Associated Papers
Genetic Diagnosis of Retinoblastoma Using Aqueous Humour-Findings from an Extended Cohort.
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Cancers, 2024
38672657 (PubMed )
Supplement: cancers-16-01565-s001.zip › cancers-2920790-supplementary_Table_S1_-_AG_editb.xlsx › Supp_Table_S1
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
Clinicopathological and mutational analysis of esophageal basaloid squamous cell carcinoma.
Yanai Y et al.
Virchows Archiv : an International Journal of Pathology, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
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Annual Review of Genomics and Human Genetics, 2022
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Utility of Serial cfDNA NGS for Prospective Genomic Analysis of Patients on a Phase I Basket Study.
Smyth LM et al.
Jco Precision Oncology, 2021
Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.
Scholl SM et al.
Ebiomedicine, 2020
33096476 (PubMed )
Supplement: mmc2.xlsx › RAIDS_algo_filtering_wLOH_forma
Genomic Database Analysis of Uterine Leiomyosarcoma Mutational Profile.
Astolfi A et al.
Cancers, 2020
32751892 (PubMed )
Supplement: cancers-12-02126-s001.zip › cancers-864725-supple › cancers-864725-supple-proofed.xlsx › Table_S2
Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.
Cygan KJ et al.
Human Genetics, 2017
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