Results 91 to 100 of about 1,391 (157)

The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia). [PDF]

Genes (Basel), 2023
Pshennikova VG, Teryutin FM, Cherdonova AM, Borisova TV, Solovyev AV, Romanov GP, Morozov IV, Bondar AA, Posukh OL, Fedorova SA, Barashkov NA.   +10 more
europepmc   +1 more source

A Novel Compound Heterozygous Mutation (35delg, 363delc) in the Connexin 26 Gene Causes Non-Syndromic Autosomal Recessive Hearing Loss

Acta Medica Iranica, 2014
Mutations in the Connexin 26 (Cx26) gene are a common cause of hereditary hearing loss in different populations. In the present study, an Iranian patient with bilateral hearing loss underwent molecular analysis for the causative mutation.
Habib Onsori, Mohammad Rahmati, Davood Fazli   +2 more
doaj  

中国东北地区非综合征性耳聋患者GJB2基因的致聋突变分析

Zhongguo shiyan zhenduanxue, 2006
目的分析58例中国东北地区非综合征性耳聋（nonsyndromic hearing impairment,NSHI）患儿GJB2基因突变类型和频率。方法收集吉林省吉林市聋哑学校的58例非综合征性耳聋患儿（分别来自57个家庭）及37例听力正常家属的血样,经聚合酶链反应（polymerase chain reaction,PCR）扩增GJB2基因编码区,用酶切方法初步分析已知的233-235位点,进一步行DNA测序证实酶切结果并发现新的突变类型;同时对部分家属进行DNA测序 ...
于飞, 戴朴, 曹菊阳, 康东洋, 刘新, 张昕, 李梅, 刘丽贤, 袁慧军, 杨伟炎, 吴柏林, 韩东一   +11 more
doaj  

Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population. [PDF]

PLoS One, 2023
Vallian Broojeni J, Kazemi A, Rezaei H, Vallian S.   +3 more
europepmc   +1 more source

Спектр мутаций ядерного локуса DFNB1 у пациентов с несиндромальной СНТ, жителей Беларуси

Фактори експериментальної еволюції організмів, 2015
Aims. The genetic nature of sensorineural hearing loss (SNHL) has so far been studied for many ethnic groups in various parts of the world. Among the different subtypes of autosomal recessive non-syndromic hearing impairment, DFNB1 locus is remarkable ...
О. А. Шубина-Олейник, М. Г. Синявская, А. М. Левая-Смоляк, Е. П. Меркулова, Н. Г. Даниленко   +4 more
doaj  

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia-Alania. [PDF]

PeerJ, 2023
Petrova N, Tebieva I, Kadyshev V, Getoeva Z, Balinova N, Marakhonov A, Vasilyeva T, Ginter E, Kutsev S, Zinchenko R.   +9 more
europepmc   +1 more source

Investıgatıon of the 35delg mutatıon ın the gjb2 (connexın 26) gene-related famıly ın Manısa and vıcınıty ın Turkey

, 2011
Günümüze kadar tüm popülasyonlarda yapılan çalışmalarda Connexin 26 (GJB2 ) genindeki mutasyonlar non sendromik otozomalresesif konjenital işitme kaybında önemli bir yere sahiptir.
Ali Vefa YÜCETÜRK, NURAY ALTINTAS, SEDA ÖRENAY BOYACIOĞLU   +2 more
core  

Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene. [PDF]

Genes (Basel), 2022
Riza AL, Alkhzouz C, Farcaș M, Pîrvu A, Miclea D, Mihuț G, Pleșea RM, Ștefan D, Drodar M, Lazăr C, On Behalf Of The Hint Study, On Behalf Of The Fuse Study, Ioana M, Popp R.   +13 more
europepmc   +1 more source

Prevalence of GJB2 gene mutations in nonsyndromic hearing impairments: A systematic review and meta-analysis. [PDF]

Medicine (Baltimore)
Feng R, Mangantig E, Wan Yusoff WSY, Li H, Li X, Abu MN.   +5 more
europepmc   +1 more source

Dispersed DNA variants underlie hearing loss in South Florida's minority population. [PDF]

Hum Genomics, 2023
Peart L, Gonzalez J, Morel Swols D, Duman D, Saridogan T, Ramzan M, Zafeer MF, Liu XZ, Eshraghi AA, Hoffer ME, Angeli SI, Bademci G, Blanton S, Smith C, Telischi FF, Tekin M.   +15 more
europepmc   +1 more source