نتایج جستجو برای: deafness autosomal recessive 59
تعداد نتایج: 115286 فیلتر نتایج به سال:
The GJB2 gene is located on chromosome 13q12 and it encodes the connexin 26, a transmembrane protein involved in cell-cell attachment of almost all tissues. GJB2 mutations cause autosomal recessive (DFNB1) and sometimes dominant (DFNA3) non-syndromic sensorineural hearing loss. Moreover, it has been demonstrated that connexins are involved in regulation of growth and differentiation of epidermi...
Cadherin related gene (CDH23), which encodes otocadherin is a novel member of the cadherin gene superfamily. CDH23 mutations were found in families with nonsyndromic autosomal recessive deafness (DFNB12), and in families with deafness associated with vestibular dysfunction and retinitis pigmentosa (USH1D), respectively (Bolz et al., 2001; Bork et al., 2001; Petit, 2001). DFNB12 has been located...
More than 60% of prelingual deafness is genetic in origin, and of these up to 93% are monogenic autosomal recessive traits. Turkey has been continually inhabited since ancient times with traditional settlement of small and isolated villages. There is a high level of both parental consanguinity and assortative mating among the deaf and a long history of the use of sign language. All of these fac...
Usher syndrome (USH) is an autosomal recessive disorder characterized by combined deafness-blindness. It accounts for about 50% of all hereditary deafness blindness cases. Three clinical subtypes (USH1, USH2, and USH3) are described, of which USH1 is the most severe form, characterized by congenital profound deafness, constant vestibular dysfunction, and a prepubertal onset of retinitis pigment...
X linked recessive deafness accounts for only 1.7% of all childhood deafness. Only a few of the at least 28 different X linked syndromes associated with hearing impairment have been characterised at the molecular level. In 1960, a large Norwegian family was reported with early onset progressive sensorineural deafness, which was indexed in McKusick as DFN-1, McKusick 304700. No associated sympto...
BACKGROUND Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome is a multi-organ disorder that links to autosomal recessive mutations in the KCNJ10 gene, which encodes for the Kir4.1 potassium channel. It is mostly described in consanguineous, non-European families. CASE REPORT A European male of non-consanguineous birth, with early-onset, static ataxic motor disorder, intellectual ...
Chronic diarrhea, juvenile cataracts, and tendon xanthomas, among other neurological systemic disturbances, characterize Cerebrotendinous xanthomatosis, an autosomal recessive lipid storage disease
Autosomal-recessive non-syndromic hearing impairment (DFNB) is usually of prelingual onset with a moderate to profound degree of hearing loss. More than 70 DFNB loci have been mapped and ~40 causative genes have been identified. Non-syndromic hearing impairment caused by mutations of DFNB59 (encoding pejvakin) has been described in a couple of families in which affected individuals presented wi...
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