Results 91 to 100 of about 435 (138)
Some of the next articles are maybe not open access.
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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.
openaire +1 more source
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.
openaire +1 more source
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
openaire +3 more sources
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
openaire +3 more sources
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.
openaire +1 more source
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.
openaire +1 more source
There are nine known loci, USH1B to USH1K (no USH1A or USH1I).
Benjamin Kuang-Chien, Chiang +3 more
openaire +2 more sources
Benjamin Kuang-Chien, Chiang +3 more
openaire +2 more sources
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
openaire +1 more source
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
openaire +1 more source
Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium.
American journal of medical genetics, 1994The Usher syndromes are genetically distinct disorders which share specific phenotypic characteristics. This paper describes a set of clinical criteria recommended for the diagnosis of Usher syndrome type I and Usher syndrome type II. These criteria have been adopted by the Usher Syndrome Consortium and are used in studies reported by members of this ...
R J, Smith +8 more
openaire +1 more source