Results 191 to 195 of about 8,863 (195)

[Investigation of SLC26A4 mutations associated with inner ear malformations].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery, 2012
To study the molecular pathogenesis of SLC26A4 mutations associated with inner ear malformations including large vestibular aqueduct syndrome (LVAS), Mondini dysplasia and inner ear malformations but not accompanied with LVAS.DNA sample and clinical material were obtained from 14 sporadic LVAS probands, six Mondini dysplasia probands and seven inner ...
Qingwen, Zhu, Wen, Zang, Yongyi, Yuan, Haixia, Han, Xiqin, Zhang, Xinxia, Jiang, Xiumin, Ren, Caihong, Feng, Hong, Lu   +8 more
openaire   +1 more source

Molecular analysis of SLC26A4 gene in a Chinese deafness family.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2009
To identify the pathogenic gene for a non-syndromic hearing loss family.Mutation analysis was carried out by polymerase chain reaction and direct sequencing of all exons of SLC26A4 (solute carrier family 26, member 4) gene.Compound heterozygous mutations N392Y and S448X were detected in the proband of the family, heterozygous mutation S448X was ...
Hao, Hu, De-sheng, Liang, Ling-qian, Wu, Yong, Feng, Fang, Cai, Kun, Xia, Qian, Pan, Zhi-gao, Long, He-ping, Dai, Jia-hui, Xia   +9 more
openaire   +1 more source

Two Cases of Large Vestibular Aqueduct Syndrome with SLC26A4 Mutations

Practica Oto-Rhino-Laryngologica, 2009
Hiroshi Nakanishi, Satoshi Iwasaki, Atsushi Imai, Risako Hayashi, Kunihiro Mizuta, Hiroyuki Mineta   +5 more
openaire   +1 more source

Expression of SLC26A4/pendrin in ameloblasts

European Journal of Oral Sciences, 2012
openaire   +2 more sources

Prenatal Diagnosis of SLC26A4 Mutation and Delayed Onset of Hearing Loss

Otolaryngology–Head and Neck Surgery, 2013
Ayaka J, Iwata, Janet, Dunnell, Susan J, Norton, Kathleen C Y, Sie   +3 more
openaire   +2 more sources