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

[Identification of novel pathogenic variants of TRIOBP gene in a pedigree affected with non-syndromic deafness].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2021

Feng Menglong, Zhou Kai, Huang Lancheng, Tang Fengzhu, Qu Shenhong, Lu Qiutian, Chen Ruichun, Li Fengti

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with non-syndromic hearing loss (NSHL). METHODS: Commercialized gene chip was applied to detect common mutations associated with congenital deafness. Whole exome sequencing was carried out for patients for whom gene chip yielded a negative result. Candidate variants were verified by Sanger sequencing. RESULTS: Two patients from the pedigree...

Read the complete abstract on PubMed

Topics

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

Share to Deafness
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss, Sensorineural

Share to Heterozygote

Share to Microfilament Proteins

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 33974254
DOI: 10.3760/cma.j.cn511374-20200609-00420

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Identification of novel pathogenic variants of TRIOBP gene in a pedigree affected with non-syndromic deafness].PMID 33974254Read ↗

Analysis of TRIOBP gene in non-syndromic deafness: A case report.Semantic proximity Read ↗

A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family.Semantic proximity Read ↗

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.Semantic proximity Read ↗

Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing.Semantic proximity Read ↗

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.Semantic proximity Read ↗

Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways.Semantic proximity Read ↗

Variant analysis of 92 Chinese Han families with hearing loss.Semantic proximity Read ↗

Clinical and genetic study of twelve Chinese Han families with non-syndromic deafnessSemantic proximity Read ↗

Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis.Semantic proximity Read ↗

Whole‐exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patientsSemantic proximity Read ↗

Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.Semantic proximity Read ↗

[Identification of novel common mutations among patients with non-syndromic hearing loss with high-throughput gene capture technology].Semantic proximity Read ↗

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