Associated Papers
VHL Gene Restoration Supports RCC Reprogramming to iPSCs but Does Not Ensure Line Stability.
Lichner Z et al.
Cancers, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
The effect of oral belzutifan on retinal hemangioblastomas in von Hippel-Lindau syndrome.
Stephenson KAJ et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2025
Clinical relevance of the somatic mutational landscaping in predicting outcome of bladder cancer patients.
Nedjadi T et al.
Scientific Reports, 2025
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
Novel OCT Angiography Features, von Hippel-Lindau Disease Association, and Genetic Characterization of Juxtapapillary Retinal Capillary Hemangiomas.
Zhuang X et al.
Investigative Ophthalmology & Visual Science, 2025
Mosaic Form of von Hippel-Lindau Syndrome: Case Report and Literature Review.
Mikhaylenko DS et al.
International Journal of Molecular Sciences, 2025
Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.
Riviere-Cazaux C et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Fibroblast growth factor receptor expression in hemangioblastomas: A novel therapeutic target.
Puttonen M et al.
Plos One, 2025
Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics.
Gómez-Virgilio L et al.
Diagnostics (basel, Switzerland), 2024
Metabolomic landscape of renal cell carcinoma in von Hippel-Lindau syndrome in a Chinese cohort.
Zhang Z et al.
Iscience, 2024
Germline Testing Identifies Pathogenic/Likely Pathogenic Variants in Patients with Pancreatic Neuroendocrine Tumors.
Mohindroo C et al.
Cancer Prevention Research (philadelphia, Pa.), 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
Successful Treatment Response of a Juxtapapillary Retinal Capillary Hemangioblastoma Due to von Hippel-Lindau Syndrome with Belzutifan in a Pediatric Patient.
Mustafi D et al.
Retina (philadelphia, Pa.), 2024
Preliminary Study of Whole-Genome Bisulfite Sequencing and Transcriptome Sequencing in VHL Disease-Associated ccRCC.
Li L et al.
Molecular Diagnosis & Therapy, 2023
Protein Tyrosine Phosphatase Non-Receptor 11 (PTPN11/Shp2) as a Driver Oncogene and a Novel Therapeutic Target in Non-Small Cell Lung Cancer (NSCLC).
Richards CE et al.
International Journal of Molecular Sciences, 2023
Variant spectrum of von Hippel-Lindau disease and its genomic heterogeneity in Japan.
Tamura K et al.
Human Molecular Genetics, 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
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Villani A et al.
Nature Cancer, 2023
Novel and recurrent genetic variants of VHL, SDHB, and RET genes in Chinese pheochromocytoma and paraganglioma patients.
Li C et al.
Frontiers in Genetics, 2023
Clinical and Genetic Characteristics of Retinal Capillary Hemangioblastoma in Korean Patients.
Lee SH et al.
Korean Journal of Ophthalmology : Kjo, 2022
Contribution of Inherited Variants to Hereditary Cancer Syndrome Predisposition.
Güleç Ceylan G et al.
The Tohoku Journal of Experimental Medicine, 2022
Single-nuclei and bulk-tissue gene-expression analysis of pheochromocytoma and paraganglioma links disease subtypes with tumor microenvironment.
Zethoven M et al.
Nature Communications, 2022
Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients.
Zhang K et al.
Journal of Medical Genetics, 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
The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.
Hudler P et al.
Genes, 2022
Genomic profiles of Indonesian colorectal cancer patients.
Abdullah M et al.
F1000research, 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
Rational Development of Liquid Biopsy Analysis in Renal Cell Carcinoma.
Glennon KI et al.
Cancers, 2021
Clinical presentation, genotype-phenotype correlations, and outcome of pancreatic neuroendocrine tumors in Von Hippel-Lindau syndrome.
Penitenti F et al.
Endocrine, 2021
Complementary Role of Circulating Tumor DNA Assessment and Tissue Genomic Profiling in Metastatic Renal Cell Carcinoma.
Zengin ZB et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021
Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.
Akolkar D et al.
Plos One, 2021
Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma.
Yalcintepe S et al.
Journal of Kidney Cancer and Vhl, 2021
Outcome and genetic analysis of patients affected by retinal capillary hemangioblastoma in von Hippel Lindau syndrome.
Murro V et al.
Molecular Vision, 2021
Anorexia as the first clinical manifestation of von Hippel-Lindau syndrome.
Marques JH et al.
Molecular and Clinical Oncology, 2020
A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.
Kang T et al.
Breast Cancer Research : Bcr, 2020