Results 161 to 170 of about 2,527,901 (173)

[Analysis of genotypes and audiological characteristics of children with SLC26A4 gene pathogenic mutations].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery, 2018
Objective:To explore the correlation of SLC26A4 genotype and audiology.Method:The subjects were 70 children aged 0 to 7 years old, who were admitted to otological outpatient department.All subjects received nine crystal hereditary deafness gene chip and confirmed by (or)SLC26A4 gene full coding region detection.The patients were diagnosed as homozygous
X L, Zhao, L H, Huang, X Y, Wang, Yt, DU, Xl, Wang, X H, Cheng, L P, Zhao, Y, Li   +7 more
openaire   +1 more source

Hypermethylation of the Pendred syndrome gene SLC26A4 is an early event in thyroid tumorigenesis.

Cancer research, 2003
Expression of the recently cloned Pendred syndrome gene SLC26A4 or PDS has been found to be decreased or even absent in various thyroid tumors. To explore the underlying mechanism, we conducted DNA sequencing and methylation-specific PCR studies in 64 primary thyroid tumors and 6 thyroid cell lines.
Mingzhao, Xing, Yutaka, Tokumaru, Guojun, Wu, William B, Westra, Paul W, Ladenson, David, Sidransky   +5 more
openaire   +1 more source

Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss

International Journal of Molecular Sciences, 2022
Valeriia Danilchenko, Marina Zytsar, Olga Posukh   +2 more
exaly  

[An investigation of SLC26A4 gene mutation in nonsydromic hearing impairment in Hunan province of China].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery, 2011
To determinate the occurring frequency and mutational hot spot in Hunan province.Blood samples was obtained from 96 patients with nonsydromic hearing impairment in Hunan province. PCR and DHPLC techniques were used to screening for all the 21exon of SLC26A4.
Lu, Jiang, Yong, Feng, Hongsheng, Chen, Chufeng, He, Lingyun, Mei   +4 more
openaire   +1 more source

The effect of SLC26A4 gene mutations on long-term rehabilitative outcomes in cochlear implant patients

Acta Oto-Laryngologica, 2023
Bai-Cheng Xu, Yu Fen Guo, Pan-pan Bian
exaly  

A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.

European Journal of Human Genetics, 2008
Manuela Villamar, Alejandra Pera, Antonio Viñuela   +2 more
exaly  

Two missense mutations in SLC26A4 gene: a molecular and functional study

Clinical Genetics, 2010
Bouthaina Hammami, Hammadi Ayadi
exaly  

Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct

Journal of Endocrinological Investigation, 2014
Fausto Bogazzi, Luigi Bartalena, Stefano Mariotti   +2 more
exaly  

Novel compound heterozygous mutations in SLC26A4 gene in a Chinese Han family with enlarged vestibular aqueduct

International Journal of Pediatric Otorhinolaryngology, 2016
Haibo Wang, Fengguo Zhang, Yun Xiao
exaly  

Genotype–phenotype correlations for SLC26A4-related deafness

Human Genetics, 2007
Tao Yang, Hela Azaiez, Richard J Smith
exaly