The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Clinical Features and Natural History of von Hippel-Lindau Disease
Abstract
The clinical features, age at onset and survival of 152 patients with von Hippel-Lindau disease were studied. Mean age at onset was 26.3 years and 97 per cent of patients had presented by aged 60 years. Retinal angioma was the first manifestation in 65 patients (43 per cent), followed by cerebellar haemangioblastoma (n = 60, 39 per cent) and renal cell carcinoma (n = 15, 10 per cent). Overall, 89 patients (59 per cent) developed a cerebellar haemangioblastoma, 89 (59 per cent) a retinal angioma, 43 (28 per cent) renal cell carcinoma, 20 (13 per cent) spinal haemangioblastoma and 11 (7 per cent) a phaeochromocytoma. Renal, pancreatic and epididymal cysts were frequent findings but their exact incidence was not accurately assessed. Mean age at diagnosis of renal cell carcinoma (44.0 +/- 10.9 years) was significantly older than that for cerebellar haemangioblastoma (29.0 +/- 10.0 years) and retinal angioma (25.4 +/- 12.7 years). The probability of a patient with von Hippel-Lindan disease developing a cerebellar haemangioblastoma, retinal angioma or renal cell carcinoma by age 60 years was 0.84, 0.7 and 0.69, respectively. A comprehensive screening protocol for affected patients and at-risk relatives is presented, based on detailed analysis of age at onset data for each of the major complications. Median actuarial survival was 49 years, with renal cell carcinoma the leading cause of death.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Peto, R., Pike, M. C., Armitage, P., Breslow, N. E., Cox, D. R., Howard, S. V., Mantel, N., McPherson, K., Peto, J., & Smith, P. G. (1977) · British Journal of Cancer · doi:10.1038/bjc.1977.1 · Cited by 8,285
Von Hippel–Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma
Seizinger, B. R., Rouleau, G. A., Ozelius, L. J., Lane, A. H., Farmer, G. E., Lamiell, J. M., Haines, J., Yuen, J. W. M., Collins, D., Majoor-Krakauer, D., et al. (1988) · Nature · doi:10.1038/332268a0 · Cited by 662
Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
LAMIELL, J. M., SALAZAR, F. G., & HSIA, Y. E. (1989) · Medicine · doi:10.1097/00005792-198901000-00001 · Cited by 361
Über eine sehr seltene Erkrankung der Netzhaut: Klinische Beobachtungen
Hippel, E. (1904) · Albrecht von Græfe's Archiv für Ophthalmologie · doi:10.1007/bf01994821 · Cited by 293
Hippel-Lindau disease: MR imaging.
Sato, Y., Waziri, M., Smith, W., Frey, E., Yuh, W. T., Hanson, J., & Franken, E. A. (1988) · Radiology · doi:10.1148/radiology.166.1.3336687 · Cited by 166
Renal pathology in von Hippel-Lindau disease
Solomon, D., & Schwartz, A. M. (1988) · Human Pathology · doi:10.1016/s0046-8177(88)80089-3 · Cited by 134
Von Hippel-Lindau disease in a Newfoundland kindred.
Green, J. S., Bowmer, M. I., & Johnson, G. J. (1986) · PubMed · Cited by 74
Cited by
Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies
Köhler, S., Schulz, M. H., Krawitz, P., Bauer, S., Dölken, S., Ott, C. E., Mundlos, C., Horn, D., Mundlos, S., & Robinson, P. N. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.09.003 · Cited by 590
Maher, E. R., & Kaelin, W. G. (1997) · Medicine · doi:10.1097/00005792-199711000-00001 · Cited by 528
Self-citationClifford, S. C. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.10.1029 · Cited by 373
Kaelin, W. G. (2007) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev.pathol.2.010506.092049 · Cited by 336
A genetic register for von Hippel-Lindau disease.
Maddock, I. R., Moran, A., Maher, E. R., Teare, M. D., Norman, A., Payne, S. J., Whitehouse, R., Dodd, C., Lavin, M., Hartley, N., et al. (1996) · Journal of Medical Genetics · doi:10.1136/jmg.33.2.120 · Cited by 263
Self-citation
Metadata
- Authors
- MAHER, E. R., YATES, J. R. W., HARRIES, R., BENJAMIN, C., HARRIS, R., MOORE, A. T., & FERGUSON-SMITH, M. A.
- Venue
- QJM
- Publisher
- Oxford University Press (OUP)
- Published
- 1990-11-01
- Volume
- 77
- Issue
- 2
- Pages
- 1151-1163
- ISSN
- 0033-5622 (ISSN-L)
- 1460-2725
- 1460-2393
- OpenAlex
- W2090789862
- Cited by
- 937
- References
- 7
- FWCI
- 3.96
- Type
- journal article
- Language
- en
- Open access
- closed
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Clinical Features and Natural History of von Hippel-Lindau Disease. https://app.cochat.ai/papers/10.1093/qjmed/77.2.1151
- The paper
- MAHER, E. R., YATES, J. R. W., HARRIES, R., BENJAMIN, C., HARRIS, R., MOORE, A. T., & FERGUSON-SMITH, M. A. (1990). Clinical Features and Natural History of von Hippel-Lindau Disease. QJM. https://doi.org/10.1093/qjmed/77.2.1151
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
