Associated Papers
Intra- and inter-tumoural heterogeneity in von Hippel-Lindau disease-related renal cancer: a multimodal data study protocol.
Rowe I et al.
European Radiology Experimental, 2025
Computational analysis of protein-protein interactions of cancer drivers in renal cell carcinoma.
Pei J et al.
Febs Open Bio, 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
Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma.
Vasudev NS et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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
Molecular characterisation of sporadic endolymphatic sac tumours and comparison to von Hippel-Lindau disease-related tumours.
Schweizer L et al.
Neuropathology and Applied Neurobiology, 2021
Single nucleotide variants of succinate dehydrogenase A gene in renal cell carcinoma.
Kamai T et al.
Cancer Science, 2021
Spatially interacting phosphorylation sites and mutations in cancer.
Huang KL et al.
Nature Communications, 2021
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S et al.
Cell, 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
Genomic profiling of the genes on chromosome 3p in sporadic clear cell renal cell carcinoma.
Togo Y et al.
International Journal of Oncology, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Gender Specific Mutation Incidence and Survival Associations in Clear Cell Renal Cell Carcinoma (CCRCC).
Ricketts CJ et al.
Plos One, 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
Mutational landscape and significance across 12 major cancer types.
Kandoth C et al.
Nature, 2013
Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.
Dalgliesh GL et al.
Nature, 2010
Mutations and polymorphisms in the SDHB, SDHD, VHL, and RET genes in sporadic and familial pheochromocytomas.
Waldmann J et al.
Endocrine, 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
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.
Gallou C et al.
Human Mutation, 2004
[Von Hippel-Lindau disease: a hereditary disease that impacts multiple tissues].
Richard S et al.
Presse Medicale (paris, France : 1983), 1998
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
Stolle C et al.
Human Mutation, 1998
Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.
Olschwang S et al.
Human Mutation, 1998
Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.
Prowse AH et al.
American Journal of Human Genetics, 1997
Endolymphatic Sac Tumor in von Hippel-Lindau Disease: A Rare Case Report.
Biswas R et al.
Journal of Pediatric Neurosciences, 0
Risk Analysis of Retinal Hemangioblastomas in Nonadvanced Stages of von Hippel-Lindau Syndrome Using Ultra-widefield Imaging: The ULTRA von Hippel-Lindau Study.
Del Fabbro S et al.
Ophthalmology Science, 0