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International Journal of Nursing Education and Research, 2021
Usher syndrome is a condition that affects both hearing and vision; sometimes it also affects balance. The major symptoms of Usher syndrome are deafness or hearing loss and an eye disease called retinitis pigmentosa (RP). Most children with Usher syndrome are born with moderate to profound hearing loss, depending on the type.
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Usher syndrome is a condition that affects both hearing and vision; sometimes it also affects balance. The major symptoms of Usher syndrome are deafness or hearing loss and an eye disease called retinitis pigmentosa (RP). Most children with Usher syndrome are born with moderate to profound hearing loss, depending on the type.
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Indian Journal of Otolaryngology, 1978
Usher’s syndrome is a rare cause of hereditary sensorineural deafness. The present paper deals with the report of four cases belonging to two different families, having different extents of involvement.
B. Singh, N. D. Puri, P. K. Kakar
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Usher’s syndrome is a rare cause of hereditary sensorineural deafness. The present paper deals with the report of four cases belonging to two different families, having different extents of involvement.
B. Singh, N. D. Puri, P. K. Kakar
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2018
Ciliopathies are a group of disorders caused by a defect in ciliogenesis, ciliary protein trafficking. Because nearly every cell in the body (including the photoreceptors) contains cilia, defects in ciliary proteins typically affect multiple organ systems.
Stephen H, Tsang +2 more
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Ciliopathies are a group of disorders caused by a defect in ciliogenesis, ciliary protein trafficking. Because nearly every cell in the body (including the photoreceptors) contains cilia, defects in ciliary proteins typically affect multiple organ systems.
Stephen H, Tsang +2 more
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Oftalmologia (Bucharest, Romania : 1990), 2009
We present the case report of two brothers, PF-21 years old and PN-19 years old, to whom the fundus examination, perimetry and dark adaptation established the diagnosis of Retinitis Pigmentosa. The otorhinolaryngology exam and the audiogram revealed, in both cases, bilateral sensorineural deafness.
Gudrun Rappold +28 more
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We present the case report of two brothers, PF-21 years old and PN-19 years old, to whom the fundus examination, perimetry and dark adaptation established the diagnosis of Retinitis Pigmentosa. The otorhinolaryngology exam and the audiogram revealed, in both cases, bilateral sensorineural deafness.
Gudrun Rappold +28 more
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Archives of Otolaryngology - Head and Neck Surgery, 1972
To the Editor .—We have noted an error in reporting the incidence of cataracts in our article, "Clinical Variation in Usher's Syndrome," published in the October 1971Archives( 94: 321-334). Of the six individuals within the three sibships, three had evidence of cataracts on ophthalmologic evaluation.
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To the Editor .—We have noted an error in reporting the incidence of cataracts in our article, "Clinical Variation in Usher's Syndrome," published in the October 1971Archives( 94: 321-334). Of the six individuals within the three sibships, three had evidence of cataracts on ophthalmologic evaluation.
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Indian Journal of Otolaryngology, 1971
Usher’s syndrome is characterized by retinitis pigmentosa, sensori neural deafness and vestibulo cerebellar ataxia and mental disorder. Three cases of this syndrome all belonging to the same family has been presented. The available literature briefly reviewed.
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Usher’s syndrome is characterized by retinitis pigmentosa, sensori neural deafness and vestibulo cerebellar ataxia and mental disorder. Three cases of this syndrome all belonging to the same family has been presented. The available literature briefly reviewed.
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Archives of Otolaryngology - Head and Neck Surgery, 1979
We describe a rare example of Usher's syndrome type III in a 9-year-old boy. This type is characterized by retinitis pigmentosa and progressive sensorineural deafness.
R J, Gorlin +3 more
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We describe a rare example of Usher's syndrome type III in a 9-year-old boy. This type is characterized by retinitis pigmentosa and progressive sensorineural deafness.
R J, Gorlin +3 more
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Current Opinion in Neurology, 2009
The present review addresses the mechanisms, genetics and pathogenesis of Usher syndrome.Recent molecular findings have provided more information regarding the pathogenesis of this disorder and the wide phenotypic variation in both audiovestibular and/or visual systems. Evidence has begun to emerge supporting a theory of a protein interactome involving
Zubin, Saihan +3 more
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The present review addresses the mechanisms, genetics and pathogenesis of Usher syndrome.Recent molecular findings have provided more information regarding the pathogenesis of this disorder and the wide phenotypic variation in both audiovestibular and/or visual systems. Evidence has begun to emerge supporting a theory of a protein interactome involving
Zubin, Saihan +3 more
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Abstract Usher syndrome (USH) is a disorder causing hearing and vision loss. This group of genetically heterogeneous disorders manifests as sensorineural hearing loss, retinal degeneration, and in some cases vestibular dysfunction. These disorders are described based on genetic locus, age of onset, and severity of symptoms, and represent
Sudan Puri +5 more
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Sudan Puri +5 more
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1996
Reports on the incidence of this syndrome vary greatly. In 1987, the number of people suffering from Usher’s syndrome was thought to be only about five in every 100 000. But a much higher incidence than this has been estimated in populations in Finland, Norway and parts of he USA.
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Reports on the incidence of this syndrome vary greatly. In 1987, the number of people suffering from Usher’s syndrome was thought to be only about five in every 100 000. But a much higher incidence than this has been estimated in populations in Finland, Norway and parts of he USA.
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