Results 81 to 90 of about 1,391 (157)

Identification of an ancestral haplotype of the 35delG mutation in the GJB2 (connexin 26) gene responsible for autosomal recessive non-syndromic hearing loss in families from the Eastern Black Sea Region in Turkey

The Turkish Journal of Pediatrics, 2005
Mutations in the GJB2 gene have been shown to be the major cause of autosomal recessively inherited, prelingual, non-syndromic hearing loss. 35delG was found to be the most frequent mutation among Caucasians.
Burcu Balci, Filiz Ozbaş Gerçeker, Songül Aksoy, Gonca Sennaroğlu, Ersan Kalay, Levent Sennaroğlu, Pervin Dinçer   +6 more
doaj  

The pathogenesis of common Gjb2 mutations associated with human hereditary deafness in mice. [PDF]

Cell Mol Life Sci, 2023
Li Q, Cui C, Liao R, Yin X, Wang D, Cheng Y, Huang B, Wang L, Yan M, Zhou J, Zhao J, Tang W, Wang Y, Wang X, Lv J, Li J, Li H, Shu Y.   +17 more
europepmc   +1 more source

Mutaciones del gen de la conexina 26 (GJB2) en familias cubanas con sorderas no sindrómicas autosómicas recesivas

Revista Cubana de Investigaciones Biomédicas, 2001
Las mutaciones del gen de la conexina 26 (locus DFNB1, en el brazo largo del cromosoma 13) dan cuenta de 60 % de las familias con sorderas neurosensoriales no sindrómicas autosómicas recesivas en poblaciones caucásicas.
Ibis<a href="#cargo"> </a> Menéndez, Ignacio del Castillo, Blanca Carrillo, Manuela Villamar, Maribel Ponce de León, Ana Uriarte, Felipe Moreno   +6 more
doaj  

Next-generation sequencing improves precision medicine in hearing loss. [PDF]

Front Genet, 2023
Imizcoz T, Prieto-Matos C, Manrique-Huarte R, Calavia D, Huarte A, Pruneda PC, Ordoñez GR, Cañada-Higueras E, Patiño-García A, Alkorta-Aranburu G, Manrique Rodríguez M.   +10 more
europepmc   +1 more source

Postnatal genetic umbilical cord analysis for earliest possible detection of inherited hearing impairment. [PDF]

Eur Arch Otorhinolaryngol, 2023
Ketterer MC, Birkenhäger R, Beck R, Arndt S, Aschendorff A, Kunze M.   +5 more
europepmc   +1 more source

Variability in noise susceptibility in a Swedish population: : The role of 35delG mutation in the connexin 26 (GJB2) gene

, 2004
Although it seems that genetic factors can influcence individual susceptiblity to noise, still very little is known about the genes or the mechanisms involved.
Grip, Lars, Bondeson, Marie-Louise, Dahl, Niklas, Borg, Erik, Bondeson, Marie-Louise,, Dahl, Niklas,, Carlsson, Per-Inge,, Carlsson, Per-Inge   +7 more
core   +1 more source

Connexin 26 (GJB2) Mutations Associated with Congenital Hearing Loss in a Country of Different Migration Routes: Turkey. [PDF]

Indian J Otolaryngol Head Neck Surg, 2023
Geden H, Seneldir L.
europepmc   +1 more source

GJB2 Mutations in Non Syndromic Hearing Loss in the Republic of Macedonia

Balkan Journal of Medical Genetics, 2009
Stefanovska E, Momirovska A, Cakar M, Efremov G   +3 more
doaj   +1 more source

Auditory Brainstem Responses In Gap Junction Beta 2 (Gjb2) 35Delg Mutation Carriers

, 2010
Objective: In the present study, the eight nerve and inner hair cells of the Gap Junction Beta 2 (GJB2) 35delG mutation carriers with normal hearing were evaluated by the Auditory Brainstem Response (ABR) technique.
Balci, Burcu, Kose, Aysen, Aksoy, Songul
core  

Screening of Autosomal Recessive Non-Syndromic Hearing Loss gor GJB2 Mutations

Journal of Rehabilitation, 2004
Objective: Hereditary Hearing loss (HHL) affects one in 1000-2000 newborns and more than 50% of these cases, the loss has a genetic basis. About 70% of HHL is non-syndromic with autosomal recessive forms accounting for ~85% of the genetic load.
Atefeh Khosh-Aeen, Fatemeh Pourfatemi, Kimia Kahrizi, Yaser Riaz-Alhosseini, Marziyeh Mohseni, Niloufar Bazzaz-Zadegan, Nooshin Nik-Zaat, Hossein Najm-Abadi   +7 more
doaj