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Von Hippel-Lindau Disease [PDF]
Hereditary Cancer in Clinical Practice, 2005 A germline mutation in the Von-Hippel Lindau (VHL) gene predisposes carriers to development of abundantly vascularised tumours in the retina, cerebellum, spine, kidney, adrenal gland and pancreas. Most VHL patients die from the consequences of cerebellar
Hes Frederik J +3 more
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Von Hippel-Lindau Disease and Pheochromocytoma
Pediatric Neurology Briefs, 1993 Nineteen percent of 82 unselected patients with pheochromocytoma studied at the University of Freiburg, Germany, and the University of California, San Diego, were found to be gene carriers of von Hippel-Lindau disease.
J Gordon Millichap
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Indian Journal of Ophthalmology, 1988 Von Hippel Lindan disease is a rare congenital vascular malformation afflicting the retinal and central nervous system blood vessels. A boy aged 12 years suffering from this angiomatosis with bilateral involvement was examined.
Khare M, Varma Rajan
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Ожирение и метаболизм, 2011 Von Hippel-Lindau syndrome - a systemic disease manifesting with multiple tumor growth, inherited by autosomal-dominant type with high penetrance. Understanding the pathogenesis of the disease is important for determining the start time of screening for ...
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Von Hippel-Lindau Disease and Gadolinium MRI
Pediatric Neurology Briefs, 1991 Gadolinium-enhanced MRI was used to determine the frequency and distribution of CNS lesions in 50 patients with Von Hippel-Lindau Disease (VHL) at the National Institutes of Health, Bethesda, MD; University of Louisville, KY; and the Massachusetts ...
J Gordon Millichap
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The history of von Hippel-Lindau disease
Journal of Nephrology, 2006 Abstract: von Hippel-Lindau (vHL) disease is a heritable multisystem cancer syndrome that is associated with a germ line mutation of the vHL tumor suppressor gene on the short arm of chromosome 3. Affected individuals are at risk of developing various benign and malignant tumors of the central nervous system, kidneys, adrenal glands ...
MOLINO D. +3 more
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Von Hippel-Lindau Disease and the Eye
Journal of Ophthalmic & Vision Research, 2020 Retinal hemangioblastoma (also referred to as retinal capillary hemangioma) is a benign lesion originating from the endothelial and glial components of the neurosensory retina and optic nerve head.
Saeed Karimi +3 more
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Von Hippel-Lindau Disease: Familial Symptom Clusters
Pediatric Neurology Briefs, 1991 The clinical manifestations and prevalence of von Hippel-Lindau syndrome (HLS) were reported from the Department of Medicine, Albert-Ludwigs-Universitat, Freiburg im Breisgau, Germany, and Department of Pathology, University of Zurich, Switzerland.
J Gordon Millichap
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Somatic mosaicism in von Hippel-Lindau disease
Human Mutation, 2000 von Hippel-Lindau (VHL) disease is an autosomal dominant familial cancer syndrome predisposing to the development of retinal and central nervous system haemangioblastomas, pheochromocytomas, renal and pancreatic cancer. In the course of a molecular analysis conducted to detect germline mutations of this gene in von Hippel-Lindau patients and ...
MURGIA, ALESSANDRA +5 more
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Bilateral pheochromocytoma as first manifestation of von Hippel-Lindau disease: a case report [PDF]
The Turkish Journal of Pediatrics, 2012 Von Hippel-Lindau syndrome is an autosomal dominant disorder that includes susceptibility to hemangioblastomas of the eyes and central nervous system, renal clear cell carcinoma, multiple pancreatic cysts, serous cystadenomas and pancreatic ...
Gönül Catli +5 more
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