ArticleNeurogenetics2009
The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas.
Article in Neurogenetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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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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Who cites it
24 citing papers in PubMed, 67 citations in OpenAlex.
- Bilateral dumbbell-shaped ganglioneuroma of the C2 roots in a patient with Charcot-Marie-Tooth disease: illustrative case.Journal of neurosurgery. Case lessons · 2026Article
- Protein domain-specific genotype-phenotype correlation study of neurofibromatosis type 1.Scientific reports · 2025Article
- Review
- A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.Cancers · 2022Article
- Article
- Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.European journal of human genetics : EJHG · 2022Article
- Phenotyping spinal abnormalities in patients with Neurofibromatosis type 1 using whole-body MRI.Scientific reports · 2021Article
- Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical Use.Neurology · 2021Article
- Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.Cancers · 2021Article
- Non-Oncological Neuroradiological Manifestations in NF1 and Their Clinical Implications.Cancers · 2021Review
- Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.Human mutation · 2020Article
- Spinal neurofibromatosis with NF1 mutation in a classic neurofibromatosis type 1 family: A case report and literature review.Molecular genetics & genomic medicine · 2020Review
- Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.American journal of human genetics · 2018Article
- Update on Genetic Conditions Affecting the Skin and the Kidneys.Frontiers in pediatrics · 2018Review
- Bilateral Mirror Image Cervical Neurofibroma in an Adult with Neurofibromatosis Type 1.The Malaysian journal of medical sciences : MJMS · 2017Article
- Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.Journal of medical genetics · 2013Article
- Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.European journal of human genetics : EJHG · 2013Article
- Spinal neurofibromatosis associated with classical neurofibromatosis type 1: genetic characterisation of an atypical case.BMJ case reports · 2013Article
- Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors.Genes, chromosomes & cancer · 2012Article
- Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.Human genomics · 2011Review
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 3 countries.
Funding
Abstract
Neurofibromatosis type 1 (NF1) is a common inherited complex multi-system disorder associated with the growth of various benign and malignant tumors. About 40% of NF1 patients develop spinal tumors, of whom some have familial spinal neurofibromatosis (FSNF), a variant form of NF1 in which patients present with multiple bilateral spinal tumors but have few other clinical features of the disease. We have studied 22 spinal neurofibromas derived from 14 unrelated NF1 patients. Seven of these patients satisfied the diagnostic criteria of NF1 while the remaining seven had only few features of NF1. The latter group defined as FSNF harbored significantly higher number of missense or missense and splice-site germline mutations compared to the group with classical NF1. This is the first study to describe NF1 somatic mutations in spinal neurofibromas. Loss-of-heterozygosity (LOH) was identified in 8/22 of the spinal tumors, 75% of LOH observed was found to result from mitotic recombination, suggesting that this may represent a frequent mutational mechanisms in these benign tumors. No evidence for LOH of the TP53 gene was found in these tumors.
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Registered trials
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.