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

Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.

Investigative ophthalmology & visual science - 1 Dec 2021

Tao Tianchang, Xu Ningda, Li Jiarui, Li Hongyan, Qu Jinfeng, Yin Hong, Liang Jianhong, Zhao Mingwei, Li Xiaoxin, Huang Lvzhen

Abstract excerpt

Purpose: To investigate the clinical findings in Chinese patients diagnosed with familial exudative vitreoretinopathy (FEVR) and carrying pathogenic mutations. Methods: One hundred twenty unrelated patients with FEVR were enrolled in this study. Genomic DNA and ophthalmic examinations were collected from all the patients and their available relatives. Targeted next-generation sequencing was performed to detect...

Read the complete abstract on PubMed

Topics

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

Share to Eye Proteins
Share to Familial Exudative Vitreoretinopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frizzled Receptors

Share to High-Throughput Nucleotide Sequencing

Share to Kinesins

Share to Low Density Lipoprotein Receptor-Related Protein-5

Share to Nerve Tissue Proteins

Share to Tetraspanins

Source

Open in PubMed Open full text

Identifiers

PMID: 34860240
DOI: 10.1167/iovs.62.15.4
PMCID: PMC8648064

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.PMID 34860240Read ↗

Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Clinical and genetical features of probands and affected family members with familial exudative vitreoretinopathy in a large Chinese cohort.Semantic proximity Read ↗

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

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

Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Genotype-phenotype associations in familial exudative vitreoretinopathy: A systematic review and meta-analysis on more than 3200 individuals.Semantic proximity Read ↗

Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

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

Novel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR).Semantic proximity Read ↗

FZD4 in a Large Chinese Population With Familial Exudative Vitreoretinopathy: Molecular Characteristics and Clinical Manifestations.Semantic proximity Read ↗

Identification of LRP5 mutations in families with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Identification of novel variants in the FZD4 gene associated with familial exudative vitreoretinopathy in Chinese families.Semantic proximity Read ↗

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