BACKGROUND Von Hippel Lindau disease is an autosomal dominant multisystem/multitumoral cancer disease diagnosed by clinical, radiologic and genetic findings. Its prevalence has been estimated to be of 1/36000 inhabitants. The tumours can be benign or malignant. CASE REPORT We represent MR findings of a family with ten children. Mother and five siblings had von Hippel-Lindau disease. CONCLUS...

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 neuroendocrine tumors, pheochromocytoma, endolymphatic sac tumors, and cystadenomas of the epididymis and broad ligament. We present a 16-year-old male who ...

A probable diagnosis of von HippelLindau disease was made in a two generation family in which the proband had a phaeochromocytoma, renal cysts, and multiple cerebral cavernomas. His sister had multiple similar cerebral vascular lesions and his father died from renal carcinoma aged 42. Although the family did not satisfy the conventional diagnostic criteria for von Hippel-Lindau disease, an unde...

Von Hippel-Lindau disease (VHL disease) is a hereditary cancer predisposition syndrome caused by mutations of the von Hippel-Lindau tumor suppressor gene. The gene product, pVHL, regulates the level of proteins that play a central role in protecting cells against hypoxia. Clinical hallmarks of von Hippel-Lindau disease are the development of central nervous system hemangioblastomas, renal cell ...

1Goethe-Universität Frankfurt am Main, Institut für theoretische Physik, Max-von-Laue-Straße 1, D-60438 Frankfurt am Main, Germany 2Computation-based Science and Technology Research Center, The Cyprus Institute, 20 Kavafi Street, 2121 Nicosia, Cyprus 3Department of Physics, University of Cyprus, P.O. Box 20537, 1678 Nicosia, Cyprus 4NIC, DESY, Platanenallee 6, 15738 Zeuthen, Germany 5Università...

139 Address correspondence to Paul von Hippel, School of Music, Ohio State University, 1866 College Ave., Columbus, OH 43210. (e-mail: [email protected]). ISSN: 0730-7829. Send requests for permission to reprint to Rights and Permissions, University of California Press, 2000 Center St., Ste. 303, Berkeley, CA 94704-1223. Questioning a Melodic Archetype: Do Listeners Use GapFill to Cla...

Biol. 22(15):5319-5336. Mol. Cell. Hippel-Lindau Tumor Suppressor Protein. Nuclear-Cytoplasmic Trafficking of the von Degradation of Hypoxia-Inducible Factor Requires Oxygen-Dependent Ubiquitination and 2002. Isabelle Groulx and Stephen Lee Suppressor Protein the von Hippel-Lindau Tumor Nuclear-Cytoplasmic Trafficking of Hypoxia-Inducible Factor Requires and Degradation of Oxygen-Dependent Ubiq...

OBJECTIVES Cerebellar haemangioblastoma occurs sporadically or as a component tumour of autosomal dominant von Hippel-Lindau disease. Biallelic inactivation of the VHL tumour suppressor gene, which is located on chromosome 3p, has been shown to be involved in the pathogenesis of both tumour entities. Mechanisms of VHL inactivation are intragenic mutations, mitotic recombination events, and hype...

Von Hippel-Lindau disease is a rare, familial disease consisting of multiple tumors, which can present in the eyes, brain, adrenal gland, pancreas, liver, spinal cord, kidneys, or other areas of the body. The renal tumors are primarily renal cell carcinoma. Renal involvement may be the primary manifestation, but most frequently it is a secondary manifestation. This article presents an overview ...