Sökning: "Congenital abnormalities"

Visar resultat 21 - 25 av 37 avhandlingar innehållade orden Congenital abnormalities.

  1. 21. Cellular studies of neuromuscular disorders related to the sarcomeric proteins

    Författare :Saba Abdul-Hussein; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; myogenesis; myoblast; sarcomeric myopathy; TPM2; TRIM54; TRIM63;

    Sammanfattning : Sarcomere is the basic unit of cardiac and skeletal muscle contraction and its proper function requires an invariant organization of this structure. Mutations in sarcomeric proteins are known to cause increasing number of different cardiac and skeletal muscle diseases. LÄS MER

  3. 22. Teratogenicity Involved in Experimental Diabetic Pregnancy

    Författare :Mattias Gäreskog; Parri Wentzel; Ulf Eriksson; Jonas Cederberg; Kari Teramo; Uppsala universitet; []
    Nyckelord :Cell biology; Diabetes; Pregnancy; PKC; Apoptosis; Rat; Embryopathy; Vitamin E; Folic acid; CHC; NAC; Cellbiologi;

    Sammanfattning : Maternal diabetes is associated with increased risk of growth disturbances and congenital malformations. The malformations rate in the offspring of diabetic mothers is 2-3 fold higher compared to infants of nondiabetic mothers. LÄS MER

  4. 23. 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

  5. 24. Complex genomic rearrangements in rare brain disorders : genetic architecture and molecular consequences

    Författare :Jakob Schuy; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Structural variants (SVs) within the genome, such as deletions, duplications, inversions, and translocations, are common but underappreciated causes of rare diseases. Complex genomic rearrangements involving two or more SVs in cis are incredibly challenging to detect. LÄS MER

  7. 25. Optic nerve hypoplasia in children : prevalence, associated disorders and genetic causes

    Författare :Sara Dahl; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Optic nerve hypoplasia (ONH) is a congenital ocular malformation with a thin optic nerve in one or both eyes. ONH has been associated with neurodevelopmental disorders and pituitary dysfunction, but the prevalence of these comorbidities are still unknown, especially in children with less severe visual impairment and unilateral disease. LÄS MER