• <em>SLC26A4</em> Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management
• A knock-in mouse model of Pendred syndrome with Slc26a4 L236P mutation
• A pathogenic variant in <em>SLC26A4</em> is associated with Pendred syndrome in a consanguineous Iranian family
• A pathogenic variant in SLC26A4 is associated with Pendred syndrome in a consanguineous Iranian family
• A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4
• A Prospective Study of Genetic Variants in Infants with Congenital Unilateral Sensorineural Hearing Loss
• An iPSC line (TYWHSTi002-A) derived from a patient with Pendred syndrome caused by compound heterozygous mutations in the SLC26A4 gene
• Analysis of clinical characteristics of thyroid phenotype in Pendred syndrome based on multiple databases
• Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies
• Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA
• Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger
• Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report
• Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct
• Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais
• Case of delayed presentation of Pendred syndrome with a large goitre causing a life-threatening airway obstruction
• Case report: <em>De novo</em> pathogenic variant in <em>WFS1</em> causes Wolfram-like syndrome debuting with congenital bilateral deafness
• Case report: A case of <em>SLC26A4</em> mutations causing pendred syndrome and non-cystic fibrosis bronchiectasis
• Case report: A case of SLC26A4 mutations causing pendred syndrome and non-cystic fibrosis bronchiectasis
• Causes of hearing loss and implantation age in a cohort of Danish pediatric cochlear implant recipients
• Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts
• Clinical heterogeneity of the SLC26A4 gene in UAE patients with hearing loss and bioinformatics investigation of DFNB4/Pendred syndrome missense mutations
• Clinically-relevant Germline Variants in Children with Non-Medullary Thyroid Cancer
• Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs
• Cochlear Implantation in Children with Enlarged Vestibular Aqueduct: A Systematic Review of Surgical Implications and Outcomes
• Cochlear implantation in patients with Pendred syndrome
• Comprehensive analysis of syndromic hearing loss patients in Japan
• Computational analysis of functional single nucleotide polymorphisms associated with SLC26A4 gene
• Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes
• Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7
• Congenital hypothyroidism as the initial presentation of pendred syndrome associated with mutated IVS7-2A&gt;G in SLC26A4 gene in a Taiwanese neonate
• Congenital hypothyroidism as the initial presentation of pendred syndrome associated with mutated IVS7-2A>G in SLC26A4 gene in a Taiwanese neonate
• Custom Next-Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys
• Different Rates of the <em>SLC26A4</em>-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)
• Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome
• DNAJC14 Ameliorates Inner Ear Degeneration in the DFNB4 Mouse Model
• Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features
• Enlarged vestibular aqueduct as a cause of postneonatal deafness
• Enlarged vestibular aqueduct syndrome-dehiscence syndromes-honeycomb mastoid : Pathophysiology and evidence for clinical differentiation
• Enlarged Vestibular Aqueduct: Disease Characterization and Exploration of Potential Prognostic Factors for Cochlear Implantation
• Estimating the concentration of therapeutic range using disease-specific iPS cells: Low-dose rapamycin therapy for Pendred syndrome
• Evidence of vestibular dysfunction in children with enlarged vestibular aqueduct
• Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study
• Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation
• Follicular thyroid cancer in a patient with Pendred syndrome
• Functional Studies of Deafness-Associated Pendrin and Prestin Variants
• Gene therapy for hereditary hearing loss by SLC26A4 mutations in mice reveals distinct functional roles of pendrin in normal hearing
• Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A&gt;G splice-site mutation
• Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation
• Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss
• Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review
