von Hippel–Lindau disease: A clinical and scientific review

ER Maher, HPH Neumann, S Richard - European Journal of Human …, 2011 - nature.com
The autosomal dominantly inherited disorder von Hippel–Lindau disease (VHL) is caused
by germline mutations in the VHL tumour suppressor gene (TSG). VHL mutations …

von Hippel–Lindau disease

P Chittiboina, RR Lonser - Handbook of clinical neurology, 2015 - Elsevier
Abstract von Hippel–Lindau (VHL) disease is an inheritable condition with an incidence of 1
in 36 000 live births. Individuals with VHL develop benign and malignant tumors including …

Genetic analysis of von Hippel‐Lindau disease

M Nordstrom‐O'Brien, RB van der Luijt… - Human …, 2010 - Wiley Online Library
Mutations in the von Hippel-Lindau (VHL) gene are responsible for VHL disease, congenital
polycythemia, and are found in many sporadic tumor types as well. Reports of VHL …

Von Hippel-Lindau disease: genetics and role of genetic counseling in a multiple neoplasia syndrome

SM Nielsen, L Rhodes, I Blanco, WK Chung… - Journal of Clinical …, 2016 - ascopubs.org
Von Hippel-Lindau disease (VHL) is one of the most common inherited neoplasia
syndromes and is characterized by highly vascular tumors of the eyes, brain, and spine, as …

Hereditary kidney cancer syndromes

NB Haas, KL Nathanson - Advances in chronic kidney disease, 2014 - Elsevier
Inherited susceptibility to kidney cancer is a fascinating and complex topic. Our knowledge
about types of genetic syndromes associated with an increased risk of disease is continually …

Improved detection of germline mutations in the von Hippel‐Lindau disease tumor suppressor gene

C Stolle, G Glenn, B Zbar, JS Humphrey… - Human …, 1998 - Wiley Online Library
Abstract von Hippel‐Lindau disease (VHL) is an inherited neoplastic disorder characterized
by the development of tumors in the eyes, brain, spinal cord, inner ear, adrenal gland …

Pheochromocytoma and paraganglioma: genetics, diagnosis, and treatment

L Fishbein - Hematology/Oncology Clinics, 2016 - hemonc.theclinics.com
Neuroendocrine tumors arising from the adrenal medulla and extra-adrenal ganglia are
called pheochromocytomas and paragangliomas (PCCs/PGLs), respectively. PCCs/PGLs …

von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF

MA Hoffman, M Ohh, H Yang, JM Klco… - Human molecular …, 2001 - academic.oup.com
Abstract von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome caused by germ
line mutation of the von Hippel-Lindau tumor suppressor gene (VHL). Tumors observed in …

Contrasting effects on HIF-1α regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease

SC Clifford, ME Cockman, AC Smallwood… - Human molecular …, 2001 - academic.oup.com
Abstract The von Hippel-Lindau tumour suppressor gene product (pVHL) associates with the
elongin B and C and Cul2 proteins to form a ubiquitin-ligase complex (VCBC). To date, the …

A current review of the etiology, diagnosis, and treatment of pediatric pheochromocytoma and paraganglioma

SG Waguespack, T Rich, E Grubbs… - The Journal of …, 2010 - academic.oup.com
Context: Pheochromocytomas and paragangliomas (PHEO/PGL) are neuroendocrine
tumors that arise from sympathetic and parasympathetic paraganglia. Diagnosed rarely …