Associated Papers
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.
Pacot L et al.
Journal of Medical Genetics, 2025
Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants.
Ates K et al.
Molecular Syndromology, 2025
Repair of Mutated NF1 mRNA with Trans-Splicing Group I Intron Ribozymes.
Leier A et al.
Cancers, 2025
Engineering precision zebrafish alleles of human disease.
Thomas HR et al.
Biorxiv : the Preprint Server for Biology, 2025
The Role of Artificial Intelligence in Identifying NF1 Gene Variants and Improving Diagnosis.
Grech VS et al.
Genes, 2025
Global proteomics and affinity mass spectrometry analysis of human Schwann cells indicates that variation in and loss of neurofibromin (NF1) alters protein expression and cellular and mitochondrial metabolism.
Fay CX et al.
Scientific Reports, 2025
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
Nf1 mutation disrupts activity-dependent oligodendroglial plasticity and motor learning in mice.
Pan Y et al.
Nature Neuroscience, 2024
Destabilizing NF1 variants act in a dominant negative manner through neurofibromin dimerization.
Young LC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I.
Leier A et al.
Molecular Therapy. Nucleic Acids, 2022
Hippocampal sclerosis and epilepsy surgery in neurofibromatosis type 1: case report of a 3-year-old child explored by SEEG and review of the literature.
Sculier C et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2022
Analysis of patient-specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine.
Long A et al.
Human Mutation, 2022
Restoration of Normal NF1 Function with Antisense Morpholino Treatment of Recurrent Pathogenic Patient-Specific Variant c.1466A>G; p.Y489C.
Awad EK et al.
Journal of Personalized Medicine, 2021
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.
Scala M et al.
Cancers, 2021
Temporal, spatial, and genetic constraints contribute to the patterning and penetrance of murine neurofibromatosis-1 optic glioma.
Brossier NM et al.
Neuro-oncology, 2021
Mutation-Directed Therapeutics for Neurofibromatosis Type I.
Leier A et al.
Molecular Therapy. Nucleic Acids, 2020
An update on the central nervous system manifestations of neurofibromatosis type 1.
Nix JS et al.
Acta Neuropathologica, 2020
In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification.
Accetturo M et al.
International Journal of Molecular Sciences, 2020
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types.
Kang E et al.
Journal of Human Genetics, 2020
Insights into optic pathway glioma vision loss from mouse models of neurofibromatosis type 1.
Freret ME et al.
Journal of Neuroscience Research, 2019
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Koczkowska M et al.
American Journal of Human Genetics, 2018
Contextual signaling in cancer.
Smithson LJ et al.
Seminars in Cell & Developmental Biology, 2016
Exploring the genetic basis for clinical variation in neurofibromatosis type 1.
Gutmann DH
Expert Review of Neurotherapeutics, 2016
Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I.
Li K et al.
Disease Models & Mechanisms, 2016
NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1.
Toonen JA et al.
Human Molecular Genetics, 2016
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.
Burkitt Wright EM et al.
Journal of Medical Genetics, 2013
The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas.
Upadhyaya M et al.
Neurogenetics, 2009
Brain tumors in Neurofibromatosis type 1.
Costa AA et al.
Neuro-oncology Advances, 0