The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss
Published 2019 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss
Authors
Keywords
-
Journal
Genes
Volume 10, Issue 10, Pages 744
Publisher
MDPI AG
Online
2019-09-25
DOI
10.3390/genes10100744
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq™ custom panel
- (2018) Shin-ya Nishio et al. Molecular Genetics & Genomic Medicine
- Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss
- (2017) Nobuko Yamamoto et al. Orphanet Journal of Rare Diseases
- POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss
- (2017) Tomohiro Kitano et al. PLoS One
- Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
- (2016) Christina M. Sloan-Heggen et al. HUMAN GENETICS
- A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family
- (2016) Asma Behlouli et al. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
- Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness
- (2016) Wenjun Xia et al. Frontiers of Medicine
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Novel TECTA Mutations Identified in Stable Sensorineural Hearing Loss and Their Clinical Implications
- (2014) Ah Reum Kim et al. AUDIOLOGY AND NEURO-OTOLOGY
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- A Novel Mutation in the TECTA Gene in a Chinese Family with Autosomal Dominant Nonsyndromic Hearing Loss
- (2014) Yu Su et al. PLoS One
- Whole-Exome Sequencing Identifies a Novel Genotype-Phenotype Correlation in the Entactin Domain of the Known Deafness Gene TECTA
- (2014) Byung Yoon Choi et al. PLoS One
- Large-Scale East-Asian eQTL Mapping Reveals Novel Candidate Genes for LD Mapping and the Genomic Landscape of Transcriptional Effects of Sequence Variants
- (2014) Maiko Narahara et al. PLoS One
- Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation
- (2013) Takehiko Naito et al. PLoS One
- TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion
- (2012) Hideaki Moteki et al. JOURNAL OF HUMAN GENETICS
- DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss
- (2011) Michael S. Hildebrand et al. HUMAN MUTATION
- Predicting the functional impact of protein mutations: application to cancer genomics
- (2011) Boris Reva et al. NUCLEIC ACIDS RESEARCH
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Identification of deleterious mutations within three human genomes
- (2009) S. Chun et al. GENOME RESEARCH
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now