Associated Papers
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
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
Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma.
Li L et al.
International Ophthalmology, 2022
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 › Bilat__germline__n__938
Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit.
Escudero A et al.
International Journal of Clinical Oncology, 2022
Spectrum of germline mutations in RB1 in Chinese patients with retinoblastoma: Application of targeted next-generation sequencing.
Zou Y et al.
Molecular Vision, 2021
A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma.
Parsam VL et al.
Journal of Genetics, 2009
Germline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis.
Abouzeid H et al.
Molecular Vision, 2009
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