نتایج جستجو برای: congenital deafness
تعداد نتایج: 126845 فیلتر نتایج به سال:
The pure white cat with luminous blue eyes is an attractive image familiar to many. These animals are well-known to be commonly affected by a congenital hereditary deafness that may affect one or both ears; the deafness is linked to the so-called W gene. Reports of this condition date back to at least the 1930s (Bamber, 1933), and many investigators have studied it in subsequent years (Wolff, 1...
Long QT syndrome, which is defined by corrected QT interval longer than 0.45 seconds in men and o. 47 sec in women , could be divided into idiopathic (congenital ) and acquired forms. The idiopathic form is a familial disorder that can be associated with sensorineural deafness (Jervell and Lange- Neelson syndrome), which is transmitted with an autosomal recessive pattern. Although this syndrome...
OBJECTIVE To analyze the physical manifestations and genetic features of 2 families segregating X-linked deafness, which is most commonly reported to be caused by mutations of the POU domain gene POU3F4 at the DFN3 locus. DESIGN Computed tomographic study of the temporal bone in probands from each family, followed by mutation screening and deletion mapping of POU3F4 in family members. SETTI...
K+-recycling defect is a long-standing hypothesis for deafness mechanism of Connexin26 (Cx26, GJB2) mutations, which cause the most common hereditary deafness and are responsible for >50% of nonsyndromic hearing loss. The hypothesis states that Cx26 deficiency may disrupt inner ear gap junctions and compromise sinking and recycling of expelled K+ ions after hair cell excitation, causing accumul...
MYH9-related disease (MYH9-RD) is a rare genetic syndromic disorder characterised by congenital thrombocytopenia and is associated with the risk of developing progressive sensorineural hearing loss, nephropathy and presenile cataracts during childhood or adult life. All consecutive patients enrolled in the Italian Registry for MYH9-RD with severe to profound deafness were included in a retrospe...
The cochlea is a sensory organ that converts physical (sound) stimulation into electrical signals. This process is fundamentally and substantially based upon the ion transport system. Here, I summarize the physiological and molecular biological aspects of transporters, channels and receptors expressed in the cochlea. With reference to these findings, recent advances in genetic research on hered...
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