نتایج جستجو برای: syndromic sporadic hearing loss
تعداد نتایج: 510174 فیلتر نتایج به سال:
AIM To develop a screening in order to determine the more common syndromic and non-syndromic genetic SNHL, considering epidemiological data, information and the development of new technologies; clinical implications and bioethical issues. MATERIALS AND METHODS We reviewed the literature in order to develop a screening that includes: history, patterns of inheritance, physical evaluation, labor...
The 35delG mutation in the gap junction protein, β2, 26kDa (GJB2) gene is the most common mutation that has been found in children with non syndromic hearing loss. Testing for the GJB2 gene mutation is simple and can directly answer the concerns of the parents about cause of the disorder and prognosis for their children. Cochlear implantation (CI) is one of the methods of hearing rehabilitation...
Mutations in GJB2, gene coding for connexin 26 (Cx26), and GJB6, gene coding for connexin 30 (Cx30), are the most common genetic defects causing non-syndromic hereditary hearing loss. We previously reported that overexpression of Cx26 completely rescues the hearing in a mouse model of human GJB6 null mutations. The results suggest that therapeutic agents up-regulating the expression of Cx26 may...
Background: Our research focuses on different dimensions of families of Turkmen population of Iran with two or more than two affected members. A complete clinical ear test was conducted on them. It was aimed to find families with the highest chance of hereditary hearing impairment among siblings and also existence of consanguinity among their parents. <em...
To identify candidate genes for human hearing disorders and to understand better human hearing at the molecular level, we constructed a human cochlear cDNA library. An aliquot of the unsubtracted cochlear library was contributed to the IMAGE Consortium at Lawrence Livermore National Laboratory for the generation of expressed sequence tags (ESTs) by the Merck/WashU EST project. Over 4000 ESTs we...
introduction: children learn to communicate by hearing sounds. if there is hearing loss, the cognitive and speaking abilities and language learning will deteriorate. early detection and intervention are important factors in the successful treatment of hearing loss in children. hearing loss (hl) is divided into two main groups: conductive hearing loss (chl) and sensorineural hearing loss (snhl),...
KIT, PDGFRA, NF1 and SDH mutations are alternate initiating events, fostering hyperplasia in gastrointestinal stromal tumours (GISTs), and additional genetic alterations are required for progression to malignancy. The most frequent secondary alteration, demonstrated in ∼70% of GISTs, is chromosome 14q deletion. Here we report hemizygous or homozygous inactivating mutations of the chromosome 14q...
Hearing loss due to mutations in the connexin gene family, which encodes gap junctional proteins, is a common form of hereditary deafness. In particular, connexin 26 (Cx26, GJB2) mutations are responsible for ~50% of non-syndromic hearing loss, which is the highest incidence of genetic disease. In the clinic, Cx26 mutations cause various auditory phenotypes ranging from profound congenital deaf...
Background & Objective: Deafness is the most common sensory disorder in humans which is highly heterogeneous. Among its various types, autosomal recessive non-syndromic hearing loss (ARNSHL) is responsible for 80% of pre-speech congenital cases of hearing loss. The purpose of this study was to investigate the genetic linkage of DFNB4 locus in hearing impaired families in Hormozgan. Method: Te...
INTRODUCTION Several mitochondrial DNA mutations have been reported to be associated with nonsyndromic hearing loss in several families. However, little is known about the prevalence of these mutations in sporadic patients with nonsyndromic sensorineural hearing loss. OBJECTIVE The purpose of our study was to investigate the incidence of these mitochondrial DNA mutations in such population. ...
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