Associated Papers
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
Mosaic Form of von Hippel-Lindau Syndrome: Case Report and Literature Review.
Mikhaylenko DS et al.
International Journal of Molecular Sciences, 2025
A Comprehensive Target Panel Allows to Extend the Genetic Spectrum of Neuroendocrine Tumors.
Tsoy UA et al.
Neuroendocrinology, 2025
Retroperitoneal paraganglioma with loss of heterozygosity of the von Hippel-Lindau gene: a case report and review of the literature.
Anno M et al.
Endocrine Journal, 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
VHL mosaicism: the added value of multi-tissue analysis.
Oldfield LE et al.
Npj Genomic Medicine, 2022
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
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
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
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
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Shankar GM et al.
Acta Neuropathologica Communications, 2014
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
Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease.
Wittström E et al.
Ophthalmic Genetics, 2014
Genetic analyses of apparently sporadic pheochromocytomas: the Rotterdam experience.
Korpershoek E et al.
Annals of the New York Academy of Sciences, 2006
Von Hippel-Lindau gene alterations in sporadic benign and malignant pheochromocytomas.
Dannenberg H et al.
International Journal of Cancer, 2003