ArticleJournal of medical genetics2007
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification.
Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed.
- The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.Genetic testing and molecular biomarkers · 2014Trial
- Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study.Biomedicines · 2025Article
- Article
- Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations.Cancers · 2023Review
- Malignant Peripheral Nerve Sheath Tumors: Latest Concepts in Disease Pathogenesis and Clinical Management.Cancers · 2023Review
- Spectrum of Genetic Mutations in Korean Pediatric Acute Lymphoblastic Leukemia.Journal of clinical medicine · 2022Article
- Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and RecurrentGenes · 2022Article
- Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions.Human genetics · 2021Review
- SDHB large deletions are associated with absence of MIBG uptake in metastatic lesions of malignant paragangliomas.Endocrine · 2021Article
- Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.Cancers · 2021Article
- Giant mediastinal mass in a 3-year-old boy: A rare presentation of neurofibromatosis type I.Iranian journal of child neurology · 2021Article
- Prevalence, Type, and Molecular Spectrum ofGenes · 2019Article
- New Insights Into Pheochromocytoma Surveillance of Young Patients WithJournal of the Endocrine Society · 2019Article
- Updates on the Role of Molecular Alterations and NOTCH Signalling in the Development of Neuroendocrine Neoplasms.Journal of clinical medicine · 2019Review
- Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.Journal of biomedical science · 2018Article
- Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1.Journal of molecular neuroscience : MN · 2018Article
- Emerging genotype-phenotype relationships in patients with large NF1 deletions.Human genetics · 2017Review
- Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.Nucleic acids research · 2017Article
- MTTE: an innovative strategy for the evaluation of targeted/exome enrichment efficiency.Oncotarget · 2016Article
- Genomic imbalance in subjects with idiopathic intellectual disability detected by multiplex ligation-dependent probe amplification.Journal of genetics · 2016Article
Corrections and comments
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Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To estimate the contribution of single and multi-exon NF1 gene copy-number changes to the NF1 mutation spectrum, we analysed a series of 201 Italian patients with neurofibromatosis type 1 (NF1). Of these, 138 had previously been found, using denaturing high-performance liquid chromatography or protein truncation test, to be heterozygous for intragenic NF1 point mutations/deletions/insertions, and were excluded from this analysis. The remaining 63 patients were analysed using multiplex ligation-dependent probe amplification (MLPA), which allows detection of deletions or duplications encompassing >or=1 NF1 exons, as well as entire gene deletions. MLPA results were validated using real-time quantitative PCR (qPCR) or fluorescent in situ hybridisation. MLPA screening followed by real-time qPCR detected a total of 23 deletions. Of these deletions, six were single exon, eight were multi-exon, and nine were of the entire NF1 gene. In our series, deletions encompassing >or=1 NF1 exons accounted for approximately 7% (14/201) of the NF1 gene mutation spectrum, suggesting that screening for these should now be systematically included in genetic testing of patients with NF1.
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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.