TY  - GEN
AU  - Gomez-Mariano, Gema Maria
AU  - Hernandez-SanMiguel, Esther
AU  - Fernandez-Prieto, Marta
AU  - Ramos-Del Saz, Sheila
AU  - Baladron-Jimenez, Beatriz Isabel
AU  - Mirela Mielu, Lidia
AU  - Rivera Pinto, Daniel
AU  - Moneo Ocaña, Victoria
AU  - López-Jiménez, Lidia
AU  - Rodriguez-Martin, Carlos
AU  - Fernandez-Teijeiro Álvarez, Ana
AU  - Sabado, Constantino
AU  - Bermejo-Sanchez, Eva
AU  - Alonso, Javier
AU  - Martinez-Delgado, Beatriz
PY  - 2025
DO  - 10.1016/j.exer.2025.110233
SN  - 0014-4835
UR  - https://hdl.handle.net/20.500.12105/26317
AB  - Constitutional variants in the RB1 gene predispose individuals to the development of Retinoblastoma (RB) and the occurrence of second tumors in adulthood. Detection of causal RB1 gene variants is essential to establish the genetic diagnosis and to...
LA  - eng
PB  - Elsevier
KW  - MLPA
KW  - Mosaicism
KW  - Next generation sequencing
KW  - RB1 gene
KW  - Retinoblastoma
KW  - Child
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Female
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Infant
KW  - Introns
KW  - Male
KW  - Mosaicism
KW  - Mutation
KW  - Retinal Neoplasms
KW  - Retinoblastoma Binding Proteins
KW  - Retinoblastoma
KW  - Spain
KW  - Ubiquitin-Protein Ligases
TI  - Mosaicism and intronic variants in RB1 gene revealed by next generation sequencing in a cohort of Spanish retinoblastoma patients
TY  - research article
ER  -