The genetic differences between types 1 and 2 in von Hippel-Lindau syndrome: comprehensive meta-analysis

F Azimi, M Naseripour, A Aghajani, H Kasraei… - BMC …, 2024 - Springer
Abstract Background Patients with von Hippel-Lindau (VHL) disease are at risk of
developing tumors in the eye, brain, kidney, adrenal gland, and other organs based on their …

Pheochromocytomas and paragangliomas in von Hippel–Lindau disease: not a needle in a haystack

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 …

von Hippel‐Lindau development in children and adolescents

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 …

Frequent mutations of VHL gene and the clinical phenotypes in the largest Chinese cohort with von Hippel–Lindau disease

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 …

New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations

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 …

Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: an integrated evaluation of germline and somatic genomic results

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 …

Genotype phenotype correlation in Asian Indian von Hippel–Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma

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 …

A meta-analysis of different von Hippel Lindau mutations: are they related to retinal capillary hemangioblastoma?

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 …

Reviewing the occurrence of large genomic rearrangements in patients with inherited cancer predisposing syndromes: importance of a comprehensive molecular …

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 …

Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting

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 …