Sökning: "Bardet-Biedl syndrome"

Hittade 4 avhandlingar innehållade orden Bardet-Biedl syndrome.

  1. 1. Laurence-Moon-Bardet-Biedl syndrome. Clinical,electrophysiological and genetic aspects

    Författare :Ruth Riise; Lund Oftalmologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Laurence-Moon-Bardet-Biedl syndrome; Bardet-Biedl syndrome. Retinal dystrophy. Retinitis Pigmentosa. Obesity. Dental anomalies. Skeletal anomalies. Hypogenitalism. Variation. Overlapping. Genetic linkage mapping.; Alström syndrome; Ophtalmology; Oftalmologi;

    Sammanfattning : The study included 44 Scandinavian individuals with the autosomal recessive inherited Laurence-Moon-Bardet-Biedl syndrome. Inclusion criteria were retinal dystrophy plus at least 2 more of the remaining traditional cardinal signs of the syndrome: obesity, polydactyly, hypogenitalism and mental retardation. LÄS MER

  3. 2. Models of Retinal Development and Disease

    Författare :Minas Hellsand; Finn Hallböök; Emma Andersson; Department of Cell and Molecular Biology Karolinska Institutet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Developmental neurobiology; retinal organoids; retinoblastoma; MYCN; Stargardt disease; Bardet-Biedl syndrome; model systems;

    Sammanfattning : For a model of a human disease to be valid and useful, it is important that key genotypic and phenotypic traits are shared between model system and human. The work in this thesis has been focused on generating new and characterizing spontaneous models of three genetic disorders affecting the retina: retinoblastoma, a childhood cancer with its origin in the fetal retina, Stargardt disease, a juvenile form of macular degeneration, and Bardet-Biedl syndrome, a pleiotropic ciliopathy featuring retinal degeneration. LÄS MER

  4. 3. Canine inherited retinal degenerations: a model for visual impairment in humans

    Författare :Suvi Mäkeläinen; Sveriges lantbruksuniversitet; Sveriges lantbruksuniversitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : Inherited retinal degenerations (IRDs) form a clinically and genetically heterogeneous group of diseases, leading to visual impairment or blindness in both humans and dogs. The prevalence of IRDs is estimated at 1 in 2,000 in humans. LÄS MER

  5. 4. Characterization of candidate disease genes from human chromosomes 11g13 and 22q

    Författare :Darek Kedra; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Fugu rubripes; 11q13 region; MEN1; menin; GCK; DMPKL; meningioma; clathrin; adaptin; NIPSNAP; synaptogyrin; TOM1; SMARCB1;

    Sammanfattning : Two regions of the human genome, 11q13 and 22q, have been shown to harbor numerous disease-related genes, among them tumor suppressor genes (TSGs). The aim of this project was to construct transcription maps within these chromosomal segments, and thus provide a basis for further analysis of some of the genes for their involvement in disease-related processes. LÄS MER