Von Hippel-Lindau disease.

PubWeight™: 0.89‹?›

🔗 View Article (PMID 26564077)

Published in Handb Clin Neurol on January 01, 2015

Authors

Prashant Chittiboina1, Russell R Lonser2

Author Affiliations

1: Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA. Electronic address: prashant.chittiboina@nih.gov.
2: Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Department of Neurological Surgery, Ohio State University Wexner Medical Center, Columbus, OH, USA.

Articles cited by this

(truncated to the top 100)

Identification of the von Hippel-Lindau disease tumor suppressor gene. Science (1993) 11.95

Mutations of the VHL tumour suppressor gene in renal carcinoma. Nat Genet (1994) 10.14

Phaeochromocytoma. Lancet (2005) 8.73

Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med (2002) 6.94

Inhibition of HIF is necessary for tumor suppression by the von Hippel-Lindau protein. Cancer Cell (2002) 6.32

von Hippel-Lindau disease. Lancet (2003) 6.20

Molecular basis of the VHL hereditary cancer syndrome. Nat Rev Cancer (2002) 5.63

Inhibition of HIF2alpha is sufficient to suppress pVHL-defective tumor growth. PLoS Biol (2003) 5.14

LINDAU'S DISEASE. REVIEW OF THE LITERATURE AND STUDY OF A LARGE KINDRED. Am J Med (1964) 4.86

HIF activation identifies early lesions in VHL kidneys: evidence for site-specific tumor suppressor function in the nephron. Cancer Cell (2002) 4.82

Clinical features and natural history of von Hippel-Lindau disease. Q J Med (1990) 4.71

Von Hippel-Lindau disease: a genetic study. J Med Genet (1991) 3.61

Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature (1988) 3.27

Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. Lancet (1991) 3.10

Mutation and cancer: neuroblastoma and pheochromocytoma. Am J Hum Genet (1972) 2.99

Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. Hum Mutat (1995) 2.91

The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine tumors: pheochromocytoma, paraganglioma, and medullary thyroid cancer. Pancreas (2010) 2.84

Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum Mutat (1996) 2.80

Differential gene up-regulation by hypoxia-inducible factor-1alpha and hypoxia-inducible factor-2alpha in HEK293T cells. Cancer Res (2005) 2.78

Effect of pregnancy on hemangioblastoma development and progression in von Hippel-Lindau disease. J Neurosurg (2012) 2.65

Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Hum Mutat (1998) 2.64

Up-regulation of hypoxia-inducible factors HIF-1alpha and HIF-2alpha under normoxic conditions in renal carcinoma cells by von Hippel-Lindau tumor suppressor gene loss of function. Oncogene (2000) 2.47

von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet (2011) 2.45

Hemangioblastomas of the central nervous system. A 10-year study with special reference to von Hippel-Lindau syndrome. J Neurosurg (1989) 2.43

von Hippel-Lindau disease: genetic, clinical, and imaging features. Radiology (1995) 2.38

The natural history of hemangioblastomas of the central nervous system in patients with von Hippel-Lindau disease. J Neurosurg (2003) 2.34

The relationship between renal tumor size and metastases in patients with von Hippel-Lindau disease. J Urol (2004) 2.32

Genetics of human cancer. Annu Rev Genet (1986) 2.28

Inhibition of hypoxia-inducible factor is sufficient for growth suppression of VHL-/- tumors. Mol Cancer Res (2004) 2.27

Pancreatic involvement in von Hippel-Lindau disease. The Groupe Francophone d'Etude de la Maladie de von Hippel-Lindau. Gastroenterology (2000) 2.16

von Hippel-Lindau disease affecting 43 members of a single kindred. Medicine (Baltimore) (1989) 2.08

Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A (2010) 2.05

Assessment of tumor growth in pancreatic neuroendocrine tumors in von Hippel Lindau syndrome. J Am Coll Surg (2013) 2.02

Low-grade adenocarcinoma of probable endolymphatic sac origin A clinicopathologic study of 20 cases. Cancer (1989) 1.92

Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. JAMA (1995) 1.83

Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. J Med Genet (1996) 1.76

pVHL19 is a biologically active product of the von Hippel-Lindau gene arising from internal translation initiation. Proc Natl Acad Sci U S A (1998) 1.74

Mechanisms of morbid hearing loss associated with tumors of the endolymphatic sac in von Hippel-Lindau disease. JAMA (2007) 1.73

Somatic mutations of the von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastomas. Cancer Res (1994) 1.73

Iodine-131 metaiodobenzylguanidine for the locating of suspected pheochromocytoma: experience in 400 cases. J Nucl Med (1985) 1.72

Treatment of retinal capillary hemangioma. Ophthalmology (2002) 1.70

Clinical, genetic and radiographic analysis of 108 patients with von Hippel-Lindau disease (VHL) manifested by pancreatic neuroendocrine neoplasms (PNETs). Surgery (2007) 1.67

Genotype-phenotype correlations in von Hippel-Lindau disease. Hum Mutat (2007) 1.66

Endolymphatic sac tumors. A source of morbid hearing loss in von Hippel-Lindau disease. JAMA (1997) 1.63

A genetic register for von Hippel-Lindau disease. J Med Genet (1996) 1.61

Genetic analysis of von Hippel-Lindau disease. Hum Mutat (2010) 1.55

Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors. Am J Hum Genet (1997) 1.54

Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: relationship to clinicopathological parameters. Genes Chromosomes Cancer (2002) 1.52

The vestibular aqueduct: site of origin of endolymphatic sac tumors. J Neurosurg (2008) 1.49

Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma. J Urol (1999) 1.47

Loss of heterozygosity and somatic mutations of the VHL tumor suppressor gene in sporadic cerebellar hemangioblastomas. Cancer Res (1998) 1.46

