Associated Papers
Translational readthrough using TRIDs - Achievements and challenges for the treatment of inherited retinal disorders.
Nagel-Wolfrum K et al.
Molecular Aspects of Medicine, 2026
The mutational landscape of hereditary retinoblastoma and genotype-phenotype associations in Lebanon.
Assaf N et al.
Ophthalmic Genetics, 2025
Genetic evolution of keratinocytes to cutaneous squamous cell carcinoma.
Tandukar B et al.
Nature Communications, 2025
41309580 (PubMed )
Supplement: 41467_2025_65687_MOESM9_ESM.xlsx › TableS5
Mosaicism and intronic variants in RB1 gene revealed by next generation sequencing in a cohort of Spanish retinoblastoma patients.
Gomez-Mariano G et al.
Experimental Eye Research, 2025
Therapeutic targeting of TP53 nonsense mutations in cancer.
Strandgren C et al.
Upsala Journal of Medical Sciences, 2024
Pharmacological induction of translational readthrough of nonsense mutations in the retinoblastoma (RB1) gene.
Palomar-Siles M et al.
Plos One, 2023
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 › RB1
Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care.
Gargallo P et al.
Cancers, 2021
Downregulation of Cell Cycle and Checkpoint Genes by Class I HDAC Inhibitors Limits Synergism with G2/M Checkpoint Inhibitor MK-1775 in Bladder Cancer Cells.
Hoffmann MJ et al.
Genes, 2021
33670166 (PubMed )
Supplement: genes-12-00260-s001.zip › Supplementary › supp_Tables › Table_S2_Mutations_in_UCC.xlsx › RB1
Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.
Woodhouse R et al.
Plos One, 2020
32976510 (PubMed )
Supplement: pone.0237802.s009.zip › Table_9_Accuracy_Short_Variant_Line_Data.xlsx › sheet_1
Screening of RB1 alterations in Brazilian patients with retinoblastoma and relatives with retinoma: phenotypic and genotypic associations.
Barbosa RH et al.
Investigative Ophthalmology & Visual Science, 2013
Influence of MDM2 and MDM4 on development and survival in hereditary retinoblastoma.
de Oliveira Reis AH et al.
Pediatric Blood & Cancer, 2012
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