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

A novel deep intronic low penetrance RB1 variant in a retinoblastoma family.

Ophthalmic genetics - 1 Apr 2018

Soliman Sameh E, Racher Hilary, Lambourne Melissa, Matevski Donco, MacDonald Heather, Gallie Brenda

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Carboplatin
Share to Etoposide
Share to Penetrance
Share to Retinal Neoplasms

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Retinoblastoma

Share to Retinoblastoma Binding Proteins

Share to Ubiquitin-Protein Ligases

Share to Vincristine

Source

Identifiers

PMID: 29099630
DOI: 10.1080/13816810.2017.1393828

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel deep intronic low penetrance RB1 variant in a retinoblastoma family.PMID 29099630Read ↗

RB1 gene mutations in retinoblastoma.Semantic proximity Read ↗

Revisiting low penetrance retinoblastoma: an integrated clinical, genetic, and bioinformatic analysis.Semantic proximity Read ↗

RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.Semantic proximity Read ↗

Next-Generation Sequencing of Retinoblastoma Identifies Pathogenic Alterations beyond RB1 Inactivation That Correlate with Aggressive Histopathologic FeaturesSemantic proximity Read ↗

Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.Semantic 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 ↗

Low Penetrance Retinoblastoma.Semantic proximity Read ↗

Molecular Biological Research on the Pathogenic Mechanism of RetinoblastomaSemantic proximity Read ↗

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

Overview of rb gene mutations in patients with retinoblastomaSemantic proximity Read ↗

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

Novel RB1 germline mutation in a healthy man.Semantic proximity Read ↗

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