ReviewJournal of endocrinological investigation2018
Von Hippel-Lindau disease: a single gene, several hereditary tumors.
Review in Journal of endocrinological investigation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
37 citing papers in PubMed, 92 citations in OpenAlex.
- Somatic mutational landscape in von Hippel-Lindau familial hemangioblastoma.Molecular oncology · 2026Article
- [A Family case of von Hippel-Lindau syndrome].Problemy endokrinologii · 2025Article
- Diagnosis and treatment of Von Hippel-Lindau syndrome: A case series.Experimental and therapeutic medicine · 2025Article
- Mathematical modeling and simulation of tumor-induced angiogenesis in retinal hemangioblastoma.PLoS computational biology · 2025Article
- HIF-1 and HIF-2 in cancer: structure, regulation, and therapeutic prospects.Cellular and molecular life sciences : CMLS · 2025Review
- Article
- Clinical benefits of laser therapy in von hippel-lindau syndrome: improved vision and reduced complications.American journal of cancer research · 2025Article
- Metabolomic landscape of renal cell carcinoma in von Hippel-Lindau syndrome in a Chinese cohort.iScience · 2024Article
- [Preclinical diagnostics of von Hippel-Lindau syndrome in a child].Problemy endokrinologii · 2024Article
- Robot-assisted sutureless partial nephrectomy for the treatment of fifteen bilateral renal masses in a patient with Von Hippel-Lindau syndrome: a case report from a high-volume robotic center.CEN case reports · 2023Article
- Potential Role of VHL, PTEN, and BAP1 Mutations in Renal Tumors.Journal of clinical medicine · 2023Article
- VHL Ser65 mutations enhance HIF2α signaling and promote epithelial-mesenchymal transition of renal cancer cells.Cell & bioscience · 2022Article
- Review
- Characterization of the pVHL Interactome in Human Testis Using High-Throughput Library Screening.Cancers · 2022Article
- Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype-phenotype correlation and gene therapy perspective.Cancer cell international · 2021Article
- Pheochromocytomas and paragangliomas in von Hippel-Lindau disease: not a needle in a haystack.Endocrine connections · 2021Review
- Clinical presentation, genotype-phenotype correlations, and outcome of pancreatic neuroendocrine tumors in Von Hippel-Lindau syndrome.Endocrine · 2021Article
- Synchronous Presentation of Rare Brain Tumors in Von Hippel-Lindau Syndrome.Diagnostics (Basel, Switzerland) · 2021Article
- MK-6482 as a potential treatment for von Hippel-Lindau disease-associated clear cell renal cell carcinoma.Expert opinion on investigational drugs · 2021Review
- Seven Novel Genes Related to Cell Proliferation and Migration of VHL-Mutated Pheochromocytoma.Frontiers in endocrinology · 2021Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
The Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder characterized by the predisposition for multiple tumors caused by germline mutations in the tumor suppressor gene VHL. This disease is associated with a high morbidity and mortality and presents a variable expression, with different phenotypes from family to family, affecting different organs during the lifetime. The main manifestations of VHL are hemangioblastomas of the central nervous system and retina, renal carcinomas and cysts, bilateral pheochromocytomas, cystic and solid tumors of the pancreas, cystadenomas of the epididymis, and endolymphatic sac tumors. The discovery of any of the syndrome components should raise suspicion of this disease and other stigmas must then be investigated. Due to the complexities associated with management of the various VHL manifestation, the diagnosis and the follow-up of this syndrome is a challenge in the clinical practice and a multidisciplinary approach is needed. The particular relevance to endocrinologists is the detection of pheochromocytomas in 35% and islet cell tumors in 17% of VHL patients, which can be associated with hypertension, hypoglycemia, cardiac arrhythmias, and carcinoid syndrome. The purpose of this review is to define the Von Hippel-Lindau syndrome addressing its clinical aspects and classification, the importance of genetic counseling and to propose a protocol for clinical follow-up.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.