Results 111 to 120 of about 8,250 (205)

Prevalence of GJB2-associated deafness and outcomes of cochlear implantation in Iran

, 2011
Objectives: To investigate the prevalence of mutations in the coding exon of the GJB2 gene in Iranian children with cochlear implants, and to compare the outcomes of auditory perception and speech production in cochlear-implanted children with and ...
Daneshi, A., Arzhangi, S., Farhadi, M., Najmabadi, H., Mohammadi, S.H., Hassanzadeh, S., Emamdjomeh, H.   +6 more
core  

A case report of non-syndromic sensorineural hearing loss with a compound heterozygous mutation (35delG/del120E) in the GJB2 gene

The Journal of Qazvin University of Medical Sciences, 2016
Hearing loss is one of the most common sensorineural disorders that occur in 1:1000. Mutation in the GJB2 (CX26) gene at the DFNB1 locus on chromosome 13q12 is the most important cause of congenital hearing loss.
H. Onsori
doaj  

Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss

Iranian Journal of Public Health, 2016
Background: Autosomal recessive non-syndromic hearing loss (ARNSHL) is the most common hereditary form of deafness, and exhibits a great deal of genetic heterogeneity.
Marjan MASOUDI, Najmeh AHANGARI, Ali Akbar POURSADEGH ZONOUZI, Ahmad POURSADEGH ZONOUZI, Azim NEJATIZADEH   +4 more
doaj  

Prevalence Study of GJB2 Gene Mutations in Iranian Ethnics

, 2007
Objective: Hereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding.
Yaser Riaz-el Hosseini, Yousef Shafeghati, Kimia Kahrizi, Sanaz Arzhangi, Niloufar Bazzaz-Zadegan, Khalil Javan, Khadijeh Jalalvand, Hosein Najmabadi, Noushin Nik-Zaat, Marzieh Mohseni   +9 more
core  

"Two Novel Mutations and Predominant 35delG Mutation in the Connexin 26 Gene (GJB2) in Iranian Populations"

Iranian Journal of Public Health, 2004
Mutations in the GJB2 gene encoding Connexin 26 (Cx26) protein are a major cause for autosomal recessive non syndromic and sporadic deafness in many populations.
"M Hashemzadeh Chaleshtori, M Dowlati, DD Farhud, L Hoghooghi Rad, R Sasanfar A Hoseinipour, M Montazer Zohour, A Tolooi, M Ghadami, HR Pourjafari, MA Oshaghi, MA Patton "   +10 more
doaj  

Rapid detection of the GJB2 c.235delC mutation based on CRISPR-Cas13a combined with lateral flow dipstick

Open Life Sciences
Deng Yueqin, Xu Juan, Yang Ming, Huang Yin, Yang Yifang   +4 more
doaj   +1 more source

Clinical application value of preconception and prenatal carrier screening in Yinchuan. [PDF]

Front Genet
Han H, Zhu X, Chai L, Ha Y, Zhao F, Pan L.   +5 more
europepmc   +1 more source

Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China. [PDF]

Front Genet
She Q, Ou HL, Tang EF, Huang W, Tan WH, Zeng ML, Pan XF, Liu CB.   +7 more
europepmc   +1 more source

Clinical and Genetic Characterization of Gap Junction Protein β-6 Variants in Non-Syndromic Hearing Loss: A Case Report with Familial Evaluation and <i>In Silico</i> Analyses. [PDF]

Iran J Med Sci
Zahedi Abghari F, Mohseni M, Esmaeilzadeh E, Ghasemi H, Khorram Khorshid HR, Najafipour R.   +5 more
europepmc   +1 more source

Exploring the Clinical and Psychosocial Impact of Genetic Diagnosis in Congenital Hearing Loss: A Comparative Study Between Syndromic and Non-Syndromic Conditions. [PDF]

Children (Basel)
Orzan E, Ceretta C, Bresciani G, Fantoni M, Michieletto P, Di Cesare T, Marchi R, Bonati MT, Feresin A.   +8 more
europepmc   +1 more source