Research By Disease – CheckOrphan

Disease: Enlarged vestibular aqueduct syndrome

Correction 2: A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct
SLC26A4 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 SLC26A4gene 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 SLC26A4 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: A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct
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 SLC26A4 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 SLC26A4 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 SLC26A4 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