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

Five novel copy number variations detected in patients with familial exudative vitreoretinopathy.

Molecular vision - 1 Jan 2021

Luo Jia, Li Jing, Zhang Xiang, Li Jia-Kai, Chen Hao-Jie, Zhao Pei-Quan, Fei Ping

Abstract excerpt

Purpose: Familial exudative vitreoretinopathy (FEVR) is an inherited retinal vascular disease genetically heterogeneous with multiple causative genes. The aim of this study is to report five novel copy number variation (CNV) regions in FEVR patients and to investigate the possible contributions of novel CNVs to FEVR. Methods: In this study, 824 FEVR families were collected. All cases were performed using the...

Read the complete abstract on PubMed

Topics

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

Share to DNA Copy Number Variations
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Diseases, Hereditary

Share to Familial Exudative Vitreoretinopathies

Share to Kinesins

Share to Low Density Lipoprotein Receptor-Related Protein-5

Share to Retinal Diseases

Share to Tetraspanins

Source

Open in PubMed Open full text

Identifiers

PMID: 34924743
PMCID: PMC8645187

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

Five novel copy number variations detected in patients with familial exudative vitreoretinopathy.PMID 34924743Read ↗

Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy.Semantic proximity Read ↗

Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Mutation spectrum in a cohort with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Molecular Characterization of FZD4, LRP5, and TSPAN12 in Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Large Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR).Semantic proximity Read ↗

Variable Familial Exudative Vitreoretinopathy in a family harbouring variants in both FZD4 and TSPAN12.Semantic proximity Read ↗

Whole-Gene Deletions of FZD4 Cause Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Whole exome sequencing revealed 14 variants in NDP, FZD4, LRP5, and TSPAN12 genes for 20 families with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Five novel dysfunctional variants in the TSPAN12 gene in familial exudative vitreoretinopathy.Semantic proximity Read ↗

Novel variants in familial exudative vitreoretinopathy patients with KIF11 mutations and the Genotype-Phenotype correlation.Semantic proximity Read ↗

KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy.Semantic proximity Read ↗

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