Associated Papers
RB1 screening of retinoblastoma patients in Sri Lanka using targeted next generation sequencing (NGS) and gene ratio analysis copy enumeration PCR (GRACE-PCR).
Kugalingam N et al.
Bmc Medical Genomics, 2023
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 › Uni__germline__n__170
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
Parental Origin of the RB1 Gene Mutations in Families with Low Penetrance Hereditary Retinoblastoma.
Alekseeva EA et al.
Cancers, 2021
Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma.
Sánchez-Sánchez F et al.
Human Mutation, 2007
Sarcoma and familial retinoblastoma.
Chen CS et al.
Clinical & Experimental Ophthalmology, 2003
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