نتایج جستجو برای: gjb2

تعداد نتایج: 990  

Journal: :Archives of otolaryngology--head & neck surgery 2010
Jane W Kimani Craig A Buchman Jessica K Booker Benjamin Y Huang Mauricio Castillo Cynthia M Powell Karen E Weck

OBJECTIVES To examine the incidence of congenital cytomegalovirus (CMV) infection relative to common genetic etiologies of hearing loss in a pediatric population with sensorineural hearing loss (SNHL), and to characterize intracranial radiological abnormalities in patients with CMV-associated hearing loss. DESIGN Retrospective study. SETTING Academic tertiary care center. PATIENTS A total...

2013
So Young Kim Gibeom Park Kyu-Hee Han Ahreum Kim Ja-Won Koo Sun O. Chang Seung Ha Oh Woong-Yang Park Byung Yoon Choi

A p.V37I variant of GJB2 has been reported from subjects with moderate or slight hearing loss especially in East Asian populations. This study aimed to estimate the prevalence of the p.V37I variant among such subjects and prove, epidemiologically, its pathogenic potential to cause mild hearing loss. A total of 380 subjects from 201 families with hearing loss were enrolled. From them, 103 famili...

Journal: :General physiology and biophysics 2003
G Minárik V Ferák E Feráková A Ficek H Poláková L Kádasi

Mutations in the GJB2 gene (connexin 26) represent a major cause of autosomal recessive non-syndromic hearing loss (NSHL) worldwide. In most Caucasian populations, the 35delG mutation in this gene was found to account for up to 50% of cases of the genetic non-syndromic childhood deafness. In populations of non-European ethnic background, other GJB2 gene mutations are occasionally common, e.g. 1...

Journal: :The journal of international advanced otology 2015
Sevcan Tuğ Bozdoğan Gökhan Kuran Özge Özalp Yüregir Hüseyin Aslan Süheyl Haytoğlu Akif Ayaz Osman Kürşat Arıkan

OBJECTIVE To date, studies in all populations showed that mutations in the gene of Gap junction protein beta 2 (GJB2) play an important role in non-syndromic autosomal recessive congenital hearing loss. The aim of this study was to evaluate GJB2 gene of patients with hearing loss in our region using deoxyribonucleic acid (DNA) sequencing method and to demonstrate region-specific mutation and po...

2014
Ralf Birkenhäger Nicola Prera Antje Aschendorff Roland Laszig Susan Arndt

To date, about 165 genetic loci or genes have been identified which are associated with nonsyndromal hearing impairment. In about half the cases, genetic defects in the GJB2 gene (connexin 26) are the most common cause of inner-ear deafness. The genes GJB2 and GJB6 are localized on chromosome 13q11-12 in tandem orientation. Connexins belong to the group of "gap junction" proteins, which form co...

2017
Hazem Kaheel Andreas Breß Mohamed A Hassan Aftab Ali Shah Mutaz Amin Yousuf H Y Bakhit Marlies Kniper

Background Hearing impairments (HI) are the most common birth defect worldwide. Very large numbers of genes have been identified but the most profound is GJB2. The clinical interest regarding this gene is very pronounced due to its high carrier frequency (0.5-5.4%) across different ethnic groups. This study aimed to determine the prevalence of common GJB2 mutations in Syrian patients with profo...

زمانی, محمد, دانشی, احمد, ریاض‌الحسینی, یاسر, ریحانی‌فر, فرحناز, نجم‌آبادی, حسین, کهریزی, کیمیا, محسنی, مرضیه ,

    Background & Aim: Hereditary hearing loss(HHL) affects one in 1000-2000 newborns and more than 50% of these cases have a genetic base. About 70% of HHL are nonsyndromic with autosomal recessive forms accounting for 85% of the genetic load. Different genes have been reported to be involved, but mutations in GJB2 gene at DFNB1 locus have been established as the basis of autosomal recessive no...

امانی, سروش, خوشدل, ابوالفضل , رهبریان , جهانبخش , سلیمانی, مهشید , شاهین فرد, نجمه , شیرمردی, سید ابوالفتح , فرخی, عفت , هاشم زاده, مرتضی , پروین, ندا , کثیری, محبوبه ,

چکیده: زمینه و هدف: ناشنوایی شایع ترین اختلال حسی - عصبی در انسان می باشد. علیرغم اینکه ژن های مختلفی در ایجاد ناشنوایی نقش دارند اما بیشترین جهش ها در بسیاری از جوامع در ژن کانکسین 26 (GJB2) گزارش شد. لذا این مطالعه با هدف بررسی اپیدمیولوژی ژنتیک و فراوانی جهش های ژن GJB2 در 45 شجره بزرگ ناشنوایی استان چهارمحال و بختیاری در سال 1387 انجام شد. روش بررسی: در این مطالعه توصیفی ژنتیکی، 45 شجره ...

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...

Journal: :Archives of Otolaryngology–Head & Neck Surgery 2005

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