ArticleHereditary cancer in clinical practice2005
Von hippel-lindau disease.
Article in Hereditary cancer in clinical practice, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed, 32 citations in OpenAlex.
- Genetics and current research models of Mendelian tumor predisposition syndromes with ocular involvement.Progress in retinal and eye research · 2025Review
- Article
- The Current State of the Diagnoses and Treatments for Clear Cell Renal Cell Carcinoma.Cancers · 2024Review
- MicroRNA-135b-5p Is a Pathologic Biomarker in the Endothelial Cells of Arteriovenous Malformations.International journal of molecular sciences · 2024Article
- Prevalence of Neurological Symptoms and Imaging Findings in Von Hippel-Lindau Patients Referred to Rasool Akram Hospital, 2018-2021.Journal of kidney cancer and VHL · 2024Article
- Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.Human mutation · 2022Article
- Evaluation, diagnosis and surveillance of renal masses in the setting of VHL disease.World journal of urology · 2021Review
- Von Hippel-Lindau syndrome and renal tumours: radiological diagnostic and treatment options. A case report and literature review.Acta medica Lituanic · 2020Article
- Von Hippel-Lindau disease: a single gene, several hereditary tumors.Journal of endocrinological investigation · 2018Review
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A germline mutation in the Von-Hippel Lindau (VHL) gene predisposes carriers to development of abundantly vascularised tumours in the retina, cerebellum, spine, kidney, adrenal gland and pancreas. Most VHL patients die from the consequences of cerebellar haemangioblastoma or renal cell carcinoma. The VHL gene is a tumour suppressor gene and is involved in angiogenesis by regulation of the activity of hypoxia-inducible factor 1-alpha (HIF1-alpha). Clinical diagnosis of VHL can be confirmed by molecular genetic analysis of the VHL gene, which is informative in virtually all VHL families. A patient with (suspicion for) VHL is an indication for genetic counselling and periodical examination.
Identifiers
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Registered trials
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.