The DOI matches its Crossref record.
Von Hippel-Lindau disease: a genetic study.
Open accessAbstract
Genetic aspects of von Hippel-Lindau (VHL) disease were studied in familial and isolated cases. Complex segregation analysis with pointers was performed in 38 kindreds with two or more affected members. Dominant inheritance with almost complete penetrance in the highest age classes (0.96 at 51 to 60 and 0.99 at 61 to 70 years) was confirmed and there was no evidence of heterogeneity between families ascertained through complete and incomplete selection. The point prevalence of heterozygotes in East Anglia was 1.89/100,000 (1/53,000) persons with an estimated birth incidence of 2.73/100,000 (1/36,000) live births. Reproductive fitness was 0.83. Direct and indirect estimates of the mutation rate were 4.4 (95% CI 0.9 to 7.9) x 10(-6)/gene/generation and 2.32 x 10(-6)/gene/generation respectively. There was no significant association between parental age or birth order and new mutations for VHL disease.
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
Cited by
Mutations of the VHL tumour suppressor gene in renal carcinoma
Gnarra, J. R., Tory, K., Weng, Y., Schmidt, L., Wei, M. H., Li, H., Latif, F., Liu, S., Chen, F., Duh, F.-M., et al. (1994) · Nature Genetics · doi:10.1038/ng0594-85 · Cited by 1,730
Evans, D. G., Howard, E., Giblin, C., Clancy, T., Spencer, H., Huson, S. M., & Lalloo, F. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33139 · Cited by 988
The RET Proto-Oncogene in Multiple Endocrine Neoplasia Type 2 and Hirschsprung's Disease
Eng, C. (1996) · New England Journal of Medicine · doi:10.1056/nejm199609263351307 · Cited by 328
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-citationPheochromocytoma: The expanding genetic differential diagnosis.
Bryant, J., Farmer, J., Kessler, L. J., Townsend, R. R., & Nathanson, K. L. (2003) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djg024 · Cited by 250
Metadata
- Authors
- Maher, E. R., Iselius, L., Yates, J. R., Littler, M., Benjamin, C., Harris, R., Sampson, J., Williams, A., Ferguson-Smith, M. A., & Morton, N.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 1991-07
- Volume
- 28
- Issue
- 7
- Pages
- 443-447
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2112064177
- Cited by
- 595
- References
- 0
- FWCI
- 3.87
- Type
- journal article
- Language
- en
- Open access
- green
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: Von Hippel-Lindau disease: a genetic study. https://app.cochat.ai/papers/10.1136/jmg.28.7.443
- The paper
- Maher, E. R., Iselius, L., Yates, J. R., Littler, M., Benjamin, C., Harris, R., Sampson, J., Williams, A., Ferguson-Smith, M. A., & Morton, N. (1991). Von Hippel-Lindau disease: a genetic study. Journal of Medical Genetics. https://doi.org/10.1136/jmg.28.7.443
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.
