Associated Papers
A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts.
Wang S et al.
Molecular Genetics & Genomic Medicine, 2024
Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.
Liu Q et al.
Nature Communications, 2023
37230976 (PubMed )
Supplement: 41467_2023_38303_MOESM3_ESM.xlsx › Sheet1
Molecular genetic landscape of hereditary hearing loss in Pakistan.
Naz S
Human Genetics, 2022
Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort.
Khan A et al.
Molecular Genetics & Genomic Medicine, 2019
Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.
Wang R et al.
Genetic Testing and Molecular Biomarkers, 2017
A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct.
He X et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.
Bassot C et al.
Biochimie, 2017
Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
Lu YJ et al.
Medicine, 2015
26683941 (PubMed )
Supplement: medi-94-e2248-s002.xls › Sheet1
Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum.
Chen K et al.
Journal of Translational Medicine, 2014
Genetic diagnosis and cochlear implantation for patients with nonsyndromic hearing loss and enlarged vestibular aqueduct.
Lai R et al.
The Journal of Laryngology and Otology, 2012
[An investigation of SLC26A4 gene mutation in nonsydromic hearing impairment in Hunan province of China].
Jiang L et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2010
[Genetic counseling and intervention for families with deaf-mute patients based on genetic testing: analysis of 5 families].
Dai P et al.
Zhonghua Yi Xue Za Zhi, 2007
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