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A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13–16.1
Otosclerosis is a common form of hearing impairment among white adults with a prevalence of 0.3–0.4%. It is caused by abnormal bone homeostasis of the otic capsule that compromises free motion of theExpand
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Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9)
Non-syndromic hearing impairment (NSHI) is a very heterogeneous disorder, both clinically and genetically, and can be inherited in a dominant, recessive or mitochondrial fashion. To date, over 50Expand
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Single-Stage Mastoid Obliteration in Cholesteatoma Surgery and Recurrent and Residual Disease Rates: A Systematic Review
Importance The ideal surgical treatment of cholesteatoma has been subject to discussion for years because both traditional surgical techniques (canal wall down [CWD] and canal wall up [CWU]Expand
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Phenotype Description of a Novel DFNA9/COCH Mutation, I109T
Objectives: This is a report of the audiological and vestibular characteristics of a Dutch DFNA9 family with a novel mutation, I109T, in the LCCL domain of COCH. Methods: From the family with theExpand
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Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.
OBJECTIVE To report on the audiometric characteristics of a large Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3 (OMIM 602460). DESIGN Clinical investigation. SETTINGExpand
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Antiactin-Targeted Immunoliposomes Ameliorate Tissue Plasminogen Activator-Induced Hemorrhage after Focal Embolic Stroke
Thrombolytic stroke therapy with tissue plasminogen activator (tPA) is limited by serious risks of intracerebral hemorrhage. In this study, the authors show that a novel antiactin-targetedExpand
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Clinical Characteristics of a Dutch DFNA9 Family with a Novel COCH Mutation, G87W
The present study aims to report audiological and vestibular characteristics of a Dutch DFNA9 family with a novel mutation, G87W, in the LCCL domain of COCH. From the family with the novel G87W COCHExpand
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Flat Threshold and Mid-Frequency Hearing Impairment in a Dutch DFNA8/12 Family with a Novel Mutation in TECTA
A novel TECTA mutation (c.5331G>A) was identified affecting α-tectorin just N-terminally of the zona pellucida domain in a Dutch family with nonsyndromic autosomal dominant sensorineural hearingExpand
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Vestibular Impairment in a Dutch DFNA15 Family with an L289F Mutation in POU4F3
Vestibular examination (electronystagmography with rotatory chair and caloric tests) was performed on 18 carriers and 1 phenocopy carrier in a Dutch family with autosomal dominant nonsyndromicExpand
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