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Ophthalmic Paediatrics and Genetics, 1990
Usher's syndrome is an autosomal recessive condition of congenital sensorineural hearing loss and retinitis pigmentosa. Other abnormalities are present but inconsistently, suggesting the genetic concepts of pleiotropy and heterogeneity. Accordingly, several classifications have been suggested.
S, Samuelson, J, Zahn
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Usher's syndrome is an autosomal recessive condition of congenital sensorineural hearing loss and retinitis pigmentosa. Other abnormalities are present but inconsistently, suggesting the genetic concepts of pleiotropy and heterogeneity. Accordingly, several classifications have been suggested.
S, Samuelson, J, Zahn
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American Journal of Medical Genetics, 1999
Mutations in the gene (MYO7A) encoding myosin-VIIa, a member of the large superfamily of myosin motor proteins that move on cytoplasmic actin filaments, and in the USH2A gene, which encodes a novel protein resembling an extracellular matrix protein or a cell adhesion molecule, both cause Usher syndrome (USH), a clinically heterogeneous autosomal ...
B J, Keats, D P, Corey
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Mutations in the gene (MYO7A) encoding myosin-VIIa, a member of the large superfamily of myosin motor proteins that move on cytoplasmic actin filaments, and in the USH2A gene, which encodes a novel protein resembling an extracellular matrix protein or a cell adhesion molecule, both cause Usher syndrome (USH), a clinically heterogeneous autosomal ...
B J, Keats, D P, Corey
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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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