Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The mutational landscape of hereditary retinoblastoma and genotype-phenotype associations in Lebanon.

Ophthalmic genetics - 1 Dec 2025

Assaf Nada, Zougheib Youssef, Borghol Raphah, Al-Haddad Christiane

Abstract excerpt

BACKGROUND: Retinoblastoma is the most common intraocular tumor of childhood. In Lebanon, its incidence is reported at 3.6 per million person-years. This study aimed to characterize the spectrum of RB1 variants in hereditary retinoblastoma and explore genotype-phenotype associations in a Lebanese cohort. METHODS: A retrospective chart review was conducted on retinoblastoma patients enrolled in the Children's...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Lebanon

Share to Retinal Neoplasms

Share to Retinoblastoma

Share to Retinoblastoma Binding Proteins

Share to Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 40898818
DOI: 10.1080/13816810.2025.2554659

Genes

RB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The mutational landscape of hereditary retinoblastoma and genotype-phenotype associations in Lebanon.PMID 40898818Read ↗

Genetics of Retinoblastoma: An Overview and Significance of Genetic Testing in Clinical PracticeSemantic proximity Read ↗

Clinical characteristics and germline mutation spectrum of RB1 in Chinese patients with retinoblastoma: A dual-center study of 145 patients.Semantic proximity Read ↗

Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma.Semantic proximity Read ↗

Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan.Semantic proximity Read ↗

Comprehensive Analysis of Clinical Phenotype and Genetic Characteristics in Chinese Children with Retinoblastoma Caused by RB1 Gene VariantSemantic proximity Read ↗

Global retinoblastoma studies: A reviewSemantic proximity Read ↗

Prevalence and Penetrance of Heritable Retinoblastoma in Two Adult Population Cohorts: Implications for genomic newborn screeningSemantic proximity Read ↗

[Retinoblastoma in Argentina: study of germline variants of the RB1 gene].Semantic proximity Read ↗

Retinoblastoma for Pediatric Ophthalmologists.Semantic proximity Read ↗

Recent progress in retinoblastoma: Pathogenesis, presentation, diagnosis and managementSemantic proximity Read ↗

A comprehensive genotype-phenotype study in 203 individuals with retinoblastoma.Semantic proximity Read ↗

Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in YunnanSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.