Associated Papers
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
40202835 (PubMed )
Supplement: supplementary_materials.pdf
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
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
33151962 (PubMed )
Supplement: pone.0234100.s006.xlsx › Missense_Mutations_Weighted
Genotype-phenotype relations of the von Hippel-Lindau tumor suppressor inferred from a large-scale analysis of disease mutations and interactors.
Minervini G et al.
Plos Computational Biology, 2019
30943211 (PubMed )
Supplement: pcbi.1006478.s001.xlsx › AlignGVGD
Genotype phenotype correlation in Asian Indian von Hippel-Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma.
Lomte N et al.
Familial Cancer, 2018
Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.
Pandit R et al.
European Journal of Endocrinology, 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
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
von Hippel-Lindau gene mutation in non-syndromic familial pheochromocytomas.
Tong AL et al.
Annals of the New York Academy of Sciences, 2006
ISOLATED PARAGANGLIOMA IN A PATIENT WITH VHL P.L163F MUTATION.
Goldstein M et al.
Aace Clinical Case Reports, 0
Select a paper to view details