Associated Papers
Bilateral Enlarged Vestibular Aqueduct: Auditory, Genetic and Radiological Characterization, and Benefits of Cochlear Implants.
Vigouroux A et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and review of the first 3 years.
Kernohan KD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Functional Studies of Deafness-Associated Pendrin and Prestin Variants.
Takahashi S et al.
International Journal of Molecular Sciences, 2024
Functional studies of deafness-associated pendrin and prestin variants.
Takahashi S et al.
Biorxiv : the Preprint Server for Biology, 2024
Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.
Liu Q et al.
Nature Communications, 2023
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
Carlson RJ et al.
Jama Otolaryngology-- Head & Neck Surgery, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Molecular Features of SLC26A4 Common Variant p.L117F.
Matulevičius A et al.
Journal of Clinical Medicine, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Atypical Presentation of Enlarged Vestibular Aqueducts Caused by SLC26A4 Variants.
Byun JC et al.
Children (basel, Switzerland), 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns.
Yang H et al.
Bmc Medical Genomics, 2021
Computational analysis of functional single nucleotide polymorphisms associated with SLC26A4 gene.
Hasnain MJU et al.
Plos One, 2020
A pathogenic variant in SLC26A4 is associated with Pendred syndrome in a consanguineous Iranian family.
Pourahmadiyan A et al.
International Journal of Audiology, 2019
Homology of pendrin, sodium-iodide symporter and apical iodide transporter.
Benvenga S et al.
Frontiers in Bioscience (landmark Edition), 2018
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
Molecular diagnostics for hereditary hearing loss in children.
Sommen M et al.
Expert Review of Molecular Diagnostics, 2017
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.
Bassot C et al.
Biochimie, 2017
[Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders].
Mironovich OL et al.
Genetika, 2017
Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.
Nicholas AK et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
A role for TENM1 mutations in congenital general anosmia.
Alkelai A et al.
Clinical Genetics, 2016
Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.
Muskett JA et al.
The Laryngoscope, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J 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
Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review.
Tsukada K et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
A systematic review of genetic studies of thyroid disorders in Taiwan.
Huang CJ et al.
Journal of the Chinese Medical Association : Jcma, 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
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
A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome.
Huang CJ et al.
International Journal of Pediatric Otorhinolaryngology, 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
SLC26A4 mutations in patients with moderate to severe hearing loss.
Khan MR et al.
Biochemical Genetics, 2013
[SLC26A4 mutations in a Chinese deafness family discovered by next-generation sequencing technology].
Mao J et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2012
Autosomal recessive nonsyndromic deafness genes: a review.
Duman D et al.
Frontiers in Bioscience (landmark Edition), 2012
Genetic mutations in non-syndromic deafness patients of Uyghur and Han Chinese ethnicities in Xinjiang, China: a comparative study.
Chen Y 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
Mis-trafficking of bicarbonate transporters: implications to human diseases.
Almomani EY et al.
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2011
[Common gene mutations study in Uyghur population with deafness in Kashgar region of Xinjiang].
Chen Y et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2011
Molecular and functional characterization of human pendrin and its allelic variants.
Dossena S et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2011
Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.
Mahdieh N et al.
Journal of Human Genetics, 2010
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
Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).
Pourová R et al.
Annals of Human Genetics, 2010
Genetics and phenomics of Pendred syndrome.
Bizhanova A et al.
Molecular and Cellular Endocrinology, 2010
Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.
Choi BY et al.
Genetic Testing and Molecular Biomarkers, 2009
Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome.
Dossena S et al.
Journal of Molecular Endocrinology, 2009
Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts.
Madeo AC et al.
Archives of Otolaryngology--head & Neck Surgery, 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