Results 81 to 90 of about 5,631,965 (202)

Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations

Stem Cell Research, 2019
Von Hippel-Lindau (VHL) syndrome is a familial cancer syndrome caused by mutations in the tumor suppressor gene VHL. We generated human iPSC lines from primary dermal fibroblasts of three VHL syndrome patients carrying distinct VHL germ line mutations (c.
Jens Schuster, Ambrin Fatima, Franziska Schwarz, Joakim Klar, Loora Laan, Niklas Dahl   +5 more
doaj   +1 more source

von Hippel-Lindau disease manifesting as a chiasmal syndrome

Survey of Ophthalmology, 1995
A 21-year-old woman presented with a two year history of progressive loss of vision in the left eye. Brain MRI revealed a supresellar mass felt to be most consistent with a meningioma. However, pathologic examination including special stains disclosed features characteristic of hemangioblastoma.
Jonathan Wirtschafter, Laura J. Balcer, Steven L. Galetta, Mark Curtis, Albert Maguire, Kevin Judy   +5 more
openaire   +2 more sources

Von Hippel Lindau Disease

, 1993
Von Hippel Lindau lesion on optic disc showing minimal increase in size over three year interval. Anatomy: Optic disc. Pathology: Hemangioblastoma. Disease/Diagnosis: Von Hippel Lindau disease. Clinical: Patient other eye was removed for hemangioblastoma.
William F. Hoyt, MD
core  

Von Hippel-Lindau disease (VHLD)

Acta Médica del Centro, 2009
Von Hippel-Lindau disease is one the 7000 known hereditary disorder. It is named after Dr. Eugen von Hippel; a German ophthalmologist who was the first to described the ocular angiomas in 1895. Equally, Dr. Arvid Lindau, a Swedish pathologist, begins the
Jorge Luis González Jara
doaj  

Von Hippel Lindau Disease

, 1970
Von Hippel Lindau Disease. Retinal photograph showing small whitish hemangiomablastoma. Note the dilated arterial and venous channels entering and leaving the tumor. Anatomy: Retina. Pathology: Hemangioblastoma.
William F. Hoyt, MD
core  

Von Hippel-Lindau disease with extramedullary and pancreatic involvement

, 2020
We report a patient with Von Hippel-Lindau disease who presented with an intradural extramedullary hemangioblastoma as a primary manifestation.Revisión por ...
Murillo-Díaz, Giuliana, Carreazo, Nilton Yhuri, Cucho Dávila, Victor Manuel, Pantigozo-Rimachi, Andrea   +3 more
core   +1 more source

Genetic linkage analysis of von hippel-lindau disease

, 1991
Genetik, von Hippel-Lindau, kromosom nr 3 ...
Sampson, J.S., Carvalho, J.G., Turner, G., Bentley, E., Jensen, Annette Møller, Oostra, B.A., Phipps, M., Gustavson, K.-H., Enblad, P., Harris, R., Latif, F., Nørby, Søren, Ferguson-Smith, M.A., Lerman, M., Yates, J.R., Berton, Z., Sørensen, Sven Asger, Williams, A., Maher, E.R., Affara, N.A., Benjamin, C., Eeg-Olofsson, O.   +21 more
core   +1 more source

Von Hippel Lindau syndrome: A systematic review of pharmaceutical treatments

Kidney Cancer
Background Patients with von Hippel-Lindau syndrome (VHL) have an increased risk of developing multiple neoplasms. Recently, multiple pharmacologic interventions have been assessed for the treatment of these VHL-associated neoplasms.
Gliceida M Galarza Fortuna, Zeynep Irem Ozay, Chadi Hage Chehade, Georges Gebrael, Haoran Li, Benjamin L Maughan   +5 more
doaj   +1 more source

Von Hippel Lindau Disease (Retinal Hemangioblastoma)

, 1992
Von Hippel Lindau Disease with large retinal hemangioblastoma. Continued view of the arteriole and venous channels leading to the tumor. Group with R1_C3a, R1_C3c, R1_C3d. Anatomy: Retina. Pathology: Hemangioblastoma. Disease/Diagnosis: Von Hippel Lindau
William F. Hoyt, MD
core  

Somatic Mosaicism in von Hippel-Lindau Disease

, 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.
MARTELLA, MADDALENA, PERILONGO, GIORGIO, OPOCHER, GIUSEPPE, R. POLLI, MURGIA, ALESSANDRA, VINANZI, CINZIA   +5 more
core   +1 more source