Associated Papers
Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.
Fei H et al.
Orphanet Journal of Rare Diseases, 2025
40410838 (PubMed )
Supplement: 13023_2025_3807_MOESM1_ESM.xlsx › Supplementary_Table_2
Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory.
Martorana D et al.
European Journal of Medical Genetics, 2023
Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1.
Lucas CG et al.
Acta Neuropathologica, 2022
35945463 (PubMed )
Supplement: 401_2022_2478_MOESM1_ESM.xlsx › Table_S5
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.
Napolitano F et al.
Genes, 2022
Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children.
Yao R et al.
Genes, 2019
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T et al.
Genes, 2019
Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.
Stella A et al.
Genes, 2018
A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.
Esposito T et al.
Journal of Neurochemistry, 2015
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