نتایج جستجو برای: hereditary deafness
تعداد نتایج: 91403 فیلتر نتایج به سال:
The most common syndromic form of hereditary SNHL, Pendred syndrome (PS) was described by Pendred in 1896. The condition is autosomal recessive, and affected individuals also have goiter. The prevalence of PS is estimated at 7.5 to 10 per 100,000 individuals, suggesting that the syndrome may account for 10% of hereditary deafness. The hearing loss is usually congenital and severe to profound, a...
Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is characterized by late onset (30-40 years old) cerebellar ataxia, sensory neuronal deafness, narcolepsy-cataplexy and dementia. We performed exome sequencing in five individuals from three ADCA-DN kindreds and identified DNMT1 as the only gene with mutations found in all five affected individuals. Sanger sequencing confir...
abstract- the syndrome of diabetes mellitus, sensorineural deafness and megaloblastic anemia dose not result from thiamine deficiency. the previous reported patients had no sign of beriberi, had normal nutrition, and had no evidence of malabsorption. the features of this syndrome with apparent inheritance of autosomal recessive trait may define this puzzling syndrome as a true thiamine dependen...
introduction and objective: alport’s syndrome (hereditary nephritis with deafness) is a familial uncommon disease that ultra-structural studies are gold standard method of its diagnosis. materials and methods:we studied 26 iranian patients suspicious of alport’s syndrome by electron microscopy. we examined 19 men and 7 women (male to female ratio was 2.7) and the average age was 1.5 years (with...
Connexin 26 (Cx26) and connexin 30 (Cx30) are encoded by two genes (GJB2 and GJB6, respectively) that are found within 50 kb in the same complex deafness locus, DFNB1. Immunocytochemistry and quantitative PCR analysis of Cx30 KO mouse cultures revealed that Cx26 is downregulated at the protein level and at the mRNA level in nonsensory cells located between outer hair cells and the stria vascula...
Alport Syndrome is a hereditary disease that is caused by a gene mutation and affects the production of collagen in basement membranes; this condition causes hemorrhagic nephritis associated with deafness and ocular changes. The X-linked form of this disease is the most common and mainly affects males. Typical ocular findings are dot-and-fleck retinopathy, anterior lenticonus, and posterior pol...
Samples from 30 deaf probands exhibiting features suggestive of syndromic mitochondrial deafness or from families with maternal transmission of deafness were selected for investigation of mutations in the mitochondrial genes MT-RNR1 and MT-TS1. Patients with mutation m.1555A>G had been previously excluded from this sample. In the MT-RNR1 gene, five probands presented the m.827A>G sequence varia...
In experimental animals where the generation time is short and matings can be controlled experimentally, it is a relatively simple task to determine whether a trait is genetic, how it is inherited, and where the causal gene pair is located. However, in human genetics, inferences must be drawn by pooling observations on many small families in which the trait of interest has occurred. The conditi...
The syndrome of hereditary nephritis and perceptive deafness was first recognized by Alport (1927), although reports suggestive of this association date from the latter part of the i8th century. The syndrome has since been widened to include certain ocular defects, such as lenticonus, microspherophakia, and lens opacities, and about IOO families have been described in the world literature. In r...
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