Disease: Enlarged vestibular aqueduct syndrome
- <em>Correction 2:</em> A common <em>SLC26A4</em>-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct
- <em>SLC26A4</em> Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management
- 3D-real IR MRI detects serendipity of inner ear in enlarged vestibular aqueduct syndrome
- A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct
- A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family
- A novel method of identifying inner ear malformation types by pattern recognition in the mid modiolar section
- A novel mutation in the SLC26A4 gene in a Chinese family with non-syndromic hearing loss and enlarged vestibular aqueduct
- A novel three-step process for the identification of inner ear malformation types
- A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4
- Absence of Endolymphatic Sac Ion Transport Proteins in Large Vestibular Aqueduct Syndrome-A Human Temporal Bone Study
- An analysis of the mutation in GJB2，GJB3，SLC26A4 and mtDNA12SrRNA in new born
- Analysis of 59 cases of large vestibular aqueduct syndrome <em>SLC26A4</em>gene mutation frequency and new mutation sites
- Analysis of 59 cases of large vestibular aqueduct syndrome SLC26A4gene mutation frequency and new mutation sites
- Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies
- Analysis of the vestibular aqueduct development on the risk for suffering from idiopathic sudden sensorineural hearing loss
- Applications of visualizing cochlear basal turn in cochlear implantation
- Assessing the clinical utility of volumetric HRCT in pediatric enlarged vestibular aqueduct related hearing loss
- Association of Ear Anomalies and Hearing Loss Among Children With 22q11.2 Deletion Syndrome
- Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA
- Atypical Presentation of Enlarged Vestibular Aqueducts Caused by <em>SLC26A4</em> Variants
- Auditory Detection Thresholds and Cochlear Resistivity Differ Between Pediatric Cochlear Implant Listeners With Enlarged Vestibular Aqueduct and Those With Connexin-26 Mutations
- Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report
- Biomechanical analysis of the clinical characteristics of enlarged vestibular aqueduct syndrome with Mondini malformation
- Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct
- Bone-Conducted oVEMP Latency Delays Assist in the Differential Diagnosis of Large Air-Conducted oVEMP Amplitudes
- Clinical analysis of 54 patients with non-syndromic enlarged vestibular aqueduct
- Clinical and diagnostic criteria and differential diagnosis in the first and second stages of the development of Ménière's disease - A modern view of the problem
- Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts
- Clinical features and temporal CT findings in patients with Branchio-Oto-Renal or Branchio-Oto Syndrome
- Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
- Cochlear and Vestibular Volumes in Inner Ear Malformations
- 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
- Comparative Analysis of CT and MRI Diagnosis of Large Vestibular Aqueduct Syndrome (LVAS) in Children
- Complex Phenotypic Presentation of Syndromic Hearing Loss Deciphered as Three Separate Clinical Entities: How Genetic Testing Guides Final Diagnosis
- Correction: <em>A common</em> SLC26A4<em>-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct</em>
- Correlation Between Air-Bone Gap and Vestibular Aqueduct Size in Enlarged Vestibular Aqueduct Syndrome: A Systematic Review
- De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness
- Diagnostic Value of 3D Segmentation in Understanding the Anatomy of Human Inner Ear Including Malformation Types
- Difference of <em>SLC26A4</em> gene mutation frequency between patients with large vestibular aqueduct syndrome and/or Mondini dysplasia
- Difference of SLC26A4 gene mutation frequency between patients with large vestibular aqueduct syndrome and/or Mondini dysplasia
- Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome
- 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 Syndrome: Sudden Hearing Loss in a Child with a Cerebral Shunt
- Enlarged vestibular aqueduct: Audiological and genetical features in children and adolescents
- Enlarged Vestibular Aqueduct: Disease Characterization and Exploration of Potential Prognostic Factors for Cochlear Implantation
- Evidence of vestibular dysfunction in children with enlarged vestibular aqueduct
- Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria
- Gene therapy for hereditary hearing loss by SLC26A4 mutations in mice reveals distinct functional roles of pendrin in normal hearing
- Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss
- Genetic contribution to vestibular diseases
- Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review
- Genetics of vestibular syndromes
- Genotype and clinical phenotype analysis of 42 patients with delayed nonsyndromic hearing loss
- Hearing eyeball and/or eyelid movements on the side of a unilateral superior semicircular canal dehiscence
- Hearing loss in unilateral and bilateral enlarged vestibular aqueduct syndrome
- Hearing loss patterns in enlarged vestibular aqueduct syndrome: Do fluctuations have clinical significance?
- Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts
- Human Inner-ear Malformation Types Captured in 3D
- Identification of a novel mutation of SLC26A4 gene with enlarged vestibular aqueduct syndrome
- Imaging characteristics of patients with large vestibular aqueduct syndrome and its relationship with the acoustically evoked short latency negative response
- Incomplete partition type II in its various manifestations: isolated, in association with EVA, syndromic, and beyond; a multicentre international study
- Influence of Cochlear Implantation on Vestibular Function in Children With an Enlarged Vestibular Aqueduct
- Inner-Ear Disorders Presenting with Air-Bone Gaps: A Review
- Insidious Cases of Enlarged Vestibular Aqueduct (EVA) Syndrome Resembling Otosclerosis: Clinical Features for Differential Diagnosis and the Role of High-Resolution Computed Tomography in the Pre-Operative Setting
- Internal auditory canal volume in normal and malformed inner ears
- Investigating the significance of vestibular aqueduct pneumatization and pediatric hearing loss
- Investigation of DFNB4 SLC26A4 mutation in patients with enlarged vestibular aquaduct
- Is CT or MRI the optimal imaging investigation for the diagnosis of large vestibular aqueduct syndrome and large endolymphatic sac anomaly?
- Molecular characterization of autosomal recessive non syndromic hearing loss in selected families from District Mardan, Pakistan
- Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the <em>SLC26A4</em> gene: a case report and literature review
- Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the SLC26A4 gene: a case report and literature review
- Non-Syndromic Sensorineural Hearing Loss in Children
- Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome
- Otopathology in Kleefstra Syndrome: A Case Report
- Pendred syndrome
- Pendred syndrome with hyperthyroidism
- Port-wine stains associated with large vestibular aqueduct syndrome caused by mutations in GNAQ and SLC26A4 genes: A case report
- 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
- Rescue of mis-splicing of a common <em>SLC26A4</em> mutant associated with sensorineural hearing loss by antisense oligonucleotides
- Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders
- Round And Oval Window Reinforcement
- Round And Oval Window Reinforcement
- Selected Otologic Disorders Causing Dizziness
- SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct
- Targeted Next-Generation Sequencing Facilitates Genetic Diagnosis and Provides Novel Pathogenetic Insights into Deafness with Enlarged Vestibular Aqueduct
- The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation
- The Natural History of Hearing Loss in Pendred Syndrome and Non-Syndromic Enlarged Vestibular Aqueduct
- Third window lesions of the inner ear: A pictorial review
- Unilateral Enlarged Vestibular Aqueduct Syndrome and Bilateral Endolymphatic Hydrops
- Update on diagnostic procedures in third window syndromes. German version
- Utility of intraoperative computed tomography for cochlear implantation in patients with difficult anatomy
- Validation and analysis of Goldengate high-throughput deafness gene chip in detecting the patients with enlarged vestibular aqueduct syndrome
- Variability in Inner Ear Morphology Among a Family With Pendred Syndrome Due to a SLC26A4 Gene Variant
- Variations in the Size and Shape of Human Cochlear Malformation Types