Sökning: "inherited disorders"

Visar resultat 1 - 5 av 70 avhandlingar innehållade orden inherited disorders.

  1. 1. Genetic Screening in Patients Suspected of Inherited Bleeding Disorders

    Författare :Marcus Fager Ferrari; Malmö Klinisk koagulationsmedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Bleeding; Inherited Bleeding Disorders; Platelet Dysfunction; Thrombocytopenia; Genetic Screening; High-Throughput Sequencing; STX11; STXBP2; UNC13D; FGB; COL1A1; COL3A1; COL5A1; COL5A2; GNE; Sialic Acid; Oseltamivir;

    Sammanfattning : Inherited bleeding disorders constitute a heterogeneous group of genetic diseases, affecting virtually all major components of the hemostatic system. The diagnostics are potentially complex, and a high proportion of patients remain without a conclusive diagnosis following work-up. LÄS MER

  3. 2. Clinical and genetic studies of three inherited skeletal disorders

    Författare :Eva-Lena Stattin; Göran Roos; Niklas Dahl; Jaakko Ignatius; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; skeletal disorders; osteochondritis dissecans; ACAN-gene; multiple epiphyseal dysplasia; brachydactyly type A1; IHH-gene; Medical genetics; Medicinsk genetik; klinisk genetik; Clinical Genetics;

    Sammanfattning : Mutations in genes of importance for cartilage development may lead to skeletal malformations, chondroskeletal dysfunction and increased susceptibility to degenerative joint disease. Characterization of these mutations and identification of molecular pathways for the corresponding gene products have contributed to our understanding of mechanisms regulating skeletal patterning, endochondral ossification and joint formation. LÄS MER

  4. 3. Genetic studies in mood disorders

    Författare :Magnus Lekman; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Mood disorders, including bipolar disorder (BPD) and major depressive disorder (MDD), are highly complex psychiatric disorders. Decades of genetic studies have generated a large number of putative genetic susceptibility variants. However, with exception of CACNA1C, SYNE1 and ANK3 in BPD no robust association has as yet been identified. LÄS MER

  5. 4. Genetic studies of neurodevelopmental disorders

    Författare :Josephine Wincent; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Neurodevelopmental disorders (NDDs) constitute a heterogeneous group of disorders that adversely impacts a child’s behavioural and learning processes. Developmental delay (DD) and mental retardation are included among the NDDs and are frequently associated with a wide range of accompanying disabilities such as multiple congenital anomalies and dysmorphic features. 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