The DOI matches its Crossref record; 61 of the 61 references it cites were found in a registry or an index.
Neurofibromatosis type 2
Open accessAbstract
Neurofibromatosis type 2 is an autosomal-dominant multiple neoplasia syndrome that results from mutations in the NF2 tumour suppressor gene located on chromosome 22q. It has a frequency of one in 25 000 livebirths and nearly 100% penetrance by 60 years of age. Half of patients inherit a germline mutation from an affected parent and the remainder acquire a de novo mutation for neurofibromatosis type 2. Patients develop nervous system tumours (schwannomas, meningiomas, ependymomas, astrocytomas, and neurofibromas), peripheral neuropathy, ophthalmological lesions (cataracts, epiretinal membranes, and retinal hamartomas), and cutaneous lesions (skin tumours). Optimum treatment is multidisciplinary because of the complexities associated with management of the multiple, progressive, and protean lesions associated with the disorder. We review the molecular pathogenesis, genetics, clinical findings, and management strategies for neurofibromatosis type 2.
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Cites
Mutation and cancer: statistical study of retinoblastoma
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Type 1 Neurofibromatosis Gene: Identification of a Large Transcript Disrupted in Three NF1 Patients
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Self-citationTrofatter, J. (1993) · Cell · doi:10.1016/0092-8674(93)90406-g · Cited by 1,403
Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus
Viskochil, D., Buchberg, A. M., Xu, G., Cawthon, R. M., Stevens, J., Wolff, R. K., Culver, M., Carey, J. C., Copeland, N. G., Jenkins, N. A., et al. (1990) · Cell · doi:10.1016/0092-8674(90)90252-a · Cited by 1,082
A Clinical Study of Type 2 Neurofibromatosis
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Germline Mutation of INI1/SMARCB1 in Familial Schwannomatosis
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Cited by
Menendez, D., Nguyen, T.-A., Freudenberg, J. M., Mathew, V. J., Anderson, C. W., Jothi, R., & Resnick, M. A. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt504 · Cited by 154
Meulepas, J. M., Ronckers, C. M., Merks, J., Weijerman, M. E., Lubin, J. H., & Hauptmann, M. (2016) · Journal of Radiological Protection · doi:10.1088/0952-4746/36/4/953 · Cited by 29
Metadata
- Authors
- Asthagiri, A. R., Parry, D. M., Butman, J. A., Kim, H. J., Tsilou, E. T., Zhuang, Z., & Lonser, R. R.
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 2009-06
- Volume
- 373
- Issue
- 9679
- Pages
- 1974-1986
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- OpenAlex
- W2023011946
- Cited by
- 665
- References
- 61
- FWCI
- 18.75
- Type
- journal article
- Language
- en
- Open access
- green
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- Asthagiri, A. R., Parry, D. M., Butman, J. A., Kim, H. J., Tsilou, E. T., Zhuang, Z., & Lonser, R. R. (2009). Neurofibromatosis type 2. The Lancet. https://doi.org/10.1016/s0140-6736(09)60259-2
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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).
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