Results 161 to 170 of about 7,382 (203)
Some of the next articles are maybe not open access.
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
openaire +2 more sources
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
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
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
openaire +2 more sources
Sudan Puri +5 more
openaire +2 more sources
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.
openaire +1 more source
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.
openaire +1 more source
Oftalmologia (Bucharest, Romania : 1990), 2005
to show the manner of diagnose of this syndrome and to evaluate the possibilities of treatment MATERIAL AND METHOD--there are shown: --ophthalmological and ENT clinical examination --visual field test--adaptometry--audiometry --impedance--auditive evoked potentials--cataract extraction (phacoemulsification).After cataract extraction the visual acuity ...
M, Zemba +5 more
openaire +1 more source
to show the manner of diagnose of this syndrome and to evaluate the possibilities of treatment MATERIAL AND METHOD--there are shown: --ophthalmological and ENT clinical examination --visual field test--adaptometry--audiometry --impedance--auditive evoked potentials--cataract extraction (phacoemulsification).After cataract extraction the visual acuity ...
M, Zemba +5 more
openaire +1 more source
Recent progress in Lynch syndrome and other familial colorectal cancer syndromes
Ca-A Cancer Journal for Clinicians, 2018Patrick M Boland +2 more
exaly
Structural biology of the chaperone–usher pathway of pilus biogenesis
Nature Reviews Microbiology, 2009Gabriel Waksman, Scott J Hultgren
exaly
Clinical diagnosis of the Usher syndromes
American Journal of Medical Genetics Part A, 1994Richard J H Smith
exaly