نتایج جستجو برای: hereditary hearing loss

تعداد نتایج: 562756  

Journal: :Journal of Medical Genetics 1995

ژورنال: Hormozgan Medical Journal 2014
Hashemi, S.B. , Monshizadeh, L. , Norouzpour, H. , Rajaeefard, A.R. , Tabatabaee, H.R. ,

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...

2017
Rubén Cabanillas Farpón Juan Cadiñanos Bañales PALABRAS CLAVE

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...

Journal: :Acta otorrinolaringologica espanola 2012
Rubén Cabanillas Farpón Juan Cadiñanos Bañales

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...

ابهجی, مریم, اسمیت, ریچارد, بزاز زادگان, نیلوفر, جوان, محمد خلیل, خدایی, حسین, دهقانی, عاطفه, ریاض الحسینی, یاسر, سیفتی, مرتضی, مغنی باشی, مهدی, میراب, محمود, نجم آبادی, حسین, کهریزی, کیمیا,

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...

Mohammad Kamali, Seyyedeh Reyhaneh Amini,

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...

Journal: :Annals of clinical and laboratory science 2010
Borum Sagong Raekil Park Yee Hyuk Kim Kyu-Yup Lee Jeong-In Baek Hyun-Joo Cho In-Jee Cho Un-Kyung Kim Sang-Heun Lee

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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