Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 10 of 10 for “"Usher Syndrome"”.
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Modeling human Usher syndrome during Drosophila melanogaster development
Human Usher syndrome is a severe and congenital form of syndromic deafness that affects 1 person in 25,000 people in the world population. Normally the stereocilia, microvillar protrusions of the apical membrane of inner ear hair cells, are organized into coherent bundles. This precise organization …
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Molecular Genetics of Usher Syndrome: Mutation Screening Studies and Discovery of the Usher Syndrome Type IIC Gene, the Very Large G-Protein Coupled Receptor (VLGR1).
Usher Syndrome is an inherited human disease of progressive visual impairment diagnosed as retinitis pigmentosa (RP) combined with congenital sensorineural hearing loss and manifests as one of 3 recognized clinical subtypes. Usher I patients (USHI) are deaf with no vestibular responses. Usher II …
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Senses lost : the impossible dilemma of Usher Syndrome, and its possible solutions
Usher Syndrome is an inherited disease that leads to the progressive loss of hearing and vision (retinitis pigmentosa). Increasingly, genetic testing, either through panels or whole exome sequencing, lets people know which of the twelve genes identified to date is responsible for the loss of their …
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Retinal function in deaf-blind syndromes
… combined visual and hearing impairment. Alström syndrome is a rare autosomal recessive disease with variability in clinical phenotypes, and with visual impairment that progress to blindness in the teens. In Alström syndrome we have confirmed variability in the retinal function with different age …
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Expression of Usherin in Human Tissues: Implications for Diagnostics and Pathology
Usher Syndrome is an autosomal recessive disease that results in varying degrees of hearing loss and retinitis pigmentosa. Three types of Usher Syndrome (1,11, and III) have been identified clinically with Usher type II being the most common. Usher type !! has been localized to three different …
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Genetic analysis of inherited retinal diseases in indigenous Southern African populations
… upon identifying a mutation underlying Usher Syndrome in two indigenous African patients, an assay was designed to screen for this mutation in probands with different IRDs (n=170) and controls (n=51), and haplotype analysis was performed on mutation-positive individuals. The registry …
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Unravelling the genetic relationships between auditory processing and speech and language
… focus upon candidate genes related to Usher syndrome, a recessive disorder leading to hearing and vision loss resulting from dysfunctional neurosensory cells in the inner ear and retina (hair cells and photoreceptor cells respectively). Analyses indicate that there is no one single risk …
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Understanding The Visual And Auditory Defect In Ush2a Mouse Model
Usher syndrome (USH) is the most common form of dual deafness and irreversible vision loss found in patients worldwide. USH2 is the most prevalently occurring sub type, accounting for ~50 to 75% of USH clinical cases. Patients with USH2 suffer from congenital hearing loss and progressive vision …
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The genetics of non-syndromic hearing impairment in South Africa
… or likely pathogenic variations associated with Usher Syndrome and the remaining 14 families presented with pathogenic variations associated with non-syndromic HI. One family presented with putative pathogenic variations in NEU1, which is a gene associated with Sialidosis. We specifically …
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Identifying Genes and Novel Variants Involved in Nonsyndromic Hearing Impairment, and Assessment of the Psychosocial Burden of Hearing Impairment in Cameroon
… known NSHI genes was with type 2 Waardenburg syndrome, and three cases of type 2 Usher syndrome were identified in one family. By direct gene sequencing of the coding region of GJB2, no variants were found in any of the 29 families with NSHI. Additionally, through a specific multiplex PCR, the …