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

Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.

Molecular vision - 1 Jan 2014

He Ming-yan, An Yu, Gao Yi-jin, Qian Xiao-wen, Li Gang, Qian Jiang

Abstract excerpt

PURPOSE: Retinoblastoma (RB) sets the paradigm for hereditary cancer syndromes, for which medical care can change depending on the results of genetic testing. In this study, we screened constitutional mutations in the RB1 gene via a method combining DNA sequencing and multiplex ligation-dependent probe amplification (MLPA), and performed a preliminary exploration of genotype-phenotype correlations. METHODS: The...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to China
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Genetic Testing

Share to Infant

Share to Retinoblastoma

Share to Retinoblastoma Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 24791139
PMCID: PMC4000713

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.PMID 24791139Read ↗

Spectrum of RB1 Germline Mutations and Clinical Features in Unrelated Chinese Patients With RetinoblastomaSemantic proximity Read ↗

Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma.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 ↗

[Characteristics of RB1 gene mutations in Chinese patients with retinoblastoma].Semantic proximity Read ↗

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

Identification of novel RB1 genetic variants in Retinoblastoma patients and their impact on clinical outcome.Semantic proximity Read ↗

Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counsellingSemantic proximity Read ↗

Genetic screening in Iranian patients with retinoblastoma.Semantic proximity Read ↗

RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling.Semantic proximity Read ↗

Novel mutations in the RB1 gene from Chinese families with a history of retinoblastoma.Semantic proximity Read ↗

Features of molecular genetic diagnosis of retinoblastomaSemantic proximity Read ↗

Delving Into Retinoblastoma Genetics: Discovery of Novel Mutations and Their Clinical Impact: Retrospective Cohort StudySemantic proximity Read ↗

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