Associated Papers
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.
Paterra R et al.
Cancers, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF1
Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis.
Cheng CK et al.
Ejhaem, 2022
35846205 (PubMed )
Supplement: JHA2-3-184-s002.xlsx › All_MPN_cases
Identification of a missense mutation causing exon skipping in a neurofibromatosis type 1 patient.
Fu Y et al.
The Journal of Dermatology, 2018
Children with 5'-end NF1 gene mutations are more likely to have glioma.
Anastasaki C et al.
Neurology. Genetics, 2017
28955729 (PubMed )
Supplement: supp_3.5.e192_NG_2017_005934R1_Supplementary_Data.pdf
Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment.
Pros E et al.
European Journal of Human Genetics : Ejhg, 2010
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.
Pros E et al.
Human Mutation, 2008
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