Associated Papers
Utility of Next-Generation Sequencing in Renal Neoplasia, Including Tumors With Clear Cytoplasm and Rare Phenotypes (ELOC/MITF Alterations and Mismatch Repair Deficiency).
McCarthy M et al.
Mayo Clinic Proceedings, 2026
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
40202835 (PubMed )
Supplement: supplementary_materials.pdf
Fibroblast growth factor receptor expression in hemangioblastomas: A novel therapeutic target.
Puttonen M et al.
Plos One, 2025
40393028 (PubMed )
Supplement: pone.0323979.s002.pdf
Retroperitoneal paraganglioma with loss of heterozygosity of the von Hippel-Lindau gene: a case report and review of the literature.
Anno M et al.
Endocrine Journal, 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
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › VHL
Risk prediction for metastasis of clear cell renal cell carcinoma using digital multiplex ligation-dependent probe amplification.
Yoshikawa Y et al.
Cancer Science, 2022
34687579 (PubMed )
Supplement: CAS-113-297-s001.xlsx › Table_S3
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
Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia.
Gupta S et al.
Jama Network Open, 2021
Clinical Features and Multiplatform Molecular Analysis Assist in Understanding Patient Response to Anti-PD-1/PD-L1 in Renal Cell Carcinoma.
Shiuan E et al.
Cancers, 2021
33806963 (PubMed )
Supplement: cancers-13-01475-s001.zip › 031421_Supplemental_Data_Tables_S6-10.xlsx › Variants
Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance.
Razafinjatovo C et al.
Bmc Cancer, 2016
27530247 (PubMed )
Supplement: 12885_2016_2688_MOESM3_ESM.xlsx › Sheet1
Genomic profiling of the genes on chromosome 3p in sporadic clear cell renal cell carcinoma.
Togo Y et al.
International Journal of Oncology, 2016
Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma.
Losonczy G et al.
Bmc Medical Genetics, 2013
Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours.
Srirangalingam U et al.
Endocrine-related Cancer, 2009
Genotype-phenotype correlations in von Hippel-Lindau disease.
Neumann HP et al.
Journal of Internal Medicine, 1998
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
Stolle C et al.
Human Mutation, 1998
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