Sökning: "multiplex ligation-dependent probe amplification"

Hittade 5 avhandlingar innehållade orden multiplex ligation-dependent probe amplification.

  1. 1. RAS-MAPK syndromes - a Clinical and Molecular Investigation

    Författare :Anna-Maja Nyström; Marie-Louise Bondeson; Göran Annerén; Anna Wedell; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; RAS-MAPK syndromes; Noonan syndrome; Neurofibromatosis type I; cardio-facio-cutaneous syndrome; mutation; multiplex ligation-dependent probe amplification; gene; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Klinisk genetik; Clinical Genetics;

    Sammanfattning : The RAS-MAPK syndromes are a group of clinically and genetically related disorders, characterized by cardiac defects, facial dysmorphism, cutaneous abnormalities and neurocognitive impairment. The pathogenesis is dysregulation of the RAS-MAPK pathway, and several genes within the pathway are involved. LÄS MER

  3. 2. Interpreting the human transcriptome

    Författare :Beata Werne Solnestam; Joakim Lundeberg; Piero Carninci; KTH; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Transcriptome; RNA sequencing; high-throughput sequencing; gene expression profiling; multiplex amplification; Bioteknologi; Biotechnology;

    Sammanfattning : The human body is made of billions of cells and nearly all have the same genome. However, there is a high diversity of cells, resulted from what part of the genome the cells use, i.e. which RNA molecules are expressed. LÄS MER

  4. 3. Genotype/ phenotype correlation of two neuropsychiatric diseases. A genetic study of CDG1a and Rett syndrome

    Författare :Anna Erlandson; Göteborgs universitet; []
    Nyckelord :CDG 1a; PMM2; Rett syndrome; MECP2; mutations; genotype phenotype; DHPLC; MLPA;

    Sammanfattning : The aim of this thesis was to investigate the effects of mutations in the genes that cause the two neuropsychiatric diseases congenital disorder of glycosylation (CDG) type Ia and Rett syndrome. These two diseases affect children's central and peripheral nervous systems, causing mental retardation and neuronal impairment. LÄS MER

  5. 4. Genetic mapping of retinal degenerations in Northern Sweden

    Författare :Linda Köhn; Irina Golovleva; Alison Hardcastle; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Bothnia dystrophy; cone dustrophy; linkage analysis; mutation; PITPNM3; PRPF31; retinitis pigmentosa; RLBP1; Medical genetics; Medicinsk genetik; genetik; Genetics;

    Sammanfattning : Inherited retinal degenerations are a group of disorders characterised by great genetic heterogeneity. Clinically, they can be divided into two large groups of diseases, those associated with night blindness, e.g. retinitis pigmentosa (RP), and those with macular malfunction, e. LÄS MER

  7. 5. Unraveling genetic mechanisms in autism spectrum disorders

    Författare :Anna Bremer; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Autism Spectrum Disorders (ASDs) are a group of neurodevelopmental disorders characterized by impairments in socialization and communication accompanied by repetitive and stereotypic behaviors. ASDs are highly heritable and heterogeneous with a complex genetic etiology. LÄS MER