Search for dissertations about: "Mendelian disorders"

Showing result 1 - 5 of 6 swedish dissertations containing the words Mendelian disorders.

  1. 1. Translational Research of Mendelian Disorders Applications of Cutting-Edge Sequencing Techniques and Molecular Tools

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Sanna Gudmundsson; Uppsala universitet.; [2019]
    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

  2. 2. Genetics of Two Mendelian Traits and Validation of Induced Pluripotent Stem Cell (iPSC) Technology for Disease Modeling

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Doroteya Raykova; Uppsala universitet.; [2015]
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Disease modeling; Mendelian disorders; iPSC; Whole exome sequencing; Transcriptome sequencing; Medical Science; Medicinsk vetenskap;

    Abstract : Novel technologies for genome analysis have provided almost unlimited opportunities to uncover structural gene variants behind human disorders. Whole exome sequencing (WES) is especially useful for understanding rare Mendelian conditions, because it reduces the requirements for a priori clinical data, and can be applied on a small number of patients. READ MORE

  3. 3. Genes of the serotonergic system & susceptibility to psychiatric disorders : A gene-based haplotype approach

    University dissertation from Stockholm : Karolinska Institutet, Department of Clinical Neuroscience

    Author : Ghazal Zaboli; Karolinska Institutet.; Karolinska Institutet.; [2006]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Borderline Personality Disorder; Candidate genes; Case-control; Depression; Gene-based haplotypes; Linkage Disequilibrium; Schizophrenia; SNP.;

    Abstract : Psychiatric disorders are complex, non-mendelian disorders. Complex disorders are ultimately determined by a number of genetic and environmental factors, and the effect of each factor may be obscured or confounded by others. READ MORE

  4. 4. Genetic studies of susceptibility to inflammation, autoimmunity, and hematological malignancy

    University dissertation from Stockholm : Karolinska Institutet, Dept of Women's and Children's Health

    Author : Bianca Tesi; Karolinska Institutet.; Karolinska Institutet.; [2017]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Abstract : The immune system represents the body’s defense against infectious organisms. Inborn defects of the immune system, called primary immunodeficiencies (PIDs), are a heterogeneous group of Mendelian disorders. Clinically, PIDs can cause isolated to broad susceptibility to pathogens, severe hyperinflammation, autoimmunity, allergy, and cancer. READ MORE

  5. 5. Candidate gene analyses and genome-wide screens in multiple sclerosis

    University dissertation from Stockholm : Karolinska Institutet, Department of Clinical Neuroscience, Occupational Therapy and Elderly Care Research (NEUROTEC)

    Author : Vilmantas Giedraitis; Karolinska Institutet.; Karolinska Institutet.; [2002]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Abstract : Specific disease causing mutations have been identified for many disorders. Most of these disorders are of Mendelian origin and there have been very few successful attempts in the genetic dissection of complex traits. READ MORE