Results 111 to 120 of about 8,863 (195)

The Study of SLC26A4 Gene Causing Autosomal Recessive Hearing Loss by Linkage Analysis in a Cohort of Iranian Populations. [PDF]

, 2014
Sensorineural non-syndromic hearing loss is the most common disorder which affects 1 in 500 newborns. Hearing loss is an extremely heterogeneous defect with more than 100 loci identified to date.
Ahmadian, Shahla., Hashemzadeh-Chaleshtori, Morteza., Parchami Barjui, Shahrbanoo., Porjafari, Hamid., Reiisi, Salimeh., Reiisi, Somayeh., Sanati, Mohammad Hossein., Shahi, Heshmat., Shavarzi, Afsaneh., Tabatabaiefar, Mohammad Amin.   +9 more
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A novel TECTA mutation causes ARNSHL [PDF]

, 2017
Objective Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder. Alpha-tectorin, which is encoded by the TECTA gene, is a non-collagenous component of the tectorial membrane in the inner ear defect ...
Abdollahnejad, Fatemeh., Asgharzadeh, Samira., Ghahremani, Mohammad Hossein., Hashemzadeh Chaleshtori, Morteza., Modarressi, Mohammad Hossein., Reiisi, Somayeh., Tabatabaiefar, Mohammad Amin., Tahmasebi, Parisa.   +7 more
core   +1 more source

Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation

Stem Cell Research, 2019
SLC26A4 is the second most frequent gene implicated in congenital hearing loss after GJB2 mutations. Here, we report the generation of induced pluripotent stem cells (iPSCs), from a patient who was carrying a homozygous c.919-2A>G variant in the SLC26A4 ...
Yen-Fu Cheng, Yen-Hui Chan, Chin-Ju Hu, Ying-Chang Lu, Tsubasa Saeki, Makoto Hosoya, Chika Saegusa, Masato Fujioka, Hideyuki Okano, Shih-Ming Weng, Chuan-Jen Hsu, Kuo-Hsuan Chang, Chen-Chi Wu   +12 more
doaj   +1 more source

Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants

Scientific Reports
To investigate the association between hereditary hearing loss and vestibular function, we compared vestibular function and symptoms among patients with GJB2, SLC26A4, and CDH23 variants.
Keita Tsukada, Shin-ya Nishio, Yutaka Takumi, Shin-ichi Usami   +3 more
doaj   +1 more source

Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort

BMC Research Notes, 2018
Objective Hereditary hearing loss (HL) is the most common sensorineural disorder in humans. Besides mutations in GJB2 and GJB6 genes, pathogenic variants in the SLC26A4 gene have been reported as a cause of hereditary HL due to its role in the physiology
Simone da Costa e Silva Carvalho, Carlos Henrique Paiva Grangeiro, Clarissa Gondim Picanço-Albuquerque, Thaís Oliveira dos Anjos, Greice Andreotti De Molfetta, Wilson Araujo Silva, Victor Evangelista de Faria Ferraz   +6 more
doaj   +1 more source

Illumina sequencing of 15 deafness genes using fragmented amplicons [PDF]

, 2014
BACKGROUND: Resequencing of deafness related genes using GS FLX massive parallel sequencing of PCR amplicons spanning selected genes has previously been reported as a successful strategy to discover causal variants.
Coucke, Paul, De Keulenaer, Sarah, De Schrijver, Joachim, Deforce, Dieter, Van Criekinge, Wim, Van Nieuwerburgh, Filip, Vandesompele, Jo   +6 more
core   +1 more source

Mutation screening of exons 7 and 13 of the TMC1 gene in autosomal recessive non-syndromic hearing loss (ARNSHL) in Iran [PDF]

, 2016
Mutation screening of exons 7 and 13 of ...
Abolhasani, Marziyeh., Ghasemi-Dehkordi, Payam., Hashemzadeh-Chaleshtori, Morteza., Heibati, Fatemeh., Moradipour, Negar., Parchami Barjui, Shahrbanoo., Rashki, Ahmad.   +6 more
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Familial pattern of large vestibular aqueduct syndrome in a Chinese family [PDF]

, 2013
Large Vestibular Aqueduct Syndrome (LVAS) is the most common radiographic malformation in children with early onset of hearing loss. Usually its occurrence is non-familial, however intriguingly a portion of patients with LVAS is found to have evidence ...
Ab Aziz, A, Asma, A, Hazmi, M
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Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China

Journal of Translational Medicine, 2009
Background Every year, 30,000 babies are born with congenital hearing impairment in China. The molecular etiology of hearing impairment in the Chinese population has not been investigated thoroughly.
Kang Dongyang, Yu Fei, Wang Qiang, Wang Yong, Cui Jinghong, Huang Deliang, You Yiwen, Yuan Yongyi, Yuan Huijun, Han Dongyi, Dai Pu   +10 more
doaj   +1 more source

Strategies for genetic study of hearing loss in the \ud Brazilian northeastern region [PDF]

The overall aim of this study was to estimate the contribution of genetic factors to the etiology of hearing loss (HL) in two counties in the Brazilian northeastern region.
Andrade, Wagner T., Cavalcanti, Hannalice G., Dantas, Vítor de Góes Lima, Melo, Uirá Souto, Netto, Regina Celia Mingroni, Rosa, Marine R. D., Santos, Silvana   +6 more
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