Associated Papers
The Segregation of p.Arg68Ter-CLDN14 Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the GJB2 Gene.
Tlili A et al.
Genes, 2024
Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1.
Mohamad J et al.
American Journal of Medical Genetics. Part A, 2022
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Quaio CRAC et al.
Frontiers in Genetics, 2022
Genetic Epidemiology of Hearing Loss in the 22 Arab Countries: A Systematic Review.
Sidenna M et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020
Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations.
Seker M et al.
International Journal of Molecular Sciences, 2019
Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant.
Kitano T et al.
International Journal of Molecular Sciences, 2019
Genetic analysis of CLDN14 in the Chinese population affected with non-syndromic hearing loss.
Lu Y et al.
International Journal of Pediatric Otorhinolaryngology, 2018
Multiple claudin-claudin cis interfaces are required for tight junction strand formation and inherent flexibility.
Zhao J et al.
Communications Biology, 2018
A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.
Pater JA et al.
Human Genetics, 2017
The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.
Yan D et al.
Genetic Testing and Molecular Biomarkers, 2015
Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss.
Charif M et al.
Gene, 2013
Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss.
Charif M et al.
Indian Journal of Human Genetics, 2013
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.
Bashir ZE et al.
Journal of Human Genetics, 2013
The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population.
Charif M et al.
Molecular Biology Reports, 2012
Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.
Lee K et al.
American Journal of Medical Genetics. Part A, 2012
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