نتایج جستجو برای: autosomal recessive non syndromic hearing loss arnshl
تعداد نتایج: 1782155 فیلتر نتایج به سال:
The DFNB7/11 locus for autosomal recessive non-syndromic hearing loss (ARNSHL) has been mapped to an approx. 1.5 Mb interval on human chromosome 9q13-q21. We have determined the cDNA sequence and genomic structure of a novel cochlear-expressed gene, ZNF216, that maps to the DFNB7/11 interval. The mouse orthologue of this gene maps to the murine dn (deafness) locus on mouse chromosome 19. The ZN...
Objective(s): Targeted next-generation sequencing (NGS) provides a consequential opportunity to elucidate genetic factors in known diseases, particularly in profoundly heterogeneous disorders such as non-syndromic hearing loss (NSHL). Hearing impairments could be classified into syndromic and non-syndromic types. This study intended to assess the significance of mutations in these genes to the ...
Introduction: Hearing loss is the most common sensory neural defect in humans, affecting 1 in 1000 neonates, with over half of these cases predicted to be hereditary in nature. Most hereditary hearing loss is inherited in a recessive fashion, accounting for approximately 80 % of non-syndromic hearing loss (NSHL). Mutations in GJB2 gene are major cause of inherited deafness in the European an...
Genetic factors are thought to account for approximately one half of cases of childhood hearing loss, the majority of which is non-syndromic and not associated with other abnormalities. Seventy-seven percent of hereditary, non-syndromic, prelingual deafness is autosomal recessive, 22% is autosomal dominant, and 1% is transmitted as a matrilineal or X linked trait. So far, more than 30 distinct ...
H earing impairment is a common condition responsible for communication disorders affecting one in 1000 newborns. 2 A national poll by the China Association of the Handicapped in 1987 showed that 20.57 million people in the country were affected by auditory or speech disorders, accounting for 34% of the 60 million disabled or 1.58% of the total Chinese population (1.3 billion) (www.cdpf.org.cn)...
Comprehensive genetic testing has the potential to become the standard of care for individuals with hearing loss. In this study, we investigated the genetic etiology of autosomal recessive nonsyndromic hearing loss (ARNSHL) in a Turkish cohort including individuals with cochlear implant, who had a pedigree suggestive of an autosomal recessive inheritance. A workflow including prescreening of GJ...
Abstract Background and aim: The frequency of hearing impairment is one out of 500 newborn babies, worldwide. However, in Iran, due to the high prevalence of consanguineous marriages, this amount is estimated to be two to three times higher. So far, more than 120 genes causing non-syndromic Hearing loss (NSHL) have been identified in the world, of which GJB2 gene mutations are the most common c...
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