Results 181 to 190 of about 9,097,505 (214)
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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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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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Renal pathology in von Hippel-Lindau disease
Human Pathology, 1988Von Hippel-Lindau disease, a rare autosomal disorder, is associated with multiple lesions, including a high incidence of renal lesions and CNS hemangioblastomas. Renal lesions have traditionally been classified as either benign cysts or solid renal cell carcinomas with or without cystic degeneration.
D, Solomon, A, Schwartz
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Belzutifan in von Hippel-Lindau disease
The Lancet OncologyN ...
Ciccarese C., Iacovelli R., Tortora G.
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2009
Von Hippel–Lindau (vHL) disease has been attributed to Eugen von Hippel’s descriptions of the retinal angiomatosis in 1904 and Arvid Lindau’s descriptions of angiomatous tumors in the cerebellum and spinal cord in 1927. These tumors have subsequently been categorized as hemangioblastomas.
Tarik Tihan, Adekunle M. Adesina
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Von Hippel–Lindau (vHL) disease has been attributed to Eugen von Hippel’s descriptions of the retinal angiomatosis in 1904 and Arvid Lindau’s descriptions of angiomatous tumors in the cerebellum and spinal cord in 1927. These tumors have subsequently been categorized as hemangioblastomas.
Tarik Tihan, Adekunle M. Adesina
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