Hearing Loss and Deafness
Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes
... with hearing status at the genome-wide significance level: GRM7 [12], PCDH20 and SLC28A3 [13], and ISG20 or ACAN and TRIOBP ...gressive hearing loss with post-lingual onset, including in middle-age, ...
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Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform
... 15 deafness genes to recessive hearing loss in this specific popula- tion, data which is currently ...of deafness cases caused by non-genetic ...
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Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3
... to hearing loss, an array CGH was ordered, which is how the homozy- gous deletion of ...only deafness, would not have an array CGH ...to hearing loss; however these individuals are most ...
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A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype phenotype review of EYA4 in deafness
... EYA4 is not a frequent gene in ADNSHL, versus other reported genes. To date, six families have been identified with ADNSHL linked to the DFNA10 locus (Figure 1 and Table 2). In 1996, O’Neill et al. [3] reported results ...
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Deafness: Ever Heard of It? Delayed Recognition of Permanent Hearing Loss
... screening by physicians among the very patients who need it most: infants at risk for congenital or perinatally acquired deafness, toddlers with delayed speech, and children with coexist[r] ...
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Hearing Impairments in Consanguineous Marriage
... Many authors have suggested that approx- imately one half of sensory neural hearing loss in children can be attributed to heredi- tary causes (6). In this study hereditary deafness accounted for 62.9 ...
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Insights into the role of connexin26 and connexin30 in skin health, syndromic disease, and cutaneous wound healing
... with deafness can present with focal keratoderma on volar skin (Avshalumova et ...disease, hearing impairments, or both, and some mutations lead to more profound disease than others (Lee and White, ...and ...
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A case report on Lassa fever and hearing loss: A rare occurrence and review of the literature
... This case has shown the transmission of Lassa virus infection to medical personnel in a person to person mode of transmission. The circumstance might suggest that it was acquired in the community; this could be from the ...
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STUDY OF COCHLEAR CELLS ABNORMALITIES IN CHILDREN; ITS CAUSES AND MANAGEMENT IN PAKISTANI POPULATION
... for deafness. If inner ear or auditory nerve is involved in causing deafness it is called sensory neural hearing ...of hearing loss vary in different regions of the ...for ...
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EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss
... First, we explored the possibility of mutations in GJB2 by Sanger sequencing of the non-coding exon and the single coding exon of this gene for each patient, and screened the patients for the common deletion reported in ...
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Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population
... inherited hearing loss in this population, we worked with West Bank schools for the deaf to identify children with prelingual, bilateral, severe to profound hearing loss not attributable to ...
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A “Tric” to tighten cell cell junctions in the cochlea for hearing
... mutation. Deafness appears to be caused either by an increase in the K + ion concentration around the basolateral surfaces of the outer hair cells or, alternatively, by an increase in small molecules such as ATP ...
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Cvejic, Dejan (2009): Congenital sensorineural deafness in client-owned pure-breed white cats. Dissertation, LMU München: Tierärztliche Fakultät
... sensorineural hearing loss and pigmentary abnormalities of the skin, hair, and eyes (READ and NEWTON, ...for deafness in cats, and many more genes with mutations known to result in human ...
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Review: Deaf mute or Deaf
... Hearing loss is a very common congenital disorder with about ...of hearing loss is classified as conductive, sensorineural, or mixed and either stable or ...with deafness have a genetic ...
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A study on association between thyroid disorders and sensorineural hearing loss
... 80% hearing loss in 20 patients with hypothyroidism when compared with randomly selected age and sex matched ...16 hearing loss patients 12 showed SNHL and 4 showed mixed hearing ...of ...
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Assessment of Hearing Status by Pure Tone Audiogram—An Institutional Study
... the hearing status of the study subjects in terms of degree and type of hearing loss, and establish the burden of this disability in the ...tive deafness and 42% have sensorineural ...
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Prevalence of Noise-induced Hearing Loss in Cotton Ginning Factories in Parakou, North Benin
... mandatory hearing loss prevention programs ...about hearing loss associated with noise in Benin [9, ...induced hearing loss (NIHL) in employees working at cotton ginning ...
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Review Article c-Ret-mediated hearing losses
... (early-onset) hearing loss. Thirty percent of them have syndromic hearing loss and the remaining 70% have non-syndromic hearing ...sensorineural deafness in Hirschsprung disease ...
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Prevalence of long-term health conditions in adults with autism: observational study of a whole country population
... Blindness/sight loss, deafness/hearing loss and physical disabilities may be more common in adults with autism than in other people, but most of the existing literature is drawn from ...
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INCLUSIVE EDUCATION FOR DISABLED CHILDREN Dr. Rekha Bharat Patil
... and Hearing Loss: Hearing impairment is defined by the Individuals with Disabilities Education Act (IDEA) as "an impairment in hearing, whether permanent or fluctuating, that adversely ...
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