ArticleGenes2019
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Article in Genes, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 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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Who cites it
27 citing papers in PubMed.
- Cancer risk in adults with pathogenic germline variants in RAS/MAPK genes using genomic ascertainment.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Clinical and molecular characterization of 148 pediatric neurofibromatosis type 1 patients: a single-center study identifying 14 novel variants.European journal of pediatrics · 2025Article
- Neurofibromatosis Type 1 : A General Review.Journal of Korean Neurosurgical Society · 2025Article
- Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study.Biomedicines · 2025Article
- Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection.Molecular genetics & genomic medicine · 2025Article
- Bibliometric Analysis of Global Research on Cafe-Au-Lait Macules from 2000 to 2025: Development, Collaboration Patterns, and Emerging Trends.Clinical, cosmetic and investigational dermatology · 2025Article
- Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics.NPJ genomic medicine · 2024Article
- A Comprehensive Overview of NF1 Mutations in Iranian Patients.Neuromolecular medicine · 2024Article
- Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort.Heliyon · 2024Article
- Intronic GermlineJCO precision oncology · 2023Article
- Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations.Cancers · 2023Review
- Identifying a novel frameshift pathogenic variant in a Chinese family with neurofibromatosis type 1 and review of literature.International journal of ophthalmology · 2023Article
- Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and RecurrentGenes · 2022Article
- Review
- Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in thePharmacogenomics and personalized medicine · 2022Article
- Inside the Noonan "universe": Literature review on growth, GH/IGF axis and rhGH treatment: Facts and concerns.Frontiers in endocrinology · 2022Review
- Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.Molecular genetics & genomic medicine · 2021Article
- Olfactory bulb enlargement in neurofibromatosis type 1: report of a novel finding.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Article
- Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variants.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Central precocious puberty in a girl with LEGIUS syndrome: an accidental association?Italian journal of pediatrics · 2021Article
Corrections and comments
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Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pigmentary manifestations can represent an early clinical sign in children affected by Neurofibromatosis type 1 (NF1), Legius syndrome, and other neurocutaneous disorders. The differential molecular diagnosis of these pathologies is a challenge that can now be met by combining next generation sequencing of target genes with concurrent second-level tests, such as multiplex ligation-dependent probe amplification and RNA analysis. We clinically and genetically investigated 281 patients, almost all pediatric cases, presenting with either NF1 (
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