نتایج جستجو برای: dfnb4
تعداد نتایج: 46 فیلتر نتایج به سال:
Hereditary deafness has proved to be extremely heterogeneous genetically with more than 40 genes mapped or cloned for non-syndromic dominant deafness and 30 for autosomal recessive non-syndromic deafness. In spite of significant advances in the understanding of the molecular basis of hearing loss, identifying the precise genetic cause in an individual remains difficult. Consequently, it is impo...
ناشنوایی شایع ترین نقص حسی در انسان است که در نیمی از موارد به علل ژنتیکی مربوط می شود. 75-80% موارد وراثتی به صورت اتوزومی مغلوب هستند. مشکل اصلی تشخیص در اختلالاتی مانند ناشنوایی، علل ناهمگن آنهاست؛ شایع ترین ژن های دخیل در ناشنوایی عبارتند از dfnb1 (gjb2&6)، dfnb3 (myo15a)، dfnb4 (slc26a4)، dfnb7/11 (tmc1)، dfnb8/10 (tmprss3)، dfnb9 (otof)، dfnb12 (cdh23)، dfnb59 (pjvk)، dfnb67 (tmhs). بنابر...
E nlargement of the vestibular aqueduct (EVA) and its contents, the endolymphatic sac and duct, is the most common radiologic malformation of the inner ear associated with sensorineural hearing loss. It may occur alone or in combination with an incomplete partition of the apical turn of the cochlea as part of a complex of malformations known as a Mondini deformity. Hearing loss in ears with EVA...
E nlargement of the vestibular aqueduct (EVA) and its contents, the endolymphatic sac and duct, is the most common radiologic malformation of the inner ear associated with sensorineural hearing loss. It may occur alone or in combination with an incomplete partition of the apical turn of the cochlea as part of a complex of malformations known as a Mondini deformity. Hearing loss in ears with EVA...
The cloning of the gene involved in the pathogenesis of Pendred’s syndrome has been eagerly awaited since linkage was reported to chromosome 7q22–31.1 in 1996 (1, 2). What could cause sporadic goiter with impaired iodine organification along with congenital sensorineural deafness? The association of these signs was first described by Vaughan Pendred in 1898, in a family in which two of five chi...
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