• Genetic etiology of hearing loss in Iran
• Genetic Hearing Loss Associated With Autoinflammation
• Genotype-Phenotype Correlation for Predicting Cochlear Implant Outcome: Current Challenges and Opportunities
• Hereditary hearing loss
• Histopathological Features of Pendred Syndrome Thyroids Align with Differences in the Expression of Thyroid-Specific Markers, Apical Iodide Transporters, and Ciliogenesis Process
• Hoffmann's Syndrome Secondary to Pendred Syndrome: A Rare Case
• Imaging Findings in Syndromes with Temporal Bone Abnormalities
• Incomplete partition type II in its various manifestations: isolated, in association with EVA, syndromic, and beyond; a multicentre international study
• Inhibiting SLC26A4 reverses cardiac hypertrophy in H9C2 cells and in rats
• Inner Ear Malformations in Congenital Deafness Are Not Associated with Increased Risk of Breech Presentation
• Insight into the Natural History of Pathogenic Variant c.919-2A&gt;G in the <em>SLC26A4</em> Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia)
• Interpreting pendred syndrome as a foetal hydrops: Clinical and animal model evidence
• Maternal UPD of chromosome 7 in a patient with Silver-Russell syndrome and Pendred syndrome
• Mechanism of anion exchange and small-molecule inhibition of pendrin
• Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis
• Molecular diagnose of a large hearing loss population from China by targeted genome sequencing
• Molecular diagnosis of <em>SLC26A4</em>-related hereditary hearing loss in a group of patients from two provinces of Iran
• Molecular Features of SLC26A4 Common Variant p.L117F
• Molecular genetic landscape of hereditary hearing loss in Pakistan
• Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss
• Novel small molecule-mediated restoration of the surface expression and anion exchange activity of mutated pendrin causing Pendred syndrome and DFNB4
• Outcomes of Cochlear Implantation in Patients with Pendred syndrome: A Systematic Review and Narrative Synthesis
• Pendred Syndrome
• Pendred Syndrome
• Pendred Syndrome with C Cell Hyperplasia
• Pendred syndrome with hyperthyroidism
• Pendred Syndrome, or Not Pendred Syndrome? That Is the Question
• Pendred's syndrome diagnosed in adulthood at the high resolution thyroid clinic
• Pendrin: linking acid base to blood pressure
• Quantitative analysis and correlative evaluation of video-oculography, micro-computed tomography, and histopathology in Pendrin-null mice
• Rapid Genetic Diagnosis for Okinawan Patients with Enlarged Vestibular Aqueduct Using Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip
• Receptive language acquisition in a pediatric population with Pendred syndrome and non-syndromic enlarged vestibular aqueduct
• Reclassification of Whole Exome Sequencing-derived Genetic Variants in Pendred Syndrome with ACMG/AMP Standards
• Rescue of mis-splicing of a common <em>SLC26A4</em> mutant associated with sensorineural hearing loss by antisense oligonucleotides
• Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features
• Single-cell RNA-sequencing of stria vascularis cells in the adult Slc26a4^-/- mouse
• SLC26A4 mutation in Pendred syndrome with hypokalemia: A case report
• SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct
• Solute Carrier Family 26 Member 4 (SLC26A4), A Potential Therapeutic Target for Asthma
• Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome
• Syndromic Hearing Loss in Children
• Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variants
• Targeted Next-Generation Sequencing Facilitates Genetic Diagnosis and Provides Novel Pathogenetic Insights into Deafness with Enlarged Vestibular Aqueduct
• The Natural History of Hearing Loss in Pendred Syndrome and Non-Syndromic Enlarged Vestibular Aqueduct
• TMED3 Complex Mediates ER Stress-Associated Secretion of CFTR, Pendrin, and SARS-CoV-2 Spike
• Toward the Pathogenicity of the <em>SLC26A4</em> p.C565Y Variant Using a Genetically Driven Mouse Model
• Transcriptomic Analysis Reveals an Altered Hcy Metabolism in the Stria Vascularis of the Pendred Syndrome Mouse Model
• Variability in Inner Ear Morphology Among a Family With Pendred Syndrome Due to a SLC26A4 Gene Variant
• Vestibular Function in Pendred Syndrome: Intact High Frequency VOR and Saccular Hypersensitivity
• Viewing Cortical Collecting Duct Function Through Phenotype-guided Single-Tubule Proteomics