Associated Papers
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
Adrenal adenoma in von Hippel-Lindau syndrome: A case report with review of literature.
Palui R et al.
Journal of Cancer Research and Therapeutics, 2019
Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease.
Wittström E et al.
Ophthalmic Genetics, 2014
Mitochondrial function and content in pheochromocytoma/paraganglioma of succinate dehydrogenase mutation carriers.
Rapizzi E et al.
Endocrine-related Cancer, 2012
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
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