Associated Papers
Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicing.
Karaghiannis V et al.
American Journal of Human Genetics, 2025
Novel Case of Bilateral Adrenal Tumors Confirms Pathogenicity of Previously Described c.463+4C>G Variant in the von-Hippel Lindau Gene.
Morriss S et al.
Journal of Kidney Cancer and Vhl, 2025
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.
Buckley M et al.
Nature Genetics, 2024
The Many Roads from Alternative Splicing to Cancer: Molecular Mechanisms Involving Driver Genes.
Gimeno-Valiente F et al.
Cancers, 2024
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
Variant spectrum of von Hippel-Lindau disease and its genomic heterogeneity in Japan.
Tamura K et al.
Human Molecular Genetics, 2023
Case Report: Aggressive neural crest tumors in a child with familial von Hippel Lindau syndrome associated with a germline VHL mutation (c.414A>G) and a novel KIF1B gene mutation.
Landen L et al.
Frontiers in Endocrinology, 2023
Childhood pheochromocytoma crisis complicated with brain stem infarction: A case report.
Xie F et al.
Medicine, 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
Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.
Ma X et al.
Frontiers in Endocrinology, 2022
Insights into Mechanisms of Pheochromocytomas and Paragangliomas Driven by Known or New Genetic Drivers.
Flores SK et al.
Cancers, 2021
Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma.
Yonamine M et al.
Cancers, 2021
Case report: a synonymous VHL mutation (c.414A > G, p.Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing.
Liu F et al.
Bmc Medical Genetics, 2020
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study.
Ma X et al.
Frontiers in Endocrinology, 2020
Synonymous but Not Silent: A Synonymous VHL Variant in Exon 2 Confers Susceptibility to Familial Pheochromocytoma and von Hippel-Lindau Disease.
Flores SK et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Lenglet M et al.
Blood, 2018