Molecular diagnosis in patients with retinoblastoma: Report of a series of cases

Shields, 2006, Basic understanding of current classification and management of retinoblastoma, Curr Opin Ophthalmol, 17, 228, 10.1097/01.icu.0000193079.55240.18 Corson, 2007, Gallie BL One hit, 2 hits, 3 hits, more? Genomic changes in the development of retinoblastoma, Genes Chromosome Cancer, 46, 617, 10.1002/gcc.20457 Shields, 2013, Retinoblastoma frontiers with intravenous, intra-arterial, periocular, and intravitreal chemotherapy, Eye, 27, 253, 10.1038/eye.2012.175 Noorani, 1996, Cost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma, Am J Hum Genet, 59, 301 Ossandón, 2015, Manejo multidisciplinario en retinoblastoma: experiencia en 37 ojos, Arch Soc Esp Oftalmol, 90, 55, 10.1016/j.oftal.2014.09.015 Trincado, 2008, Retinoblastoma en pediatría, experiencia en un hospital pediátrico, Rev Chil Pediatr, 79, 614, 10.4067/S0370-41062008000600006 Kivelä, 2009, The epidemiological challenge of the most frequent eye cancer: retinoblastoma, an issue of birth and death, Br J Ophthalmol, 93, 1129, 10.1136/bjo.2008.150292 Ottaviani, 2013, Spectrum of RB1 mutations in Argentine patients: 20-years experience in the molecular diagnosis of retinoblastoma, Ophthalmic Genet, 34, 189, 10.3109/13816810.2012.755553 Macías, 2008, Spectrum of RB1 gene mutations and loss of heterozygosity in Mexican patients with retinoblastoma: identification of 6 novel mutations, Cancer Biomark, 4, 93, 10.3233/CBM-2008-4205 Barbosa, 2013, Screening of RB1 alterations in Brazilian patients with retinoblastoma and relatives with retinoma: phenotypic and genotypic associations, Invest Ophthalmol Vis Sci, 54, 3184, 10.1167/iovs.13-11686 Alonso, 2005, Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients, Hum Mutat, 25, 99, 10.1002/humu.9299 De Andrade, 2006, A molecular study of first and second RB1 mutational hits in retinoblastoma patients, Cancer Genet Cytogenet, 167, 43, 10.1016/j.cancergencyto.2005.08.017 Richter, 2003, Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma, Am J Hum Genet, 72, 253, 10.1086/345651 Chen, 2014, Enhanced sensitivity for detection of low-level germline mosaic RB1 mutations in sporadic retinoblastoma cases using deep semiconductor sequencing, Hum Mutat, 35, 384, 10.1002/humu.22488 Albrecht, 2005, Lohmann DR Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression, Hum Mutat, 26, 437, 10.1002/humu.20234 Bunin, 1989, Hammond GD frequency of 13q abnormalities among 203 patients with retinoblastoma, J Natl Cancer Inst, 81, 370, 10.1093/jnci/81.5.370 Mitter, 2011, Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions, Eur J Hum Genet, 19, 947, 10.1038/ejhg.2011.58