Search for dissertations about: "Usher type I"

Found 3 swedish dissertations containing the words Usher type I.

  2. 1. Usher syndrome. Prevalence and phenotype - genotype correlations

    Author : Mehdi Sadeghi; Göteborgs universitet; []
    Keywords : deafblindness; Usher syndrome; retinitis pigmentosa; prevalence; Usher type I; Usher type II; Usher type III; vestibular deficiency; hereditary hearing loss;

    Abstract : Aims: the main purpose of this thesis was to estimate the prevalence of Usher syndrome type I, II and III in Sweden (study I) and to determine the clinical differences between Usher syndrome subtypes (studies II-IV). The hypothesis to be tested was that different genes for Usher syndrome will produce different phenotypes even when they belong to the same clinical type (studies II and III). READ MORE

  4. 2. Cognitive capacities and composite cognitive skills in individuals with Usher syndrome type 1 and 2

    Author : Cecilia Henricson; Björn Lyxell; Claes Möller; Björn Lidestam; Håkan Alm; Linköpings universitet; []
    Keywords : SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; Usher syndrome; Cognition; Phonological skills; Lexical Access; Working memory; Reading; Theory of Mind; Deafblindness; Ushers syndrom; Kognition; Fonologisk förmåga; Lexikal access; Arbetsminne; Läsning; Theory of Mind; Dövblindhet;

    Abstract : The present thesis belongs to the research area disability research and deal with specific aspects of cognition in individuals with Usher syndrome type 1 and 2. The subject has been investigated and is discussed within an interdisciplinary framework, though the theories applied and described are derived from the area of cognitive psychology. READ MORE

  5. 3. Retinal function in deaf-blind syndromes

    Author : Eva Malm; Lund Oftalmologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; general anesthesia.; molecular genetics; hearing impairment; full-field electroretinography; Retinal degeneration;

    Abstract : A variety of disorders can cause retinal degeneration and hearing impairment, and it is of great value to have an early diagnosis since there is a large variation in phenotype and prognosis both within and between the different disorders. The general aim of this thesis was to characterize the retinal function, to describe the phenotype, and – where appropriate – to relate the phenotype to genotype in patients with combined visual and hearing impairment. READ MORE