Associated Papers
Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.
Yalcouyé A et al.
Hgg Advances, 2025
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.
Liu Q et al.
Nature Communications, 2023
A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.
Jian M et al.
Clinical and Translational Medicine, 2022
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
Smits JJ et al.
Human Genetics, 2022
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.
Florentine MM et al.
Human Genetics, 2022
A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.
Hu P et al.
Npj Genomic Medicine, 2022
A comprehensive and universal approach for embryo testing in patients with different genetic disorders.
Zhang S et al.
Clinical and Translational Medicine, 2021
Single gene variants causing deafness in Asian Indians.
Panigrahi I et al.
Journal of Genetics, 2021
Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.
Rapp C et al.
Biochimica Et Biophysica Acta. Biomembranes, 2017
A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.
Chattaraj P et al.
Journal of Medical Genetics, 2017
A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing.
Liu Y et al.
Plos One, 2016
Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
Lu YJ et al.
Medicine, 2015
Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.
Soh LM et al.
European Journal of Endocrinology, 2015
Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.
Ladsous M et al.
Thyroid : Official Journal of the American Thyroid Association, 2014
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.
Zhao J et al.
Plos One, 2014
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.
Rendtorff ND et al.
Clinical Genetics, 2013
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.
Landa P et al.
Bmc Medical Genetics, 2013
Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.
Huang S et al.
Journal of Translational Medicine, 2011
Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.
Chen N et al.
The Journal of Molecular Diagnostics : Jmd, 2011
Novel ATP6V1B1 mutations in distal renal tubular acidosis and hearing loss.
Yashima T et al.
Acta Oto-laryngologica, 2010
Two missense mutations in SLC26A4 gene: a molecular and functional study.
Rebeh IB et al.
Clinical Genetics, 2010
Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.
Choi BY et al.
Journal of Medical Genetics, 2009
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
Choi BY et al.
Human Mutation, 2009
The genetic bases for non-syndromic hearing loss among Chinese.
Ouyang XM et al.
Journal of Human Genetics, 2009
The responsible genes in Japanese deafness patients and clinical application using Invader assay.
Usami S et al.
Acta Oto-laryngologica, 2008
[Molecular genetic analysis of mitochondrial DNA C1494T mutation in non-syndromic hearing loss of Chinese population].
Tian G et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007
Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.
Hu H et al.
Journal of Human Genetics, 2007
Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.
Gardner P et al.
Pediatrics, 2006
Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness.
Shears D et al.
Clinical Genetics, 2004
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
Prasad S et al.
American Journal of Medical Genetics. Part A, 2004
[Pendred syndrome and nonsyndromic related deafness: a same entity?].
Wemeau JL et al.
Bulletin De L'academie Nationale De Medecine, 0