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Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India
Congenital hearing loss has been documented to occur in 1 of 1000 live births, with over half of these cases predicted to be hereditary in nature.1,2 Most hereditary hearing loss is inherited in aExpand
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Non-Syndromic Hearing Impairment in India: High Allelic Heterogeneity among Mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE
Mutations in the autosomal genes TMPRSS3, TMC1, USHIC, CDH23 and TMIE are known to cause hereditary hearing loss. To study the contribution of these genes to autosomal recessive, non-syndromicExpand
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Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss
In a study of 530 individuals with non-syndromic, sensorineural hearing loss, we identified 18 mutations at connexin 26 (Cx26), four of which are novel (−23G>T, I33T, 377_383dupTCCGCAT, W172R) andExpand
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Audiological, psychological and cognitive characteristics of tinnitus sufferers
Objective: Tinnitus is widespread amongst clients attending hearing clinics and has been associated with a range of physical and emotional disorders. This study was undertaken with the assumptionExpand
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A novel locus DFNA59 for autosomal dominant nonsyndromic hearing loss maps at chromosome 11p14.2–q12.3
Autosomal dominant nonsyndromic hearing loss (ADNSHL) accounts for about one-fifth of hereditary hearing loss in humans. In the present study, we have analyzed a three-generation family with 14 ofExpand
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Mutations in OTOF, CLDN14 & SLC26A4 genes as major causes of hearing impairment in Dhadkai village, Jammu & Kashmir, India
Background & objectives: A high incidence of hearing impairment is reported from the village of Dhadkai in the State of Jammu and Kashmir, India. Prevalence of endogamy in this community suggested aExpand
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Assistive Devices For The Hearing Impaired
I. INTRODUCTION Sound is an important source of information. Most face-to-face communication is by sound signals in the form of speech. However, persons who are deaf or hard of hearing may not beExpand
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Academic Achievement of Children with Normal Hearing Sensitivity and Children with Otitis Media with Mild and Moderate Conductive Hearing Impairment
A study of titled, “A Comparative Study of Academic Achievement of Children with Normal Hearing Sensitivity and Children with Otitis Media with Mild and Moderate Conductive Hearing Impairment” wasExpand
Implications in disclosing auditory genetic mutation to a family: A case study
The aim of the study is to understand the implications of disclosing the results of connexin26 (Cx26) gene testing to the concerned family with hearing impaired individuals. The department ofExpand