Associated Papers
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.
Di Giosaffatte N et al.
Breast (edinburgh, Scotland), 2025
41218342 (PubMed )
Supplement: mmc5.xlsx › Foglio1
Gastric cancer patient with MET amplification treated with crizotinib achieves long-term survival: a case report.
Xu W et al.
Ame Case Reports, 2025
The SOS1 Inhibitor MRTX0902 Blocks KRAS Activation and Demonstrates Antitumor Activity in Cancers Dependent on KRAS Nucleotide Loading.
Sudhakar N et al.
Molecular Cancer Therapeutics, 2024
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
31979111 (PubMed )
Supplement: ijms-21-00721-s001.zip › ijms-614345-supplementary_files › Supplementary_Table_S3.xlsx › Suppl._Table_S3
Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.
Stella A et al.
Genes, 2018
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.
Santoro C et al.
American Journal of Medical Genetics. Part A, 2017
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
A new NF1 variant in a patient with atypical manifestations.
Onitilo AA et al.
American Journal of Medical Genetics. Part A, 2013
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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