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
Screening and surveillance recommendations for central nervous system hemangioblastomas in pediatric patients with Von Hippel-Lindau disease.
Knoblauch AL et al.
Journal of Neuro-oncology, 2024
38647646 (PubMed )
Supplement: 11060_2024_4676_MOESM1_ESM.pdf
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
Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy.
Neumann HPH et al.
Jama Network Open, 2019
31397861 (PubMed )
Supplement: jamanetwopen-2-e198898-s001.pdf
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
Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors.
Krauss T et al.
Endocrine-related Cancer, 2018
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
24969085 (PubMed )
Supplement: supp_ddu321_ddu321supp_table.xlsx › Supplementary_Table_2A
Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease.
Wittström E et al.
Ophthalmic Genetics, 2014
Systematic comparison of sporadic and syndromic pancreatic islet cell tumors.
Erlic Z et al.
Endocrine-related Cancer, 2010
Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene.
Rajasekaran R et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2008
Uncommon clinical presentations of pheochromocytoma and paraganglioma in two different patients affected by two distinct novel VHL germline mutations.
Ercolino T et al.
Clinical Endocrinology, 2008
Select a paper to view details