نتایج جستجو برای: hereditary hearing loss
تعداد نتایج: 562756 فیلتر نتایج به سال:
Introduction: Hearing is one of the dominant senses of humans. In fact, human beings learn the language which is spoken in their environment and, then, develop the capability to speak. Cochlear implantation is introduced worldwide as a method for the treatment of the severe-to-profound sensory-neural hearing loss. Therefore, the present study aims to investigate the effect of cochlear implantat...
The aim of this review is to provide an updated overview of hereditary hearing loss, with special attention to the etiological diagnosis of sensorineural hearing loss, the genes most frequently mutated in our environment, the techniques available for their analysis and the clinical implications of genetic diagnosis. More than 60% of childhood sensorineural hearing loss is genetic. In adults, th...
The aim of this review is to provide an updated overview of hereditary hearing loss, with special attention to the etiological diagnosis of sensorineural hearing loss, the genes most frequently mutated in our environment, the techniques available for their analysis and the clinical implications of genetic diagnosis. More than 60% of childhood sensorineural hearing loss is genetic. In adults, th...
Introduction: Hearing loss is the most common sensory neural defect in humans, affecting 1 in 1000 neonates, with over half of these cases predicted to be hereditary in nature. Most hereditary hearing loss is inherited in a recessive fashion, accounting for approximately 80 % of non-syndromic hearing loss (NSHL). Mutations in GJB2 gene are major cause of inherited deafness in the European an...
Objectives: The prevalence of consanguineous marriage is about 30 % in Iran and this can increase the probability of incidence of genetic impairments such as hearing impairments. Hearing impairment in comparison with other hereditary disorders is the most incident. The purpose of this survey is to identify the prevalence of consanguinity among the parents of sensoryneural hearing impaired stude...
The TECTA gene, which encodes alpha-tectorin, is known as a causative gene for DFNA8/DFNA12, and DFNB21 hearing loss in humans. In the present study, mutation analysis of the TECTA gene was performed in 62 Korean patients with hereditary hearing loss. Two novel nucleotide substitutions, p.V317E and p.T1866M, were identified for the first time in the Korean population. These mutations result in ...
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