Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics.
Gómez-Virgilio L et al.
Diagnostics (basel, Switzerland), 2024
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.
Buckley M et al.
Nature Genetics, 2024
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
Serghini A et al.
Human Molecular Genetics, 2024
Retinal Glial Cells in Von Hippel-Lindau Disease: A Novel Approach in the Pathophysiology of Retinal Hemangioblastoma.
Pilotto E et al.
Cancers, 2021
Clinically Advanced Pheochromocytomas and Paragangliomas: A Comprehensive Genomic Profiling Study.
Bratslavsky G et al.
Cancers, 2021
Genotype-phenotype relations of the von Hippel-Lindau tumor suppressor inferred from a large-scale analysis of disease mutations and interactors.
Minervini G et al.
Plos Computational Biology, 2019
Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors.
Krauss T et al.
Endocrine-related Cancer, 2018
Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.
Hoekstra AS et al.
Oncotarget, 2017
Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors.
Hoekstra AS et al.
Oncotarget, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.
Gossage L et al.
Human Molecular Genetics, 2014
VHL gene alterations in Italian patients with isolated renal cell carcinomas.
Muscarella LA et al.
The International Journal of Biological Markers, 2013
Genetic analysis of von Hippel-Lindau disease.
Nordstrom-O'Brien M et al.
Human Mutation, 2010
Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene.
Rajasekaran R et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2008
The N131S mutation in the von Hippel-Lindau gene in a Japanese family with pheochromocytoma and hemangioblastomas.
Imanaka M et al.
Endocrine Journal, 2006
[Von Hippel-Lindau disease].
Takahashi K et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006
Bayesian approach to discovering pathogenic SNPs in conserved protein domains.
Cai Z et al.
Human Mutation, 2004
DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations.
Klein B et al.
Human Genetics, 2001
von Hippel-Lindau disease: genetic and clinical observations.
Iliopoulos O
Frontiers of Hormone Research, 2001
Somatic mosaicism in von Hippel-Lindau Disease.
Murgia A et al.
Human Mutation, 2000
The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.
Gläsker S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 1999
Synthetic peptides define critical contacts between elongin C, elongin B, and the von Hippel-Lindau protein.
Ohh M et al.
The Journal of Clinical Investigation, 1999
Genotype-phenotype correlations in von Hippel-Lindau disease.
Neumann HP et al.
Journal of Internal Medicine, 1998
Germline mutations in the von Hippel-Lindau gene in Italian patients.
Ciotti P et al.
European Journal of Medical Genetics, 0