Search for dissertations about: "Noonan syndrome"

Found 4 swedish dissertations containing the words Noonan syndrome.

  2. 1. Genetic and Clinical Investigation of Noonan Spectrum Disorders

    Author : Sara Ekvall; Marie-Louise Bondeson; Göran Andersson; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; RASopathies; Noonan syndrome; neurofibromatosis type 1; neurofibromatosis-Noonan syndrome; RAS-MAPK pathway; mutation; Medical Science; Medicinsk vetenskap;

    Abstract : Noonan spectrum disorders belong to the RASopathies, a group of clinically related developmental disorders caused by dysregulation of the RAS-MAPK pathway. This thesis describes genetic and clinical investigations of six families with Noonan spectrum disorders. READ MORE

  4. 2. Localization of five human genes by clinical and molecular genetic methods

    Author : Mihailo Vujic; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Larsen syndrome; LRS1; Multiple hereditary exostoses; EXT2; Best macular dystrophy; VMD2; Noonan syndrome; NS3; Tripeptidyl peptidase-2; TPP2;

    Abstract : Four of the research projects reported in this thesis start from the gene effects observed in clinical practice. Finding a disease causing gene is challenging, exciting and beneficial for the patient, the family and for the society. READ MORE

  5. 3. RAS-MAPK syndromes - a Clinical and Molecular Investigation

    Author : Anna-Maja Nyström; Marie-Louise Bondeson; Göran Annerén; Anna Wedell; Uppsala universitet; []
    Keywords : 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;

    Abstract : 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. READ MORE

  6. 4. Translational Research of Mendelian Disorders : Applications of Cutting-Edge Sequencing Techniques and Molecular Tools

    Author : Sanna Gudmundsson; Marie-Louise Bondeson; Maria Wilbe; Niklas Dahl; Joris Veltman; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; translational research; Mendelian disorders; intellectual disability; sequencing technologies;

    Abstract : Up to 8% of all live-born children are affected with a congenital disorder. Some are Mendelian disorders of known etiology, but many are of undetermined genetic cause and mechanism, limiting diagnosis and treatment. READ MORE