Associated Papers
DICER1 Mutational Spectrum in Intracranial CNS-Neoplasias-A Review and a Report from the CNS-InterREST GPOH Study Center.
Manea S et al.
Cancers, 2025
40361440 (PubMed )
Supplement: cancers-17-01513-s001.zip › cancers-3488083-supplementary.xlsx › Blatt_1_-_Tabelle_1
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Safonov A et al.
Nature Communications, 2025
40169570 (PubMed )
Supplement: 41467_2025_57077_MOESM3_ESM.xlsx › Supplementary_Data_4
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
Clinical sequencing identifies potential actionable alterations in a high rate of urachal and primary bladder adenocarcinomas.
Varadi M et al.
Cancer Medicine, 2023
36670542 (PubMed )
Supplement: CAM4-12-9041-s001.xlsx › QCI_-_UrC_-_Targeted
Genomic characterization of DICER1-associated neoplasms uncovers molecular classes.
Kommoss FKF et al.
Nature Communications, 2023
36966138 (PubMed )
Supplement: 41467_2023_37092_MOESM8_ESM.xlsx › Tabelle1
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.
Paterra R et al.
Cancers, 2022
Prospective genomically guided identification of "early/evolving" and "undersampled" IDH-wildtype glioblastoma leads to improved clinical outcomes.
Zhang Y et al.
Neuro-oncology, 2022
35395677 (PubMed )
Supplement: noac089_suppl_supplementary_tables_s1-s11.xlsx › Table_S2_TCGA_cohort
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
Recurrent Mandibular Giant Cell Lesion in Neurofibromatosis Type 1: Second Hit Mutation on the NF1 Gene in the Osseous Lesion.
Friedrich RE et al.
Anticancer Research, 2022
Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.
Miller EM et al.
Bmc Medical Genomics, 2020
33256706 (PubMed )
Supplement: 12920_2020_824_MOESM5_ESM.xlsx › Sheet1
The genomic landscapes of individual melanocytes from human skin.
Tang J et al.
Nature, 2020
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
Non-Coding RNA and Tumor Development in Neurofibromatosis Type 1: ANRIL Rs2151280 Is Associated with Optic Glioma Development and a Mild Phenotype in Neurofibromatosis Type 1 Patients.
Tritto V et al.
Genes, 2019
31694342 (PubMed )
Supplement: genes-10-00892-s001.zip › SupplementaryRev › TableS1.lsx.xlsx › Table_1
GABA deficit in the visual cortex of patients with neurofibromatosis type 1: genotype-phenotype correlations and functional impact.
Violante IR et al.
Brain : a Journal of Neurology, 2013
Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1.
Ribeiro MJ et al.
Investigative Ophthalmology & Visual Science, 2012
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
Upadhyaya M et al.
Human Genetics, 1997
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