Associated Papers
A novel splicing variant in TECTA associated with prelingual autosomal dominant nonsyndromic hearing loss via dominant-negative effect.
Yang Y et al.
Human Molecular Genetics, 2025
Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria.
Frohne A et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2024
Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases.
Misra K et al.
International Journal of Molecular Sciences, 2024
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
Marinakis NM et al.
American Journal of Medical Genetics. Part A, 2021
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.
Baux D et al.
Scientific Reports, 2017
A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family.
Behlouli A et al.
International Journal of Pediatric Otorhinolaryngology, 2016
Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.
Xia W et al.
Frontiers of Medicine, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Novel TECTA mutations identified in stable sensorineural hearing loss and their clinical implications.
Kim AR et al.
Audiology & Neuro-otology, 2015
Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane.
Legan PK et al.
Human Molecular Genetics, 2014
A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.
Su Y et al.
Plos One, 2014
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.
Hildebrand MS et al.
Human Mutation, 2011
[Linkage analysis of one family with autosomal dominant high myopia].
Chang JX et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
[Study on ABO gene polymorphism in Uighur nationality in Xinjiang of China].
Yu Q et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007
[Mutation of GJB2 gene in nonsyndromic hearing impairment patients: analysis of 1190 cases].
Yu F et al.
Zhonghua Yi Xue Za Zhi, 2007
[Identification of BIGH3 gene mutations in the patients with two types of corneal dystrophies].
Jin T et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
[Mutation analysis of fibroblast growth factor receptor 3 gene in an achondroplasia family].
Zhu B et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2003
[Study on gamma-synuclein gene in patients with idiopathic Parkinson's disease].
Su JJ et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2003
[A novel member of SH(2) signaling protein family: cloning and characterization of SH(2)A gene].
Dai S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2002
[An extensive matrilineal nonsyndromic sensorineural deafness family and mtDNA 12SrRNA gene mutation].
Yan M et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 1999
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A et al.
Ear and Hearing, 0