Associated Papers
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
Exploring the anticancer potential of hydrogen sulfide and BAY‑876 on clear cell renal cell carcinoma cells: Uncovering novel mutations in VHL and KDR genes among ccRCC patients.
Hamadamin PS et al.
Molecular and Clinical Oncology, 2024
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
Serghini A et al.
Human Molecular Genetics, 2024
Surveillance in Children and Adolescents with von Hippel-Lindau (VHL)-Related Pheochromocytomas and Paragangliomas: A Survey of MET and Freiburg-VHL Registries in Germany.
Kotsis F et al.
Journal of Kidney Cancer and Vhl, 2024
Idiopathic interstitial pneumonia in a patient with von Hippel-Lindau syndrome: a first case.
Morlacchi LC et al.
Erj Open Research, 2023
Variant spectrum of von Hippel-Lindau disease and its genomic heterogeneity in Japan.
Tamura K et al.
Human Molecular Genetics, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Mutation of the proline P81 into a serine modifies the tumour suppressor function of the von Hippel-Lindau gene in the ccRCC.
Chesnel F et al.
British Journal of Cancer, 2022
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
Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype-phenotype correlation and gene therapy perspective.
Tong D et al.
Cancer Cell International, 2021
Genotype-phenotype correlation in von Hippel-Lindau disease.
Reich M et al.
Acta Ophthalmologica, 2021
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
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
Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.
Ferrara AM et al.
Cancer Research and Treatment, 2016
Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.
Bausch B et al.
Head & Neck, 2016
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
Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma.
Taylor C et al.
International Journal of Oncology, 2012
Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma.
Young AC et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2009
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
Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients.
Castellano M et al.
Annals of the New York Academy of Sciences, 2006
Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations.
Ruiz-Llorente S et al.
Human Mutation, 2004
Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.
Gallou C et al.
Human Mutation, 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