The DOI matches its Crossref record; 40 of the 40 references it cites were found in a registry or an index.
NF1 Gene and Neurofibromatosis 1
Abstract
Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant condition caused by mutations of the NF1 gene, which is located at chromosome 17q11.2. NF1 is believed to be completely penetrant, but substantial variability in expression of features occurs. Diagnosis of NF1 is based on established clinical criteria. The presentation of many of the clinical features is age dependent. The average life expectancy of patients with NF1 is probably reduced by 10-15 years, and malignancy is the most common cause of death. The prevalence of clinically diagnosed NF1 ranges from 1/2,000 to 1/5,000 in most population-based studies. A wide variety of NF1 mutations has been found in patients with NF1, but no frequently recurring mutation has been identified. Most studies have not found an obvious relation between particular NF1 mutations and the resulting clinical manifestations. The variability of the NF1 phenotype, even in individuals with the same NF1 gene mutation, suggests that other factors are involved in determining the clinical manifestations, but the nature of these factors has not yet been determined. Laboratory testing for NF1 mutations is difficult. A protein truncation test is commercially available, but its sensitivity, specificity, and predictive value have not been established. No general, population-based molecular studies of NF1 mutations have been performed. At this time, it appears that the benefits of population-based screening for clinical features of NF1 would not outweigh the costs of screening.
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Cites
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Cited by
Else, T., Kim, A. C., Sabolch, A., Raymond, V. M., Kandathil, A., Caoili, E. M., Jolly, S., Miller, B. S., Giordano, T. J., & Hammer, G. D. (2014) · Endocrine Reviews · doi:10.1210/er.2013-1029 · Cited by 892
Miettinen, M., Fetsch, J. F., Sobin, L. H., & Lasota, J. (2006) · The American Journal of Surgical Pathology · doi:10.1097/01.pas.0000176433.81079.bd · Cited by 507
Guillamo, J.-S., Creange, A., Kalifa, C., Grill, J., Rodriguez, D., Doz, F., Barbarot, S., Zerah, M., Sanson, M., Bastuji-Garin, S., et al. (2003) · Brain · doi:10.1093/brain/awg016 · Cited by 295
McConnell, M. J., Moran, J. V., Abyzov, A., Akbarian, S., Bae, T., Cortes-Ciriano, I., Erwin, J. A., Fasching, L., Flasch, D. A., Freed, D., et al. (2017) · Science · doi:10.1126/science.aal1641 · Cited by 262
Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas
Tucker, T., Friedman, J. M., Friedrich, R. E., Wenzel, R., Fünsterer, C., & Mautner, V.-F. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.061051 · Cited by 122
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Metadata
- Authors
- Rasmussen, S. A., & Friedman, J. M.
- Venue
- American Journal of Epidemiology
- Publisher
- Oxford University Press (OUP)
- Published
- 2000-01-01
- Volume
- 151
- Issue
- 1
- Pages
- 33-40
- ISSN
- 0002-9262 (ISSN-L)
- 1476-6256
- OpenAlex
- W2111227250
- Cited by
- 401
- References
- 40
- FWCI
- 7.90
- Type
- journal article
- Language
- en
- Open access
- closed
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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.
