J Castro-Teles, B Sousa-Pinto, S Rebelo… - Endocrine …, 2021 - ec.bioscientifica.com
Objective: Pheochromocytomas are a hallmark feature of von Hippel-Lindau disease (vHL). To our knowledge, this is the first systematic review with meta-analysis evaluating the …
K Launbjerg, I Bache, M Galanakis… - American Journal of …, 2017 - Wiley Online Library
The autosomal dominant von Hippel‐Lindau disease (vHL) is associated with a lifelong risk of tumor development, especially retinal and CNS hemangioblastomas, pheochromocytoma …
B Hong, K Ma, J Zhou, J Zhang, J Wang, S Liu… - Frontiers in …, 2019 - frontiersin.org
Von Hippel–Lindau (VHL) disease is a rare autosomal-dominant inherited tumor syndrome. We aimed to analyze the correlations between frequent VHL mutations and phenotypes in …
GFC Fagundes, J Petenuci… - Journal of the …, 2019 - academic.oup.com
Abstract Context Von Hippel-Lindau (VHL) disease is an autosomal dominant syndrome caused by germline mutations in the VHL gene. Guidelines recommend pheochromocytoma …
HQ Rana, DR Koeller, A Schwartz, DK Manning… - European Journal of …, 2021 - Elsevier
Abstract Von Hippel-Lindau (VHL) syndrome is a hereditary tumor syndrome associated with germline loss-of-function pathogenic variants (PVs) in the VHL gene. VHL is classically …
N Lomte, S Kumar, V Sarathi, R Pandit, M Goroshi… - Familial Cancer, 2018 - Springer
The data in genotype-phenotype correlation in Indian von Hippel–Lindau (VHL) patients is limited. We have retrospectively studied 31 genetically proven VHL patients with …
F Azimi, A Aghajani, G Khakpour… - Molecular Genetics and …, 2022 - Springer
Retinal capillary hemangioblastomas (RCH) is a benign tumor that represents the initial manifestation in roughly half of Von Hippel Lindau (VHL) patients. They may also occur …
D Leite Rocha, P Ashton-Prolla… - Expert Review of …, 2022 - Taylor & Francis
Introduction Hereditary cancer predisposition syndromes are caused by germline pathogenic or likely pathogenic variants in cancer predisposition genes (CPG). The majority …
A Dwivedi, A Moirangthem, H Pandey… - Egyptian Journal of …, 2022 - Springer
Abstract Background Von Hippel–Lindau (VHL) syndrome is a familial cancer syndrome caused by mutations in VHL gene. It is characterized by the formation of benign and …