Associated Papers
Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children.
Nasi L et al.
Acta Dermato-venereologica, 2023
37272364 (PubMed )
Supplement: ActaDV-103-5758-s1.pdf
Tracking tumor evolution during the first-line treatment in brain glioma via serial profiling of cell-free tumor DNA from tumor in situ fluid.
Sheng Z et al.
Frontiers in Oncology, 2023
37920153 (PubMed )
Supplement: Table_1.xlsx › Table_S4.__Targetable_variants
Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer.
Abdel-Wahab R et al.
Scientific Reports, 2020
33328484 (PubMed )
Supplement: 41598_2020_77939_MOESM1_ESM.xlsx › Sheet1
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
Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.
Palma Milla C et al.
Annals of Human Genetics, 2018
Genomic portfolio of Merkel cell carcinoma as determined by comprehensive genomic profiling: implications for targeted therapeutics.
Cohen PR et al.
Oncotarget, 2016
Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.
Xu W et al.
International Journal of Molecular Medicine, 2014
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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