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
Advancing the Landscape of Clinical Actionability in Von Hippel-Lindau Syndrome: An Evidence-Based Framework from the INT2GRATE Oncology Consortium.
Koeller DR et al.
Cancers, 2025
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics.
Gómez-Virgilio L et al.
Diagnostics (basel, Switzerland), 2024
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.
Buckley M et al.
Nature Genetics, 2024
Exploring the anticancer potential of hydrogen sulfide and BAY‑876 on clear cell renal cell carcinoma cells: Uncovering novel mutations in VHL and KDR genes among ccRCC patients.
Hamadamin PS et al.
Molecular and Clinical Oncology, 2024
Surveillance in Children and Adolescents with von Hippel-Lindau (VHL)-Related Pheochromocytomas and Paragangliomas: A Survey of MET and Freiburg-VHL Registries in Germany.
Kotsis F et al.
Journal of Kidney Cancer and Vhl, 2024
ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.
Zhou Y et al.
Science Advances, 2023
Preliminary Study of Whole-Genome Bisulfite Sequencing and Transcriptome Sequencing in VHL Disease-Associated ccRCC.
Li L et al.
Molecular Diagnosis & Therapy, 2023
Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases.
Nigro E et al.
Genes, 2023
Variant spectrum of von Hippel-Lindau disease and its genomic heterogeneity in Japan.
Tamura K et al.
Human Molecular Genetics, 2023
Clear cell mesotheliomas with inactivating VHL mutations and near-haploid genomic features.
Michal M et al.
Genes, Chromosomes & Cancer, 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
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
EglN3 hydroxylase stabilizes BIM-EL linking VHL type 2C mutations to pheochromocytoma pathogenesis and chemotherapy resistance.
Li S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Differential Expression of PD-L1 Between Sporadic and VHL-Associated Hereditary Clear-Cell Renal Cell Carcinoma and Its Correlation With Clinicopathological Features.
Hong B et al.
Clinical Genitourinary Cancer, 2019
von Hippel-Lindau development in children and adolescents.
Launbjerg K et al.
American Journal of Medical Genetics. Part A, 2017
Sunitinib for the treatment of benign and malignant neoplasms from von Hippel-Lindau disease: A single-arm, prospective phase II clinical study from the PREDIR group.
Oudard S et al.
Oncotarget, 2016
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
Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease.
Zhang J et al.
Chinese Medical Journal, 2015
Gender Specific Mutation Incidence and Survival Associations in Clear Cell Renal Cell Carcinoma (CCRCC).
Ricketts CJ et al.
Plos One, 2015
Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.
Hwang S et al.
Journal of Human Genetics, 2014
Higher prevalence of novel mutations in VHL gene in Chinese Von Hippel-Lindau disease patients.
Wang X et al.
Urology, 2014
VHL gene alterations in Italian patients with isolated renal cell carcinomas.
Muscarella LA et al.
The International Journal of Biological Markers, 2013
Combined mutation of Vhl and Trp53 causes renal cysts and tumours in mice.
Albers J et al.
Embo Molecular Medicine, 2013
Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients.
Wu P et al.
Journal of Human Genetics, 2012
VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations.
Rechsteiner MP et al.
Cancer Research, 2011
Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation.
Gomy I et al.
Familial Cancer, 2010
Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis.
Cho HJ et al.
Journal of Korean Medical Science, 2009
Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features.
Corcos O et al.
Pancreas, 2008
[Germ line mutations in Chinese kindreds with von Hippel-Lindau syndrome].
Zhang J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007
[Analysis of two single nucleotide polymorphisms in von Hippel-Lindau gene and detection of loss of heterozygosity in Chinese sporadic renal cell carcinoma].
Liu N et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.
Gallou C et al.
Human Mutation, 2004
Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: relationship to clinicopathological parameters.
Kondo K et al.
Genes, Chromosomes & Cancer, 2002
[Neuro-endocrine tumors and von Hippel-Lindau disease. 3 cases].
Aubert-Petit G et al.
Presse Medicale (paris, France : 1983), 1999
Genotype-phenotype correlations in von Hippel-Lindau disease.
Neumann HP et al.
Journal of Internal Medicine, 1998
[Von Hippel-Lindau disease: recent genetic progress and patient management. Francophone Study Group of von Hippel-Lindau Disease (GEFVH)].
Richard S et al.
Annales D'endocrinologie, 1998
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
Stolle C et al.
Human Mutation, 1998
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.
Zbar B et al.
Human Mutation, 1996