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Pregnancy in von Hippel-Lindau disease
American Journal of Obstetrics and Gynecology, 1999We retrospectively evaluated maternal and fetal outcomes in a series of women with von Hippel-Lindau disease. Data resulted from 56 pregnancies in 30 women. Symptoms related to von Hippel-Lindau disease occurred in 3 of 56 pregnancies. In this unselected group of patients with von Hippel-Lindau disease, most pregnancies had a favorable outcome with a ...
Philippe Grimbert +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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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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2013
von Hippel-Lindau (VHL) disease is an autosomal-dominant familial cancer syndrome associated with mutations of the VHL tumor suppressor gene (3p25-26). Its estimated incidence ranges from 1 in 36,000 to 1 in 53,000 with a penetrance of up to 95% by age 60. Genotype-phenotype correlation divides VHL into two broad clinical subtypes.
Angela, Chou +3 more
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von Hippel-Lindau (VHL) disease is an autosomal-dominant familial cancer syndrome associated with mutations of the VHL tumor suppressor gene (3p25-26). Its estimated incidence ranges from 1 in 36,000 to 1 in 53,000 with a penetrance of up to 95% by age 60. Genotype-phenotype correlation divides VHL into two broad clinical subtypes.
Angela, Chou +3 more
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Der Radiologe, 2013
Von Hippel-Lindau syndrome is an autosomal dominant inherited phacomatosis with a predisposition for the central nervous system and retina. There is variable expression with hemangioblastomas in the brain, medulla oblongata, spinal chord, renal carcinoma, pheochromocytoma, pancreatic cysts and islet cell tumors as well as tumors of the endolymphatic ...
W, Reith, H, Körner
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Von Hippel-Lindau syndrome is an autosomal dominant inherited phacomatosis with a predisposition for the central nervous system and retina. There is variable expression with hemangioblastomas in the brain, medulla oblongata, spinal chord, renal carcinoma, pheochromocytoma, pancreatic cysts and islet cell tumors as well as tumors of the endolymphatic ...
W, Reith, H, Körner
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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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2010
Von Hippel-Lindau syndrome (VHLS) is an autosomal dominant familial cancer syndrome arising from germ-line inactivation of the VHL gene on the short arm of chromosome 3. VHLS manifests in a myriad of hyper-vascular tumors of both benign and malignant nature.
Jenny J, Kim +2 more
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Von Hippel-Lindau syndrome (VHLS) is an autosomal dominant familial cancer syndrome arising from germ-line inactivation of the VHL gene on the short arm of chromosome 3. VHLS manifests in a myriad of hyper-vascular tumors of both benign and malignant nature.
Jenny J, Kim +2 more
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Neuro-ophthalmology of von Hippel-Lindau
Current Neurology and Neuroscience Reports, 2004von Hippel-Lindau (VHL) disease is a multisystem inherited cancer syndrome with characteristic tumors and a known genetic basis. Patients with VHL develop, among other tumors, retinal capillary hemangiomas, central nervous system hemangioblastomas, renal clear cell carcinomas, and pheochromocytomas.
Eric W, Fitz, Steven A, Newman
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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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Belzutifan for Renal Cell Carcinoma in Von Hippel–Lindau Disease
New England Journal of Medicine, 2021Kimryn Rathmell +2 more
exaly