ArticleMolecular vision2013
Screening for large rearrangements of the RB1 gene in Iranian patients with retinoblastoma using multiplex ligation-dependent probe amplification.
Article in Molecular vision, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 11 citations in OpenAlex.
- Expanding the RB1 variant landscape of heritable retinoblastoma: unlocking precision oncology potential in Southern Africa.BMC cancer · 2026Article
- Comprehensive profiling of pathogenic germline large genomic rearrangements in a pan-cancer analysis.Molecular oncology · 2023Article
- Copy number variations of cytochromeAsian biomedicine : research, reviews and news · 2023Article
- Retinoblastoma genetics screening and clinical management.BMC medical genomics · 2021Article
- Spectrum of mutations in theMolecular vision · 2019Article
- Atypical Presentation of Bilateral Retinoblastoma with Floaters and Sub-Internal Limiting Membrane Seeds in an 11-Year-Old Asian Indian Male.Ocular oncology and pathology · 2018Article
- Genetic screening in Iranian patients with retinoblastoma.Eye (London, England) · 2017Article
- A stepwise strategy for rapid and cost-effective RB1 screening in Indian retinoblastoma patients.Journal of human genetics · 2015Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo screen deletions/duplications of the RB1 gene in a large cohort of Iranian patients using the multiplex ligation-dependent probe amplification (MLPA) technique.
methodsA total of 121 patients with retinoblastoma, involving 55 unilateral and 66 bilateral or familial retinoblastomas, were included in this study. Among these patients, 121 blood and 43 tissue samples were available. DNA was extracted from the blood and tissue samples and analyzed with an RB1-specific MLPA probe set. The mutation findings were validated with SYBR Green Real-Time PCR.
resultsTwenty-two mutations were found in 21 patients; of these, ten mutations were detected in patients with isolated unilateral retinoblastoma.
conclusionsOur results suggested that MLPA is a fast, reliable, and powerful method for detecting deletions/duplications in patients with retinoblastoma.
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Identifiers
23441118PMC3580967W2114557507What OpenQuestion holds
Registered trials
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