Associated Papers
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.
Paterra R et al.
Cancers, 2022
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.
Koster R et al.
Npj Genomic Medicine, 2021
34782607 (PubMed )
Supplement: 41525_2021_258_MOESM5_ESM.xlsx › replication_raw_data
Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions lead to high tumor-burden and increased tumor-growth.
Well L et al.
Plos Genetics, 2021
33951044 (PubMed )
Supplement: pgen.1009517.s002.xlsx › Tabelle1
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.
Melloni G et al.
Cancers, 2019
The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas.
Upadhyaya M et al.
Neurogenetics, 2009
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