Associated Papers
[Retinoblastoma in Argentina: study of germline variants of the RB1 gene].
Ducatelli ME et al.
Medicina, 2026
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
Genomic landscape of gallbladder cancer: insights from whole exome sequencing.
Awasthi S et al.
International Journal of Surgery (london, England), 2024
Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.
Gao F et al.
Cancer Medicine, 2023
Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.
Rojanaporn D et al.
Translational Vision Science & Technology, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Plasma Genotyping at the Time of Diagnostic Tissue Biopsy Decreases Time-to-Treatment in Patients With Advanced NSCLC-Results From a Prospective Pilot Study.
Thompson JC et al.
Jto Clinical and Research Reports, 2022
Genomic Signature of Oral Squamous Cell Carcinomas from Non-Smoking Non-Drinking Patients.
Koo K et al.
Cancers, 2021
Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.
Gao F et al.
Frontiers in Genetics, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes.
Kooi IE et al.
Scientific Reports, 2016
Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.
Richter S et al.
American Journal of Human Genetics, 2003
Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications.
Alonso J et al.
Human Mutation, 2001
Screening for RB1 mutations in tumor tissue using denaturing high performance liquid chromatography, multiplex ligation-dependent probe amplification, and loss of heterozygosity analysis.
Sellner LN et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0