ReviewCurrent neurology and neuroscience reports2001
Diagnosis and management of neurofibromatosis type 1.
Review in Current neurology and neuroscience reports, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 52 citations in OpenAlex.
- Treatment patterns and healthcare resource utilization in pediatric neurofibromatosis type 1-associated symptomatic plexiform neurofibroma in the United States from 2000 to 2019.Neuro-oncology practice · 2026Article
- Treatment for paraplegia due to severe kyphoscoliosis associated with neurofibromatosis type 1 via halo-pelvic traction: a case report.Journal of medical case reports · 2025Article
- Maintaining Engagement in Adults with Neurofibromatosis Type 1 to Use the iCanCope Mobile Application (iCanCope-NF).Cancers · 2023Article
- Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma Transforming into Diffuse Large B-Cell Lymphoma in a Young Adult Patient with Neurofibromatosis Type 1: A Case Report.Medicina (Kaunas, Lithuania) · 2022Article
- Efficacy of denosumab therapy for neurofibromatosis type 1 with osteoporosis and history of fractures: a case report.Therapeutics and clinical risk management · 2018Article
- A Giant Lumbar Pseudomeningocele in a Patient with Neurofibromatosis Type 1: A Case Report.Case reports in medicine · 2017Article
- Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma.PloS one · 2015Article
- 18-fluorodeoxyglucose-positron emission tomography (FDG-PET) evaluation of nodular lesions in patients with Neurofibromatosis type 1 and plexiform neurofibromas (PN) or malignant peripheral nerve sheath tumors (MPNST).Pediatric blood & cancer · 2013Article
- Recurrent retroperitoneal liposarcoma in a patient with neurofibromatosis type I.BMJ case reports · 2012Article
- Sarcomas in children with neurofibromatosis type 1-poor prognosis despite aggressive combined therapy in four patients treated in a single oncological institution.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2007Article
- Treatments for astrocytic tumors in children: current and emerging strategies.Paediatric drugs · 2006Review
- Spinal deformity in neurofibromatosis type-1: diagnosis and treatment.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2005Review
- Neurofibromatosis and systemic lupus erythematosus. A matter of coincidence?Clinical rheumatology · 2003Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder whose major feature is the occurrence of multiple neurofibromas, which are benign tumors of the nerve sheath. It affects an estimated one in 3000 to 4000 individuals. In addition to neurofibromas, there are many other clinical manifestations, including malignant tumors such as gliomas or malignant peripheral nerve sheath tumors, and nontumor effects such as skeletal dysplasia and learning disability. Diagnosis is established on the basis of clinical criteria. Molecular genetic testing is feasible, but the large size of the gene and wide range of pathogenic mutations have so far impeded the development of a clinical diagnostic test. Insights into pathogenesis have followed from identification of the NF1 gene and the development of animal models. The major function of the gene product appears to be regulation of the ras protein. Tumors are believed to arise by the loss of function of the NF1 protein, suggesting that NF1 behaves as a tumor suppressor gene. Heterozygous effects on some cell types are also likely, however. The role of ras in the pathogenesis of tumors in NF1 has suggested an approach to treatment using ras inhibitors, some of which are likely to begin in clinical trials in NF1 patients in the near future.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.