ArticleJournal of medical genetics1998
Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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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
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 89 citations in OpenAlex.
- Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.Journal of genetic counseling · 2007Guideline
- Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.American journal of medical genetics. Part C, Seminars in medical genetics · 2024Article
- Article
- PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma.The Journal of investigative dermatology · 2023Article
- Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions.Human genetics · 2021Review
- AtypicalGenes · 2021Review
- Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis.Cell reports · 2021Article
- Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions lead to high tumor-burden and increased tumor-growth.PLoS genetics · 2021Article
- SUZ12 Loss Amplifies the Ras/ERK Pathway by Activating Adenylate Cyclase 1 in NF1-Associated Neurofibromas.Frontiers in oncology · 2021Article
- Clinical characterization of children and adolescents with NF1 microdeletions.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
- Isolated Pheochromocytoma in a 73-Year-Old Man With No Clinical Manifestations of Type 1 Neurofibromatosis Carrying an Unsuspected Deletion of the EntireFrontiers in endocrinology · 2019Article
- Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions.Human genetics · 2019Article
- Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions.Human genetics · 2018Article
- Emerging genotype-phenotype relationships in patients with large NF1 deletions.Human genetics · 2017Review
- Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome.Familial cancer · 2014Article
- Expression analysis of genes lying in the NF1 microdeletion interval points to four candidate modifiers for neurofibroma formation.Neurogenetics · 2009Article
- Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination.American journal of human genetics · 2007Article
- Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature.Journal of medical genetics · 2006Review
- High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene.American journal of human genetics · 2004Article
- Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions.Human genetics · 2004Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
A set of neurofibromatosis type 1 (NF1) patients was screened for large NF1 gene deletions by comparing patient and parent genotypes at 10 intragenic polymorphic loci. Of 67 patient/parent sets (47 new mutation patients and 20 familial cases), five (7.5%) showed loss of heterozygosity (LOH), indicative of NF1 gene deletion. These five patients did not have severe NF1 manifestations, mental retardation, or dysmorphic features, in contrast to previous reports of large NF1 deletions. All five deletions were de novo and occurred on the maternal chromosome. However, two patients showed partial LOH, consistent with somatic mosaicism for the deletion, suggesting that mosaicism may be more frequent in NF1 than previously recognised (and may have bearing on clinical severity). We suggest that large NF1 deletions (1) are not always associated with unusual clinical features, (2) tend to occur more frequently on maternal alleles, and (3) are an important mechanism for constitutional and somatic mutations in NF1 patients.
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Registered trials
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