Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India
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چکیده
منابع مشابه
The effect of cochlear implantation on the improvement of hearing performance in children suffering from profound hereditary and Non-hereditary hearing loss
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...
متن کامل[Hereditary hearing loss: genetic counselling].
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...
متن کاملHereditary Hearing Loss: Genetic Counselling
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...
متن کاملClinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations.
OBJECTIVES The aim of the study is to assess clinical characteristics of individuals with nonsyndromic sensorineural hearing loss (NSSNHL) with genetic mutations in GJB2 and/or GJB6. We describe and compare one group with biallelic mutations against a group of heterozygote mutation carriers. METHODS A total of 350 patients between the ages of 3 months and 80 years referred to a tertiary care ...
متن کاملSatisfaction with Hearing Aids Based on Technology and Style among Hearing Impaired Persons
Introduction: Hearing loss is one of the most disabling impairments. Using a hearing aid as an attempt to improve the hearing problem can positively affect the quality of life for these people. This research was aimed to assess satisfaction of hearing impaired patients with their hearing aids regarding the employed technology and style. Materials and Methods: This descriptive-analytic cross-s...
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ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2018
ISSN: 1471-2350
DOI: 10.1186/s12881-018-0609-6