Associated Papers
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
Family-based genetic analysis in schizophrenia by whole-exome sequence to identify rare pathogenic variants.
Shang B et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric 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
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
Serghini A et al.
Human Molecular Genetics, 2024
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
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
APC:T1556fs and STK11 mutations in duodenal adenomas and adenocarcinomas.
Kojima Y et al.
Surgery Today, 2018
Von Hippel-Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.
Rednam SP et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.
Xiu J et al.
Oncotarget, 2016
VHL, the story of a tumour suppressor gene.
Gossage L et al.
Nature Reviews. Cancer, 2015
An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.
Gossage L et al.
Human Molecular Genetics, 2014
VHL and HIF-1α: gene variations and prognosis in early-stage clear cell renal cell carcinoma.
Lessi F et al.
Medical Oncology (northwood, London, England), 2014
Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry.
Percy MJ et al.
Blood, 2003