Prevalence of microscopic lesions in grossly normal renal parenchyma from patients with von Hippel-Lindau disease, sporadic renal cell carcinoma and no renal disease: clinical implications. J Urol (1995) 1.44

Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect. Hum Genet (1995) 1.42

Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC. Hum Mutat (1999) 1.34

Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents. Am J Hum Genet (2000) 1.33

Von Hippel-Lindau syndrome. A pleomorphic condition. Cancer (1999) 1.33

Perianesthetic risks and outcomes of pheochromocytoma and paraganglioma resection. Anesth Analg (2000) 1.32

Transcription-dependent nuclear-cytoplasmic trafficking is required for the function of the von Hippel-Lindau tumor suppressor protein. Mol Cell Biol (1999) 1.30

CT and MR imaging of unusual locations of extra-adrenal paragangliomas (pheochromocytomas). Eur Radiol (2004) 1.29

Cerebellar haemangioblastoma and von Hippel-Lindau disease. Brain (1986) 1.29

The natural history of renal lesions in von Hippel-Lindau disease: a serial CT study in 28 patients. AJR Am J Roentgenol (1992) 1.27

Neurologic manifestations of von Hippel-Lindau disease. JAMA (2008) 1.26

Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. J Med Genet (1995) 1.26

Prevalence, morphology and biology of renal cell carcinoma in von Hippel-Lindau disease compared to sporadic renal cell carcinoma. J Urol (1998) 1.25

Renal cancer in von Hippel-Lindau disease and related syndromes. Nat Rev Nephrol (2013) 1.23

Central nervous system involvement in Von Hippel-Lindau disease. Neurology (1991) 1.23

Surgical management of spinal cord hemangioblastomas in patients with von Hippel-Lindau disease. J Neurosurg (2003) 1.23

Surgical management of brainstem hemangioblastomas in patients with von Hippel-Lindau disease. J Neurosurg (2003) 1.21

Pancreatic lesions in von Hippel-Lindau disease: prevalence, clinical significance, and CT findings. AJR Am J Roentgenol (1994) 1.21

Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma. J Med Genet (1990) 1.21

Life expectancy in hereditary cancer predisposing diseases: an observational study. J Med Genet (2012) 1.20

Endolymphatic sac tumors in von Hippel-Lindau disease. J Neurosurg (2004) 1.17

Prospective evaluation of radiosurgery for hemangioblastomas in von Hippel-Lindau disease. Neuro Oncol (2009) 1.17

Pancreatic lesions in von Hippel-Lindau disease? A systematic review and meta-synthesis of the literature. J Gastrointest Surg (2012) 1.17

Management of von Hippel-Lindau disease-associated CNS lesions. Expert Rev Neurother (2011) 1.16

Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL. Hum Mol Genet (1997) 1.15

Histopathology and molecular genetics of multiple cysts and microcystic (serous) adenomas of the pancreas in von Hippel-Lindau patients. Am J Pathol (2000) 1.15

Mutual antagonism between hypoxia-inducible factors 1α and 2α regulates oxygen sensing and cardio-respiratory homeostasis. Proc Natl Acad Sci U S A (2013) 1.14

Treatment of renal cell carcinoma in von Hippel-Lindau disease: a multicenter study. J Urol (1995) 1.13

Two sides to every story: the HIF-dependent and HIF-independent functions of pVHL. J Cell Mol Med (2011) 1.13

Tumors of the endolymphatic sac in patients with von Hippel-Lindau disease: implications for their natural history, diagnosis, and treatment. J Neurosurg (2005) 1.13

Evolution of VHL tumourigenesis in nerve root tissue. J Pathol (2006) 1.11

Clinical characterization of retinal capillary hemangioblastomas in a large population of patients with von Hippel-Lindau disease. Ophthalmology (2007) 1.10

Ruthenium-106 brachytherapy for peripheral retinal capillary hemangioma. Ophthalmology (1998) 1.09

An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects. Am J Hum Genet (1998) 1.07

Genotype-phenotype correlations in VHL exon deletions. Am J Med Genet A (2009) 1.06

Epididymal cystadenomas in von Hippel-Lindau disease. Urology (1997) 1.04

Natural history of supratentorial hemangioblastomas in von Hippel-Lindau disease. Neurosurgery (2010) 1.03

Infratentorial craniospinal irradiation for von Hippel-Lindau: a retrospective study supporting a new treatment for patients with CNS hemangioblastomas. Neuro Oncol (2011) 1.02

Surgical resection of endolymphatic sac tumors in von Hippel-Lindau disease: findings, results, and indications. Laryngoscope (2012) 0.98

Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease. Surgery (2000) 0.98

Intravitreal ranibizumab therapy for retinal capillary hemangioblastoma related to von Hippel-Lindau disease. Ophthalmology (2008) 0.98

Comparative sequence analysis of the VHL tumor suppressor gene. Genomics (2000) 0.97

Papillary cystadenoma of the mesosalpinx in von Hippel-Lindau disease. Am J Surg Pathol (1988) 0.96

Surveillance in von Hippel-Lindau disease (vHL). Clin Genet (2009) 0.96

Molecular genetic analysis of the von Hippel-Lindau disease tumor suppressor gene in familial and sporadic cerebellar hemangioblastomas. Am J Clin Pathol (1997) 0.95

Tumor derived vasculogenesis in von Hippel-Lindau disease-associated tumors. Sci Rep (2014) 0.95

Prospective natural history study of central nervous system hemangioblastomas in von Hippel-Lindau disease. J Neurosurg (2014) 0.94

Somatic mutations in VHL germline deletion kindred correlate with mild phenotype. Ann Neurol (2004) 0.94

Laparoscopic management of extra-adrenal pheochromocytoma. J Urol (2004) 0.93