Results 61 to 70 of about 675 (134)

Frequency of GJB2 mutations, GJB6‐D13S1830 and GJB6‐D13S1854 deletions among patients with non‐syndromic hearing loss from the central region of Iran

Molecular Genetics & Genomic Medicine, 2019
Background In the present study, we investigate the prevalence of the GJB2 gene mutations, and deletions in the GJB6 gene, namely del (GJB6‐D13S1830) and del (GJB6‐D13S1854), in patients with autosomal recessive non‐syndromic hearing loss (ARNSHL) from ...
Hossein Naddafnia, Zahra Noormohammadi, Shiva Irani, Iman Salahshoorifar   +3 more
doaj   +1 more source

GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder

Genetics and Molecular Biology, 2019
Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous neurosensory disorder, usually characterized by congenital or prelingual hearing loss.
Hong Xia, Xiangjun Huang, Hongbo Xu, Yong-an Zhou, Lina Gong, Zhijian Yang, Jingyan Lv, Hao Deng   +7 more
doaj   +1 more source

Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder

Frontiers in Genetics, 2017
Sensorineural hearing loss (SNHL) is a heterogeneous family of hearing disabilities with congenital (including genetic) as well as acquired etiology. Congenital SNHL of genetic etiology is further sub-divided into autosomal dominant, autosomal recessive ...
Jernej Kovač, Gašper Klančar, Katarina Trebušak Podkrajšek, Katarina Trebušak Podkrajšek, Saba Battelino, Saba Battelino   +5 more
doaj   +1 more source

Relative frequency of 35delG mutation in GJB2 gene in autosomal recessive non-syndromic hearing loss (ARNSHL) patients in Kerman population [PDF]

, 2004
Congenital hearing loss with many genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2 (Gap junction beta-2) gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive ...
Bazaz Zadegan N, Mir Hosseini N, Ziaaddini H, Asadi AR, Kahrizi,
core  

Table_2_Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear Families.xlsx

, 2019
Autosomal recessive non-syndromic hearing loss (ARNSHL) is a highly heterogeneous disease involving more than 70 pathogenic genes. However, most ARNSHL families have small-sized pedigrees with limited genetic information, rendering challenges for the ...
Yong Feng (828176), Jie Ling (381425), Jie Wen (121424), Xianlin Liu (6986180), Shushan Sang (6986174), Xinzhang Cai (3595121), Jing Liu (38537), Yalan Liu (828170), Hongsheng Chen (828171), Xuezhong Liu (753908), Taoxi Li (6986177), Chufeng He (828173), Wu Li (283210), Lingyun Mei (828172), Meng Li (79487)   +14 more
core   +1 more source

Mutation analysis of GJB2 and GJB6 genes and screening of nine common dfnb loci in iranian pedigrees with autosomal recessive nonsyndromic hearing loss

, 2019
Background: Hearing loss (HL) is one of the most common sensory disorders (1/1000). Various studies have shown that a large proportion of autosomal recessive nonsyndromic HL (ARNSHL) in Iranian populations is caused by defects in a certain number of ...
Bahrami, Tayyeb, Koohiyan, Mahbobeh, Shirzad, Maryam, Farrokhi, Effat, Tabatabaiefar, MohammadAmin, Azadegan-Dehkordi, Fatemeh, Pourpaknia, Reza, Hashemzadeh-Chaleshtori, Morteza, Yazdanpanahi, Nasrin   +8 more
core   +1 more source

Table_1_Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear Families.xlsx

, 2019
Autosomal recessive non-syndromic hearing loss (ARNSHL) is a highly heterogeneous disease involving more than 70 pathogenic genes. However, most ARNSHL families have small-sized pedigrees with limited genetic information, rendering challenges for the ...
Yong Feng (828176), Jie Ling (381425), Jie Wen (121424), Xianlin Liu (6986180), Shushan Sang (6986174), Xinzhang Cai (3595121), Jing Liu (38537), Yalan Liu (828170), Hongsheng Chen (828171), Xuezhong Liu (753908), Taoxi Li (6986177), Chufeng He (828173), Wu Li (283210), Lingyun Mei (828172), Meng Li (79487)   +14 more
core   +1 more source

Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran [PDF]

, 2018
Background and Objectives: : Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2).
Hashemzadeh-Chaleshtori, M, Azadegan-Dehkordi, F, Karbasi, G, Bahrami, T, Shirzad, M, Farrokhi, E, Yazdanpanahi, N, Koohiyan, M, Tabatabaiefar, M   +8 more
core   +1 more source

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

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   +1 more source

Genetic Linkage Analysis of DFNB4, DFNB28, DFNB93 Loci in Autosomal Recessive Non-syndromic Hearing Loss: Evidence for Digenic Inheritance in GJB2 and GJB3 Mutations

Iranian Journal of Public Health, 2017
Background: Autosomal recessive non-syndromic hearing loss (ARNSHL) a most frequent hereditary type of hearing impairment, exhibit tremendous genetic heterogeneity.
Marzieh NASERI, Masoud AKBARZADEHLALEH, Marjan MASOUDI, Najmeh AHANGARI, Ali Akbar POURSADEGH ZONOUZI, Ahmad POURSADEGH ZONOUZI, Leila SHAMS, Azim NEJATIZADEH   +7 more
doaj