نتایج جستجو برای: 35delg

تعداد نتایج: 148  

2017
Josef Finsterer Sinda Zarrouk-Mahjoub

Dear Editor: With interest we read the article by Ashrafi et al. about a 14-year-old female who is regarded to have developed Leigh syndrome (LS) after traumatic brain injury (TBI) (1). We have the following comments and concerns: We do not agree with the notion that traumatic brain injury was the precipitating factor for LS. The patient had a history of hypoacusis, which is a typical clinical ...

ژورنال: :مجله علمی دانشگاه علوم پزشکی قزوین 0
حبیب عنصری h. onsori

ناشنوایی یکی از شایع ترین بیماری های حسی- عصبی با فراوانی یک در هزار است. مهم ترین عامل ناشنوایی مادرزادی، جهش در ژن ( gjb2 (cx26 در جایگاه ژنی dfnb1 در موقعیت 13q12 است. این مطالعه به منظور تعیین نوع جهش های عامل ناشنوایی در ژن gjb2 در خانمی ۳۷ ساله با ناشنوایی کامل ارثی از نوع غیرسندرمی انجام شد. بررسی مولکولی وجود هتروزیگوسیتی ترکیبی (35delg/del120e) در ژن gjb2 را در فرد مبتلا نشان داد. بناب...

Masoumeh Falah Massoud Houshmand, Mohammad Farhadi, Saeid Mahmodian Susan Akbaroghli Yaser Ghavami

Objective(s) Despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the GJB2 gene. We aimed to characterize the mutation profiles of 100 Iranian deaf patients that were under 10 years old. Materials and Methods Patients were tested with direct sequencing of entire coding region of the GJB2 gene. Results Eight known mutations...

Journal: :iranian journal of basic medical sciences 0
masoumeh falah department and research center of ent & head and neck surgery of tehran university of medical sciences, tehran, iran massoud houshmand national institute for genetic engineering and biotechnology, tehran, iran susan akbaroghli tehran welfare organization, tehran, iran saeid mahmodian department and research center of ent & head and neck surgery of tehran university of medical sciences, tehran, iran yaser ghavami department and research center of ent & head and neck surgery of tehran university of medical sciences, tehran, iran mohammad farhadi department and research center of ent & head and neck surgery of tehran university of medical sciences, tehran, iran

objective(s) despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the gjb2 gene. we aimed to characterize the mutation profiles of 100 iranian deaf patients that were under 10 years old. materials and methods patients were tested with direct sequencing of entire coding region of the gjb2 gene. results eight known mutations plus...

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