Associated Papers
Pediatric and adolescent von Hippel-Lindau disease: tumor profiles, genotype-phenotype correlation and comparison with adults.
Sharma A et al.
Journal of Endocrinological Investigation, 2025
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
A Comprehensive Target Panel Allows to Extend the Genetic Spectrum of Neuroendocrine Tumors.
Tsoy UA et al.
Neuroendocrinology, 2025
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
Serghini A et al.
Human Molecular Genetics, 2024
Proteostasis Modulation in Germline Missense von Hippel Lindau Disease.
Chittiboina P et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.
Chiorean A et al.
Human Mutation, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
VHL-P138R and VHL-L163R Novel Variants: Mechanisms of VHL Pathogenicity Involving HIF-Dependent and HIF-Independent Actions.
Mathó C et al.
Frontiers in Endocrinology, 2022
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations.
Fagundes GFC et al.
Journal of the Endocrine Society, 2019
Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy.
Neumann HPH et al.
Jama Network Open, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
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
E2-EPF UCP regulates stability and functions of missense mutant pVHL via ubiquitin mediated proteolysis.
Park KS et al.
Bmc Cancer, 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
The adrenal medulla and extra-adrenal paraganglia: then and now.
Tischler AS et al.
Endocrine Pathology, 2014
Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R.
Sovinz P et al.
American Journal of Medical Genetics. Part A, 2010
Zebrafish mutants in the von Hippel-Lindau tumor suppressor display a hypoxic response and recapitulate key aspects of Chuvash polycythemia.
van Rooijen E et al.
Blood, 2009
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
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 disease (VHL) gene in families from North America, Europe, and Japan.
Zbar B et al.
Human Mutation, 1996