Associated Papers
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
A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.
Eloy P et al.
Plos Genetics, 2016
Genotype-phenotype correlations in hereditary familial retinoblastoma.
Taylor M et al.
Human Mutation, 2007
Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma.
Sánchez-Sánchez F et al.
Human Mutation, 2007
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