Associated Papers
Delving Into Retinoblastoma Genetics: Discovery of Novel Mutations and Their Clinical Impact: Retrospective Cohort Study.
Faranoush M et al.
Cancer Medicine, 2025
Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.
Rojanaporn D et al.
Translational Vision Science & Technology, 2022
36173648 (PubMed )
Supplement: tvst-11-9-30_s001.xlsx › n_1763_
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
MAPK and JAK-STAT pathways dysregulation in plasmablastic lymphoma.
Ramis-Zaldivar JE et al.
Haematologica, 2021
33951889 (PubMed )
Supplement: 2020_271957_RAMIS-ZALDIVAR_SUPPL_TableS5.xlsx › 194_Mutations
Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes.
Kooi IE et al.
Scientific Reports, 2016
27126562 (PubMed )
Supplement: srep25264-s3.xls › somaticVariants
High resolution SNP array profiling identifies variability in retinoblastoma genome stability.
Mol BM et al.
Genes, Chromosomes & Cancer, 2014
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
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