ArticleFamilial cancer2007
Molecular diagnosis of neurofibromatosis type 1: 2 years experience.
Article in Familial cancer, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 88 citations in OpenAlex.
- Resolving variants of uncertain significance in neurofibromatosis: An integrated approach combining deep learning and minigene assays.Functional & integrative genomics · 2026Article
- Case Report: SomaticFrontiers in oncology · 2026Article
- Case Report: A somaticFrontiers in neuroscience · 2026Article
- A scarce case: Co-occurrence of neurofibromatosis type 1 and Klinefelter syndrome.Global medical genetics · 2025Article
- Article
- Paget disease of the breast with underlying invasive ductal cancer in neurofibromatosis type 1: a case report.Translational cancer research · 2023Article
- A fortuitous discovery of a neurofibroma in a female patient with type 1 neurofibromatosis: a case report.The Journal of international medical research · 2022Article
- Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and RecurrentGenes · 2022Article
- Epidemiological profile and clinical characteristics of 491 Brazilian patients with neurofibromatosis type 1.Brain and behavior · 2022Article
- Neurofibromatosis Type 1 Has a Wide Spectrum of Growth Hormone Excess.Journal of clinical medicine · 2022Article
- Review
- Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.Molecular genetics & genomic medicine · 2021Article
- Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts.Annals of oncology : official journal of the European Society for Medical Oncology · 2020Review
- Simultaneous Detection ofGenes · 2020Article
- Review
- Clinical and molecular characteristics of thirty NF1 variants in Chinese patients with neurofibromatosis type 1.Molecular biology reports · 2019Article
- Article
- Burden of adult neurofibromatosis 1: development and validation of a burden assessment tool.Orphanet journal of rare diseases · 2019Article
- Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.Journal of biomedical science · 2018Article
- Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1.BMC medical genetics · 2018Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Our experience of providing an NF1 gene diagnostic mutation detection service as part of the U.K. Genetic Testing Network (UKGTN) is presented. A total of 169 unrelated individuals suspected of having neurofibromatosis type I (NF1) were referred for NF1 diagnostic testing over a 2 year period. Mutation analysis of the entire NF1 coding region and the flanking splice sites was carried out, and included the use of a combination of FISH, dHPLC and MLPA. Possible disease causing mutations were identified in 109 (64%) cases. These comprised 88 different sequence alterations, of which 57 were novel. Out of the 169 cases referred, there were 102 patients with reliable clinical data, of whom 78 satisfied the NIH diagnostic criteria for NF1. Within this better defined cohort of NF1 patients, NF1 mutations were identified in 61 individuals (78%), showing the importance of clinical selection on overall test sensitivity, and highlighting the problem of full clinical data collection in the audit of routine services. As mutation detection technologies advance, facilitating direct sequencing of all coding and flanking non-coding regions of the NF1 gene, the development of an even more cost-effective, quick and sensitive diagnostic test for future testing of NF1 is discussed.
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