Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Riahi Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Genetic and clinical aspects of TMC1-related hearing loss in Iranian families: identification of two novel variants.
Ghalavand MA et al.
Molecular Biology Reports, 2025
Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population.
Kraatari-Tiri M et al.
International Journal of Audiology, 2025
Heterogeneous Group of Genetically Determined Auditory Neuropathy Spectrum Disorders.
Buianova AA et al.
International Journal of Molecular Sciences, 2024
Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss.
Zhuri D et al.
The Journal of International Advanced Otology, 2024
Heterozygous variants in transmembrane channel-like 1 gene cause autosomal recessive nonsyndromic hearing loss.
Zhang L et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2024
Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment.
Aboagye ET et al.
Genes, 2023
Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss.
Xiang J et al.
Bmc Medical Genomics, 2022
Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss.
Nishio SY et al.
Human Genetics, 2022
Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants.
Kraatari-Tiri M et al.
Journal of Clinical Medicine, 2022
Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.
Zardadi S et al.
Molecular Genetics & Genomic Medicine, 2020
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Ramzan K et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2020
Identification of four TMC1 variations in different Chinese families with hereditary hearing loss.
Wang H et al.
Molecular Genetics & Genomic Medicine, 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
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Bademci G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss.
Hu J et al.
Journal of Translational Medicine, 2016
A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.
Bakhchane A et al.
Gene, 2015
The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.
Yan D et al.
Genetic Testing and Molecular Biomarkers, 2015
Novel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese family.
Gao X et al.
Plos One, 2013
Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1.
de Heer AM et al.
Audiology & Neuro-otology, 2011
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.
Sirmaci A et al.
International Journal of Pediatric Otorhinolaryngology, 2009
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.
Hilgert N et al.
Clinical Genetics, 2008
Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan.
Kitajiri SI et al.
Clinical Genetics, 2007
Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.
Santos RL et al.
Human Mutation, 2005
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.
Kurima K et al.
Nature Genetics, 2002