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OBJECTIVE To determine the prevalence of GJB2 gene mutations in patients undergoing cochlear implantation (CI) and their impact on rehabilitative outcome following implantation. DESIGN Prospective determination of GJB2 mutation by sequence analysis by denaturing high-performance liquid chromatography and its correlation with outcome following CI. SETTINGS Two tertiary academic medical cente...
Background: Congenital hearing loss due to different genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2 (Gap Junction Beta-2) gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromic hearing loss. Materials and methods: The aim of this study was to study the frequency of GJB2 Mutations in Lor...
while hearing loss has been considered to be a very heterogeneous disorder, mutations in gap junction beta 2 (gjb2) gene encoding connexin 26 (cx26) protein are the major cause of autosomal recessive and sporadic non-syndromic deafness in many populations. in this study, we have investigated the prevalence of the gjb2 gene mutations using nested pcr pre screening strategy and direct sequencing ...
autosomal recessive and sporadic non-syndromic hearing loss (arsnshl) is the major form of hereditary deafness.mutations in the gjb2 gene encoding the gap-junction protein connexin 26 have been identified to be highly associated with arsnshl. in this study we have analyzed 196 deaf subjects from 179 families having one or more deaf children in 3 proviences of iran, including kordestan, khuzesta...
The unparalleled heterogeneity in genetic causes of hearing loss along with remarkable differences in prevalence of causative variants among ethnic groups makes single gene tests technically inefficient. Although hundreds of genes have been reported to be associated with nonsyndromic hearing loss (NSHL), GJB2, GJB6, SLC26A4, and mitochondrial (mt) MT-RNR1 and MTTS are the major contributors. In...
Introduction: Hearing impairment is a complex medical disorder whichhas genetic and non-genetic causes. Gap Junction Protein Beta 2 (GJB2) gene variant is a well-known disease-causing gene among patients with hearing impairment. The frequencies of genetic variants in the GJB2 gene are different in each population. This study aimed to discuss the GJB2 gene status in an Iranian population with he...
یکی از خلاقانهترین نمونههای بازخوانی اسطوره در ادبیات آلمانیزبان رمان جهان آخر اثر نویسندۀ اتریشی کریستف رانسمایر است که آن اسناد تاریخی دربارۀ زندگی شاعر ملی رم باستان اوید و بنمایههای کتاب دگردیسیهای او قالب پیرنگ مدرنی بازنمایی شدهاند. روایتهای کهن را با تجربههای زیستی تفکر انتقادی معاصر درهم آمیخته روایت نشانههای انحطاط همهجانبهای مشاهده کرده به باور وی ویژگیهای تمدن امروز بشر...
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