suggests that knockout of tumor-suppressor gene function causes developmental arrest and protraction of cellular differentiation.
Alexander Vortmeyer +2 more
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European Journal of Cancer, 1994
Germline mutations in the VHL tumour suppressor gene may cause a variety of phenotypes including von Hippel-Lindau (VHL) disease, familial phaeochromocytoma and inherited polycythaemia. VHL disease is a multisystem familial cancer syndrome and is the commonest cause of familial renal cell carcinoma (RCC).
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Germline mutations in the VHL tumour suppressor gene may cause a variety of phenotypes including von Hippel-Lindau (VHL) disease, familial phaeochromocytoma and inherited polycythaemia. VHL disease is a multisystem familial cancer syndrome and is the commonest cause of familial renal cell carcinoma (RCC).
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von Hippel-Lindau Disease and Erythrocytosis
Journal of Clinical Oncology, 2012The increased transcription of HIF target genes plays a key role in the promotion of the angiogenic phenotype that is a characteristic of VHL disease–related tumors. The deregulated oxygen sensing pathway is responsible for the clinical picture that is characteristic of congenital polycythemia as a result of the homozygous VHLR200W mutation, which is ...
Capodimonti, Sara +9 more
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Von Hippel-Lindau Disease in an Adolescent
Pediatrics, 1987Von Hippel-Lindau disease is a hereditary neo-plastic syndrome that generally manifests in early adulthood but does present occasionally in adolescence. In the past, diagnosis and management of this disorder fell within the domain of internists and surgeons.
M L, Seitz +4 more
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Phakomatoses (phakoma = birthmark) are a group of diseases or syndromes that have hamartomas (tumorous malformations composed of tissues normally present at the location where they develop) of the skin, brain, and eye (oculoneurocutaneous syndromes).
Luanna, Chan +3 more
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Luanna, Chan +3 more
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