نتایج جستجو برای: autosomal recessive non syndromic hearing loss
تعداد نتایج: 1782138 فیلتر نتایج به سال:
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)...
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...
Abstract Background Autosomal recessive non-syndromic hearing loss (ARNSHL) is genetically and phenotypically heterogeneous with over 110 genes causally implicated in syndromic loss. Here, we investigate the genetic etiology of deafness two GJB2 GJB6 negative patients presenting pre-lingual, progressive, severe Methods Targeted exome sequencing (TES) using Next Generation Illumina Sequencing wa...
A second Middle Eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9
hearing loss (hl) is the most frequent sensory defect present in 1 of every 500 newborns. in developed countries, at least 50% of cases are caused genetic factors, most often resulting in nonsyndromic hl (70%), which is usually autosomal recessive (80%). to date, fifty genes associated with autosomal recessive non-syndromic hearing loss (arnshl) have been reported. the aim of this study was to...
The PDS gene encodes a transmembrane protein, known as pendrin, which functions as a transporter of iodide and chloride. Mutations in this gene are responsible for Pendred syndrome and autosomal recessive non-syndromic hearing loss at the DFNB4 locus on chromosome 7q31. A screen of 20 individuals from the midwestern USA with non-syndromic hearing loss and dilated vestibular aqueducts identified...
F amilial hypertrophic cardiomyopathy (FHC) is typically characterised by left ventricular hypertrophy, diastolic dysfunction, and hypercontractility, and is often associated with disabling symptoms, arrhythmias, and sudden death. FHC shows both non-allelic and allelic genetic heterogeneity, and results from any one of more than 100 mutations in genes encoding sarcomeric proteins. Identified ge...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید