نتایج جستجو برای: von hippel lindau syndrome

تعداد نتایج: 713978  

Journal: :Arquivos Brasileiros de Endocrinologia & Metabologia 1999

Journal: :Journal of medical genetics 1970
M H Shokeir

Von Hippel-Lindau syndrome is characterized by angiomatous cysts of the retina, cerebellum, abdominal organs (principally the kidneys and pancreas), and epididymis. Von Hippel (1904) first described angiomatous formation in the retina. Lindau (1926) was the first to recognize the related occurrence of haemangioblastomata of the cerebellum and abdominal organs. Phaeochromocytoma with hypertensio...

Journal: :Southern medical journal 1972
S R Gelman J A O'Leary M Feldman

Seven new cases of pregnancy combined with von Willebrand's disease have been reported. Altogether the patients had 11 deliveries, and one abortion after 10 weeks' gestation. The diagnosis was based on the determination of the bleeding time, factor VIII coagulant activity (VIII C), factor VIII-related antigen (VIII RAg) and the ristocetin cofactor (VIII RCoF). Two of our 6 parturients showed pr...

Journal: :Galicia Clínica 2016

Journal: :Journal of the National Cancer Institute 1998
K M Egan E Giovannucci

lar genetic mechanisms. Nephrol Dial Transplant 1996;11 Suppl 6:34–7. (10) Thoenes W, Storkel S, Rumpelt HJ, Moll R. Cytomorphological typing of renal cell carcinoma—a new approach. Eur Urol 1990;18 (Suppl 2):6–9. (11) Gnarra JR, Duan DR, Weng Y, Humphrey JS, Chen DY, Lee S, et al. Molecular cloning of the von Hippel–Lindau tumor suppressor gene and its role in renal carcinoma. Biochim Biophys ...

Journal: :Haematologica 2012
Charline Ladroue David Hoogewijs Sophie Gad Romain Carcenac Federica Storti Michel Barrois Anne-Paule Gimenez-Roqueplo Michel Leporrier Nicole Casadevall Olivier Hermine Jean-Jacques Kiladjian André Baruchel Fadi Fakhoury Brigitte Bressac-de Paillerets Jean Feunteun Nathalie Mazure Jacques Pouysségur Roland H Wenger Stéphane Richard Betty Gardie

BACKGROUND Congenital secondary erythrocytoses are due to deregulation of hypoxia inducible factor resulting in overproduction of erythropoietin. The most common germline mutation identified in the hypoxia signaling pathway is the Arginine 200-Tryptophan mutant of the von Hippel-Lindau tumor suppressor gene, resulting in Chuvash polycythemia. This mutant displays a weak deficiency in hypoxia in...

2012
Ayman I Omar

INTRODUCTION Hemangioblastomas are highly vascular tumors that can arise within the central nervous system as well as other organ systems within the body. They can arise sporadically or as part of von Hippel-Lindau syndrome. Those arising in critical locations within the central nervous system can be difficult to resect surgically and therefore pose a significant challenge and result in morbidi...

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