Associated Papers
Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.
Pál M et al.
International Journal of Molecular Sciences, 2023
Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia.
Plevova P et al.
Medicina (kaunas, Lithuania), 2018
Searching for digenic inheritance in deaf Brazilian individuals using the multiplex ligation-dependent probe amplification technique.
da Silva-Costa SM et al.
Genetic Testing and Molecular Biomarkers, 2011
Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme.
Chinetti V et al.
International Journal of Audiology, 2011
Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.
Mahdieh N et al.
Journal of Human Genetics, 2010
GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods.
Bartsch O et al.
Audiology & Neuro-otology, 2010
GJB2 mutations in patients with nonsyndromic hearing loss from Croatia.
Sansović I et al.
Genetic Testing and Molecular Biomarkers, 2009
Gap-junction channels dysfunction in deafness and hearing loss.
Martínez AD et al.
Antioxidants & Redox Signaling, 2009
Genetics of congenital hearing impairment: a clinical approach.
Tranebaerg L
International Journal of Audiology, 2008
Molecular genetics study of deafness in Brazil: 8-year experience.
de Oliveira CA et al.
American Journal of Medical Genetics. Part A, 2007
High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria.
Ramsebner R et al.
Ear and Hearing, 2007
Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.
Bruzzone R et al.
Febs Letters, 2003
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
Thönnissen E et al.
Human Genetics, 2002
Connexin 26 mutations in cases of sensorineural deafness in eastern Austria.
Frei K et al.
European Journal of Human Genetics : Ejhg, 2002
Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).
Lin D et al.
Human Mutation, 2001