Associated Papers
Prognostic significance of circulating tumor DNA alterations in advanced renal cell carcinoma from SCRUM-Japan MONSTAR-SCREEN: a nationwide genomic profiling project.
Kato T et al.
British Journal of Cancer, 2025
Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.
Cotto KC et al.
Nature Communications, 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
Retinal Glial Cells in Von Hippel-Lindau Disease: A Novel Approach in the Pathophysiology of Retinal Hemangioblastoma.
Pilotto E et al.
Cancers, 2021
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
The incidence of consecutive manifestations in Von Hippel-Lindau disease.
van der Horst-Schrivers ANA et al.
Familial Cancer, 2019
Mutated Von Hippel-Lindau-renal cell carcinoma (RCC) promotes patients specific natural killer (NK) cytotoxicity.
Trotta AM et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2018
Difference in CXCR4 expression between sporadic and VHL-related hemangioblastoma.
Kruizinga RC et al.
Familial Cancer, 2016
Potential value of EUS in pancreatic surveillance of VHL patients.
van Asselt SJ et al.
European Journal of Endocrinology, 2016
VHL gene alterations in Italian patients with isolated renal cell carcinomas.
Muscarella LA et al.
The International Journal of Biological Markers, 2013
Absence of VHL gene alteration and high VEGF expression are associated with tumour aggressiveness and poor survival of renal-cell carcinoma.
Patard JJ et al.
British Journal of Cancer, 2009
Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma.
Charbotel B et al.
Journal of Occupational Medicine and Toxicology (london, England), 2007
Mutations in the von hippel-lindau tumour suppressor gene in central nervous system hemangioblastomas.
Cybulski C et al.
Hereditary Cancer in Clinical Practice, 2004
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