Erratum to: Novel mutations in the connexin43 (GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss (original) (raw)
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment
M. Kanaan
Journal of Medical Genetics, 2005
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First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss
Gül Caner Mercan
Turkish Archives of Otorhinolaryngology, 2019
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Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment
M. Arbonés
Human Molecular Genetics, 2001
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A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss
Suna TOKGOZ-YILMAZ
The American Journal of Human Genetics, 2010
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The connexin30 A88V mutant reduces cochlear gap junction expression and confers long-term protection against hearing loss
Stephanie hulme
Journal of Cell Science, 2018
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Downregulation of Otospiralin, a Novel Inner Ear Protein, Causes Hair Cell Degeneration and Deafness
jean-luc puel
The Journal of Neuroscience, 2002
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Postlingual Hearing Loss as a Mitochondrial 3243A>G Mutation Phenotype
Agata Skórka
PLoS ONE, 2012
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Prevalence of Deafness-Associated Connexin-26 ( GJB2 ) and Connexin-30 ( GJB6 ) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily
Luciana Rigoli
Annals of Human Genetics, 2015
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A Simple Method of Screening for the Common Connexin-26 Gene 35delG Mutation in Nonsyndromic Neurosensory Autosomal Recessive Deafness
Miguel Fernandez-Burriel
Genetic Testing, 2003
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Screening forGJB2andGJB6gene mutations in patients from Campania region with sensorineural hearing loss
Annamaria Franze'
International Journal of Audiology, 2010
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A genotype-phenotype correlation for GJB2 (connexin 26) deafness
eva orzan
Journal of Medical Genetics, 2004
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Pathogenic effects of a novel mutation (c.664_681del) in KCNQ4 channels associated with auditory pathology
Dennis Drayna
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2011
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Connexin 26 deafness is not always congenital
eva orzan
International Journal of Pediatric Otorhinolaryngology, 2007
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A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression
Ángeles Mencia
Human Genetics, 2007
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Noncoding Mutations of HGF Are Associated with Nonsyndromic Hearing Loss, DFNB39
Robert Morell
The American Journal of Human Genetics, 2009
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The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment
eva orzan
Human Molecular Genetics, 2007
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Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene
Paul Heyning
European Journal of Human Genetics, 1999
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Hearing molecules: contributions from genetic deafness
David Ryugo
Cellular and Molecular Life Sciences, 2007
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A Second Gene for Otosclerosis, OTSC2, Maps to Chromosome 7q34-36
E. Offeciers
The American Journal of Human Genetics, 2001
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Novel mutations in the connexin43 (GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss
Shuan-yow Li
Human Genetics, 2010
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Mutations of ESRRB Encoding Estrogen-Related Receptor Beta Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB35
Muhammad Tariq
The American Journal of Human Genetics, 2008
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Gene Therapy for Human Sensorineural Hearing Loss
Lukas Landegger
Frontiers in Cellular Neuroscience
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Mutation Analysis of Familial GJB2 -Related Deafness in Iranian Azeri Turkish Patients
Mortaza Bonyadi
Genetic Testing and Molecular Biomarkers, 2009
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Pathogenetic role of the deafness-related M34T mutation of Cx26
Massimiliano Bicego
Human Molecular Genetics, 2006
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Diseases of the ear
Natalia Ivanikova
Disease Pathways, 2020
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