The DOI matches its Crossref record.
The Diagnostic Evaluation and Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2
Abstract
OBJECTIVE: Neurofibromatosis 1 and neurofibromatosis 2 are autosomal dominant genetic disorders in which affected individuals develop both benign and malignant tumors at an increased frequency. Since the original National Institutes of Health Consensus Development Conference in 1987, there has been significant progress toward a more complete understanding of the molecular bases for neurofibromatosis 1 and neurofibromatosis 2. Our objective was to determine the diagnostic criteria for neurofibromatosis 1 and neurofibromatosis 2, recommendations for the care of patients and their families at diagnosis and during routine follow-up, and the role of DNA diagnostic testing in the evaluation of these disorders. DATA SOURCES: Published reports from 1966 through 1996 obtained by MEDLINE search and studies presented at national and international meetings. STUDY SELECTION: All studies were reviewed and analyzed by consensus from multiple authors. DATA EXTRACTION: Peer-reviewed published data were critically evaluated by independent extraction by multiple authors. DATA SYNTHESIS: The main results of the review were qualitative and were reviewed by neurofibromatosis clinical directors worldwide through an Internet Web site. CONCLUSIONS: On the basis of the information presented in this review, we propose a comprehensive approach to the diagnosis and treatment of individuals with neurofibromatosis 1 and neurofibromatosis 2.
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
Pheochromocytoma and Paraganglioma
Neumann, H. P. H., Young, W. F., & Eng, C. (2019) · New England Journal of Medicine · doi:10.1056/nejmra1806651 · Cited by 736
The diagnosis and medical management of advanced neuroendocrine tumors.
Kaltsas, G. A., Besser, G. M., & Grossman, A. B. (2004) · Endocrine Reviews · doi:10.1210/er.2003-0014 · Cited by 674
Zeiger, M. A., Thompson, G. B., Duh, Q.-Y., Hamrahian, A. H., Angelos, P., Elaraj, D., Fishman, E., Kharlip, J., Zeiger, M. A., Thompson, G. B., et al. (2009) · Endocrine Practice · doi:10.4158/ep.15.s1.1 · Cited by 499
Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., Cordeddu, V., Lepri, F., et al. (2009) · Human Mutation · doi:10.1002/humu.20955 · Cited by 303
Pheochromocytoma: 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
The role of Rho GTPases in disease development
Boettner, B., & Van Aelst, L. (2002) · Gene · doi:10.1016/s0378-1119(02)00426-2 · Cited by 229
Future of genetics of mood disorders research
Merikangas, K. R., Chakravarti, A., Moldin, S. O., Araj, H., Blangero, J., Burmeister, M., Crabbe, J. C., Depaulo, J. R., Foulks, E., Freimer, N. B., et al. (2002) · Biological Psychiatry · doi:10.1016/s0006-3223(02)01471-3 · Cited by 128
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
Losses in chromosomes 17, 19, and 22q in neurofibromatosis type 1 and sporadic neurofibromas
Koga, T., Iwasaki, H., Ishiguro, M., Matsuzaki, A., & Kikuchi, M. (2002) · Cancer Genetics and Cytogenetics · doi:10.1016/s0165-4608(02)00527-7 · Cited by 35
Abdominal neoplastic manifestations of neurofibromatosis type 1
Dare, A. J., Gupta, A. A., Thipphavong, S., Miettinen, M., & Gladdy, R. A. (2020) · Neuro-Oncology Advances · doi:10.1093/noajnl/vdaa032 · Cited by 27
Martin, S., Allen, T., Toledo-Tamula, M. A., Struemph, K., Reda, S., Wolters, P. L., Baldwin, A., Quinn, M., & Widemann, B. C. (2021) · Journal of Contextual Behavioral Science · doi:10.1016/j.jcbs.2021.10.003 · Cited by 10
Metadata
- Authors
- Gutmann, D. H.
- Venue
- JAMA: The Journal of the American Medical Association
- Publisher
- American Medical Association (AMA)
- Published
- 1997-07-02
- Volume
- 278
- Issue
- 1
- Pages
- 51
- ISSN
- 0002-9955 (ISSN-L)
- 0098-7484
- OpenAlex
- W2048140690
- Cited by
- 1,359
- References
- 0
- FWCI
- 38.13
- 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
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.
