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OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.
We have recently reported that OTOF underlies an autosomal recessive form of prelingual sensorineural deafness, DFNB9. The isolated 5-kb cDNA predicted a 1,230 amino acid (aa) C-terminusExpand
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Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9.
The authors had previously mapped a new locus-DFNA17, for nonsyndromic hereditary hearing impairment-to chromosome 22q12.2-q13. 3. DFNA17 spans a 17- to 23-cM region, and MYH9, a nonmuscle-myosinExpand
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A mutation in PDS causes non-syndromic recessive deafness
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Establishment of Normative Cochlear and Vestibular Measurements to Aid in the Diagnosis of Inner Ear Malformations
OBJECTIVE: We sought to establish normative measurements of the inner ear using computed tomography (CT) of the temporal bone to aid in the diagnosis of inner ear malformations. STUDY DESIGN ANDExpand
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Cochlear gene delivery through an intact round window membrane in mouse.
Cochlear gene transfer studies in animal models have utilized mainly two delivery methods: direct injection through the round window membrane (RWM) or intracochlear infusion through a cochleostomy.Expand
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Speech Perception Benefits of Sequential Bilateral Cochlear Implantation in Children and Adults: A Retrospective Analysis
Objective: To examine speech perception outcomes and determine the impact of length of deafness and time between implants on performance in the sequentially bilateral implanted population. StudyExpand
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Use of laboratory evaluation and radiologic imaging in the diagnostic evaluation of children with sensorineural hearing loss.
OBJECTIVE Laboratory testing and radiologic imaging are commonly used to delineate syndromic from nonsyndromic sensorineural HL (SNHL). The aim of this study was to examine the yield of laboratoryExpand
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Facial Nerve Outcome after Acoustic Neuroma Surgery: A Study from the Era of Cranial Nerve Monitoring
The introduction of intraoperative cranial nerve monitoring in posterior fossa surgery has greatly aided the surgeon in identification and anatomic preservation of cranial nerves. As a result, theExpand
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Cochlear implantation in Children with CHARGE syndrome: therapeutic decisions and outcomes.
OBJECTIVES Ear anomalies and deafness are associated with CHARGE syndrome, which also presents with a cluster of features including coloboma of the eye, heart defects, atresia of the choanae,Expand
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Development of the Jugular Bulb: A Radiologic Study
Objective: Jugular bulb (JB) abnormalities such as JB diverticulum and high-riding JBs of the temporal bone can erode into the inner ear and present with hearing loss, vestibular disturbance, andExpand
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