Search for dissertations about: "Mendelian disorders"

Showing result 1 - 5 of 7 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; Marie-Louise Bondeson; Maria Wilbe; Niklas Dahl; Joris Veltman; [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; Niklas Dahl; Ann Nordgren; [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. Personality, stress and risk of Parkinson's disease

    University dissertation from Stockholm : Karolinska Institutet, Dept of Medical Epidemiology and Biostatistics

    Author : Johanna Sieurin; Karolinska Institutet.; Karolinska Institutet.; [2020]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Abstract : The objective of this thesis was to investigate the relationship of personality and stress with subsequent risk of Parkinson’s disease (PD). In Study I, we conducted a population-based cohort study using questionnaire data from the Swedish Twin Registry to explore whether the personality traits, neuroticism and introversion, were associated with later PD risk. READ MORE

  5. 5. 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