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

Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.

Investigative ophthalmology & visual science - 1 Mar 2018

Sun Tengyang, Xu Ke, Ren Yanfan, Xie Yue, Zhang Xiaohui, Tian Lu, Li Yang

Abstract excerpt

Purpose: Usher syndrome (USH) refers to a group of autosomal recessive disorders causing deafness and blindness. The objectives of this study were to determine the mutation spectrum in a cohort of Chinese patients with USH and to describe the clinical features of the patients with mutations. Methods: A total of 119 probands who were clinically diagnosed with USH were recruited for genetic analysis. All probands...

Read the complete abstract on PubMed

Topics

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

Share to Molecular Diagnostic Techniques
Share to Analysis of Variance

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Asian People

Share to DNA Mutational Analysis

Share to Genetic Testing

Share to Infant

Share to Usher Syndromes

Source

Identifiers

PMID: 29625443
DOI: 10.1167/iovs.17-23312

Genes

PCDH15
ABHD12
CDH23
CHM
CNGA1
EYS
TULP1

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

Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.PMID 29625443Read ↗

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.Semantic proximity Read ↗

Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.Semantic proximity Read ↗

Novel mutations of the USH2A gene and clinical phenotypes in Chinese Usher syndrome familiesSemantic proximity Read ↗

Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.Semantic proximity Read ↗

A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family.Semantic proximity Read ↗

Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.Semantic proximity Read ↗

Targeted next generation sequencing for molecular diagnosis of Usher syndrome.Semantic proximity Read ↗

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.Semantic proximity Read ↗

Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.Semantic proximity Read ↗

Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing.Semantic proximity Read ↗

Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.Semantic proximity Read ↗

Targeted exon sequencing in Usher syndrome type I.Semantic proximity Read ↗

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