Associated Papers
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
Prevalence of Germline Pathogenic Variants in Renal Cancer Predisposition Genes in a Population-Based Study of Renal Cell Carcinoma.
Bruinsma F et al.
Cancers, 2024
Screening and surveillance recommendations for central nervous system hemangioblastomas in pediatric patients with Von Hippel-Lindau disease.
Knoblauch AL et al.
Journal of Neuro-oncology, 2024
Variant spectrum of von Hippel-Lindau disease and its genomic heterogeneity in Japan.
Tamura K et al.
Human Molecular Genetics, 2023
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Risk prediction for metastasis of clear cell renal cell carcinoma using digital multiplex ligation-dependent probe amplification.
Yoshikawa Y et al.
Cancer Science, 2022
Retinal Glial Cells in Von Hippel-Lindau Disease: A Novel Approach in the Pathophysiology of Retinal Hemangioblastoma.
Pilotto E et al.
Cancers, 2021
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
Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.
Lang GT et al.
Nature Communications, 2020
Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors.
Krauss T et al.
Endocrine-related Cancer, 2018
Single-cell genetic analysis validates cytopathological identification of circulating cancer cells in patients with clear cell renal cell carcinoma.
Broncy L et al.
Oncotarget, 2018
Analyses of Potential Predictive Markers and Response to Targeted Therapy in Patients with Advanced Clear-cell Renal Cell Carcinoma.
Song Y et al.
Chinese Medical Journal, 2015
Molecular profiling of infiltrating urothelial carcinoma of bladder and nonbladder origin.
Millis SZ et al.
Clinical Genitourinary Cancer, 2015
Targeting HIF2α translation with Tempol in VHL-deficient clear cell renal cell carcinoma.
Sourbier C et al.
Oncotarget, 2012
Identification of 3 novel VHL germ-line mutations in Danish VHL patients.
Dandanell M et al.
Bmc Medical Genetics, 2012
Systematic comparison of sporadic and syndromic pancreatic islet cell tumors.
Erlic Z et al.
Endocrine-related Cancer, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.
Dalgliesh GL et al.
Nature, 2010
Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.
Hes FJ et al.
Clinical Genetics, 2007
MutationView/KMcancerDB: a database for cancer gene mutations.
Shimizu N et al.
Cancer Science, 2007
Association of GSTT1 non-null and NAT1 slow/rapid genotypes with von Hippel-Lindau tumour suppressor gene transversions in sporadic renal cell carcinoma.
Gallou C et al.
Pharmacogenetics, 2001
Reconsideration of biallelic inactivation of the VHL tumour suppressor gene in hemangioblastomas of the central nervous system.
Gläsker S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2001
DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations.
Klein B et al.
Human Genetics, 2001
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