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International Ophthalmology Clinics, 2001
In recent years advances have been made in the clinical and genetic aspects of von Hippel-Lindau disease (VHL). Retinal capillary hemangioma is the most common manifestation of VHL disease and, therefore, ophthalmologists are frequently involved in the care of patients with this disease.
D, Gauthier, D J, D'Amico, S, Mukai
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In recent years advances have been made in the clinical and genetic aspects of von Hippel-Lindau disease (VHL). Retinal capillary hemangioma is the most common manifestation of VHL disease and, therefore, ophthalmologists are frequently involved in the care of patients with this disease.
D, Gauthier, D J, D'Amico, S, Mukai
+6 more sources
Microscopy Research and Technique, 2003
AbstractVon Hippel‐Lindau (VHL) disease is an uncommon, autosomal dominant hereditary multitumor syndrome caused by germline alterations of the VHL gene, which has been cloned recently and identified as a tumor suppressor gene. The major lesions in VHL disease include hemangioblastomas in the central nervous system and retina, clear cell renal cell ...
Toshiaki, Sano, Hidehisa, Horiguchi
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AbstractVon Hippel‐Lindau (VHL) disease is an uncommon, autosomal dominant hereditary multitumor syndrome caused by germline alterations of the VHL gene, which has been cloned recently and identified as a tumor suppressor gene. The major lesions in VHL disease include hemangioblastomas in the central nervous system and retina, clear cell renal cell ...
Toshiaki, Sano, Hidehisa, Horiguchi
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Von Hippel–Lindau Disease [PDF]
Journal of Pediatric Genetics, 2016 Von Hippel-Lindau disease is an autosomal dominant syndrome which occurs secondary to germline mutations in the VHL tumor suppressor gene, located on chromosome 3. Clinically von Hippel-Lindau disease is characterized by an increased risk of developing simple visceral cysts, most commonly in the pancreas and kidneys, in addition to an increased risk of
Kelly R McMahon +1 more
exaly +3 more sources
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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Cancer, 1999
Von Hippel-Lindau (VHL) syndrome (OMIM 193300) is an autosomal dominant disorder caused by deletions or mutations in a tumor suppressor gene mapped to human chromosome 3p25. It is characterized clinically by vascular tumors, including retinal and central nervous system hemangioblastomas (cerebellar, spinal, and brain stem). Hemangioblastomas are benign
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Von Hippel-Lindau (VHL) syndrome (OMIM 193300) is an autosomal dominant disorder caused by deletions or mutations in a tumor suppressor gene mapped to human chromosome 3p25. It is characterized clinically by vascular tumors, including retinal and central nervous system hemangioblastomas (cerebellar, spinal, and brain stem). Hemangioblastomas are benign
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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
openaire +2 more sources