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Photocoagulation for retinal hemangioblastoma in Von Hippel-Lindau disease [PDF]
Introduction. Von Hippel–Lindau disease is a hereditary, autosomal dominant, tumor syndrome with a predisposition to developing various benign and malignant tumors. Retinal hemangioblastoma is often the presenting manifestation.
Vasilijević Jelena +4 more
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Familial erythrocytosis 2 and von Hippel-Lindau disease in the same pediatric patient
Background: Patients with familial erythrocytosis type 2 have no increased risk of von Hippel-Lindau-associated tumors, although mutations in the VHL gene cause both pathologies.
Paulina M. Núñez-Martínez +6 more
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Hemangioblastomas are low-grade, highly vascular tumors that are usually associated with von Hippel-Lindau syndrome. Hemangioblastomas most commonly occur in the cerebellum, and intradural extramedullary hemangioblastoma of the cauda equina is very ...
Mi-Kyung Um +6 more
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Double peeling and endolaser ablation for retinal detachment in von Hippel-Lindau disease
Purpose: To describe a successful surgical approach to macula-off retinal detachment in von Hippel-Lindau disease. Observations: A 28-year-old male with a history of von Hippel-Lindau disease presented to us with significant worsening of vision in his ...
Felipe Mallmann, Marcelo Krieger Maestri
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9º Simpósio Médico Internacional de VHL; III Encontro de Famílias com a Síndrome de VHL Data:
Resumos escolhidos para publicação. Nessa edição, os títulos foram: Extramitochondrial Fumarate Inhibits Multiple 2-OG Oxygenases in Fumarate Hydratase Deficient Cells; What is the Best Treatment for Renal Lesions in VHL?; Characterization of the VHL-ECM
Instituto Nacional de Câncer José de Alencar Gomes da Silva
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Background Von Hippel-Lindau disease is a rare hereditary syndrome caused by germinal mutations in a von Hippel-Lindau tumor-suppressing gene. Retinal hemangioblastoma is the ocular hallmark lesion of von Hippel-Lindau disease.
Angelo Maria Minnella +5 more
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Supratentorial Haemangioblastoma without Von Hippel-Lindau Disease – A Rare Case Report with Review of Literature [PDF]
Haemangioblastomas are slow-growing, benign and vascular neoplasms of the central nervous system. They are usually infratentorial, occurring either sporadically in approximately 67% of cases or as a manifestation of Von Hippel-Lindau (VHL) disease in ...
Salman Tehran Shaikh +1 more
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La enfermedad de von Hippel-Lindau es un síndrome neoplásico familiar autosómico dominante, multiorgánico, que es causado por mutaciones genéticas del gen supresor de tumores vHL ubicado en el brazo corto del cromosoma 3 (3p25-3p26).
Alberto Ramírez Espinoza +3 more
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Pancreatic neuroendocrine tumours in patients with von Hippel-Lindau disease
Von Hippel-Lindau disease is a highly penetrant autosomal genetic disorder caused by a germline mutation in the tumour suppressor gene, manifesting with the formation of various tumours, including neuroendocrine tumours of the pancreas.
Agnieszka Zwolak +5 more
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Aggressive retinal hemangioblastoma with scleral penetration in Von-Hippel-Lindau syndrome
Retinal hemangioblastoma is associated with Von-Hippel–Lindau syndrome. Here, we report the case of a 50-year-old man who had a retinal hemangioblastoma that penetrated the sclera and presented as an extra-ocular mass.
Ferzana Mohammed +3 more
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