Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.
Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.
Sklenar M et al.
Molecular Medicine (cambridge, Mass.), 2025
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S6
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
Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies
Klarov LA et al.
International Journal of Molecular Sciences, 2022
Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia.
Chen X et al.
Frontiers in Genetics, 2021
34079577 (PubMed )
Supplement: Table_1.XLSX › Supplementary_table_1
Mutation profiling in eight cases of vagal paragangliomas.
Kudryavtseva AV et al.
Bmc Medical Genomics, 2020
32948195 (PubMed )
Supplement: 12920_2020_763_MOESM1_ESM.xls › Pat3
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
30245029 (PubMed )
Supplement: mmc2.xlsx › Table_S3
High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.
Makretskaya N et al.
Plos One, 2018
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.
Bassot C et al.
Biochimie, 2017
Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism.
Fu C et al.
Archives of Endocrinology and Metabolism, 2016
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
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.
Jonard L et al.
International Journal of Pediatric Otorhinolaryngology, 2010
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