نتایج جستجو برای: deafness
تعداد نتایج: 7684 فیلتر نتایج به سال:
Rubella antibody was detected in 85 (61%) of 139 children aged from 6 months to 7 years with congenital perceptive deafness. Of the 112 children who were aged under 4 years 61 (54%) had rubella antibody (seropositive) compared with 7.1% in randomly selected children of the same age. A close correlation was found between the presence of antibody in children with perceptive deafness and (1) a mat...
BSND encodes barttin, an accessory subunit of renal and inner ear chloride channels. To date, all mutations of BSND have been shown to cause Bartter syndrome type IV, characterized by significant renal abnormalities and deafness. We identified a BSND mutation (p.I12T) in four kindreds segregating nonsyndromic deafness linked to a 4.04-cM interval on chromosome 1p32.3. The functional consequence...
BACKGROUND Copy number variations (CNVs) are the major type of structural variation in the human genome, and are more common than DNA sequence variations in populations. CNVs are important factors for human genetic and phenotypic diversity. Many CNVs have been associated with either resistance to diseases or identified as the cause of diseases. Currently little is known about the role of CNVs i...
Two brothers are described with renal tubular acidosis and nerve deafness: the elder also had rickets and hypokalaemia. The parents were unaffected. Studies of urinary acidification and bicarbonate excretion were consistent with a distal tubular abnormality. This report strengthens the view previously proposed in similar cases that nerve deafness and renal tubular acidosis constitute a genetic ...
OBJECTIVES The aim of this study was to explore the self-reported consequences of profound unilateral deafness regarding communication and social interaction and to compare subjects' speech perception scores to those of normal-hearing individuals who were rendered temporarily unilaterally deaf. METHODS Cross-sectional data from 30 individuals with unilateral deafness and 30 individuals with n...
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