Associated Papers
Mechanisms of resistance to VHL loss-induced genetic and pharmacological vulnerabilities.
Ge J et al.
Embo Molecular Medicine, 2025
Detection of VHL variant on multigene panel testing for hereditary breast cancer: Implications for genetic counselling.
Ling JY et al.
Cancer Genetics, 2025
Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) Disease.
Ritter DI et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
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
Update on Surveillance in Von Hippel-Lindau Disease.
Rednam SP et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Prediction tools for assessing functional impacts of gene mutations in Clear Cell Renal Cell Carcinoma: A comparative study.
Yang CH et al.
Computers in Biology and Medicine, 2025
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
Von Hippel-Lindau Disease : A Comprehensive Review of Diagnosis, Genetics, Clinical Challenges, and Surveillance.
Jung NY et al.
Journal of Korean Neurosurgical Society, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
"Incidentally" discovered Von Hippel Lindau disease: an emerging clinical phenotype.
Trinh MN et al.
The Oncologist, 2025
[Familial erythrocytosis type 2 due to VHL germline mutations: a case report and literature review].
Liu NN et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2025
Genetic evidence for the suppressive role of zebrafish vhl targeting mavs in antiviral innate immunity during RNA virus infection.
Sun X et al.
Journal of Immunology (baltimore, Md. : 1950), 2025
von Hippel-Lindau syndrome-related congenital polycythemia and response to belzutifan.
Siqueira Do Amaral P et al.
Haematologica, 2024
Total loss of VHL gene function impairs neuroendocrine cancer cell fitness due to excessive HIF2α activity.
Abu-Remaileh M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL.
Suzuki Y et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2024
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
Inherited Germline Variants in Urinary Tract Cancer: A Multicenter Whole-Exome Sequencing Analysis and Correlation With Clinical Features and Tumor Genomics.
Kohlmann W et al.
Jco Precision Oncology, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
Serghini A et al.
Human Molecular Genetics, 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
A Case of Von Hippel-Lindau Disease With Recurrence of Paraganglioma and No Other Associated Symptoms: The Importance of Genetic Testing and Establishing Follow-Up Policies.
Okada N et al.
Cureus, 2023
Clear cell mesotheliomas with inactivating VHL mutations and near-haploid genomic features.
Michal M et al.
Genes, Chromosomes & Cancer, 2023
Developing a disease-specific annotation protocol for VHL gene curation using Hypothes.is.
Salehipour D et al.
Database : the Journal of Biological Databases and Curation, 2023
The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.
Yang Y et al.
Bmc Urology, 2022
Mutation of the proline P81 into a serine modifies the tumour suppressor function of the von Hippel-Lindau gene in the ccRCC.
Chesnel F et al.
British Journal of Cancer, 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
Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.
Savatt JM et al.
Bmc Medicine, 2022
Impaired oxygen-sensitive regulation of mitochondrial biogenesis within the von Hippel-Lindau syndrome.
Li S et al.
Nature Metabolism, 2022
Erythrocytosis associated with EPAS1(HIF2A), EGLN1(PHD2), VHL, EPOR or BPGM mutations: The Mayo Clinic experience.
Gangat N et al.
Haematologica, 2022
VHL-P138R and VHL-L163R Novel Variants: Mechanisms of VHL Pathogenicity Involving HIF-Dependent and HIF-Independent Actions.
Mathó C et al.
Frontiers in Endocrinology, 2022
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
Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results.
Rana HQ et al.
European Journal of Medical Genetics, 2021
Erythrocytosis: genes and pathways involved in disease development.
Gašperšič J et al.
Blood Transfusion = Trasfusione Del Sangue, 2021
Corrigendum: Contrasting effects on HIF-1α regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease.
Clifford SC et al.
Human Molecular Genetics, 2021
GIPC2 is an endocrine-specific tumor suppressor gene for both sporadic and hereditary tumors of RET- and SDHB-, but not VHL-associated clusters of pheochromocytoma/paraganglioma.
Dong Y et al.
Cell Death & Disease, 2021
Molecular Profile of Advanced Cutaneous Squamous Cell Carcinoma.
Jones J et al.
The Journal of Clinical and Aesthetic Dermatology, 2021
rs779805 Von Hippel-Lindau Gene Polymorphism Induced/Related Polycythemia Entity, Clinical Features, Cancer Association, and Familiar Characteristics.
Remenyi G et al.
Pathology Oncology Research : Por, 2021
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020