Sökning: "Mendelian disorders"

Visar resultat 1 - 5 av 10 avhandlingar innehållade orden Mendelian disorders.

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

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

    Sammanfattning : 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. LÄS MER

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

    Författare :Doroteya Raykova; Niklas Dahl; Ann Nordgren; Uppsala universitet; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

  4. 3. Diet and common neurological disorders: cohort studies on dementia, Parkinson’s disease, and stroke

    Författare :Erika Olsson; Susanna C. Larsson; Liisa Byberg; Lena Kilander; Emily Sonestedt; Uppsala universitet; []
    Nyckelord :diet; dietary pattern; Healthy Diet Indicator; Mediterranean diet; low carbohydrate; vitamin D; 25-hydroxyvitamin D; Mendelian randomization; milk; fermented milk; epidemiology; cohort study; Alzheimer’s disease; dementia; cognitive impairment; Parkinson’s disease; stroke; Medicinsk vetenskap; Medical Science;

    Sammanfattning : Risk factors for dementia, Parkinson’s disease, and stroke have been widely studied but there are still research gaps concerning the role of diet for the development of these diseases. The overall aim of this thesis was to investigate whether various aspects of diet are associated with common disorders and diseases in the brain. LÄS MER

  5. 4. Genes of the serotonergic system and susceptibility to psychiatric disorders : a gene-based haplotype approach

    Författare :Ghazal Zaboli; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Borderline Personality Disorder; Candidate genes; Case-control; Depression; Gene-based haplotypes; Linkage Disequilibrium; Schizophrenia; SNP.;

    Sammanfattning : 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. LÄS MER

  7. 5. Personality, stress and risk of Parkinson's disease

    Författare :Johanna Sieurin; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : 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. LÄS MER