Sökning: "mendelian genetics"

Visar resultat 1 - 5 av 24 avhandlingar innehållade orden mendelian genetics.

  1. 1. 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

  3. 2. 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

  4. 3. Monogenic Traits Associated with Structural Variants in Chicken and Horse : Allelic and Phenotypic Diversity of Visually Appealing Traits

    Författare :Freyja Imsland; Leif Andersson; Gabriella Lindgren; Kerstin Lindblad-Toh; Eiríkur Steingrímsson; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES; Structural variation; Pigmentation; Domestication; Equids; MNR2; CCDC108; STX17; TBX3; Grey; Dun; non-dun; Rose-comb; Chicken; Genetic mapping; Phenotyping; Molekylär genetik; Molecular Genetics;

    Sammanfattning : Domestic animals have rich phenotypic diversity that can be explored to advance our understanding of the relationship between molecular genetics and phenotypic variation. Since the advent of second generation sequencing, it has become easier to identify structural variants and associate them with phenotypic outcomes. LÄS MER

  5. 4. Genetic factors affecting pregnancy duration in humans

    Författare :Jonas Bacelis; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; genomics; GWAS; Mendelian randomization; causal inference; preterm birth; pregnancy; gestation; height; text mining;

    Sammanfattning : This thesis investigates the mechanisms behind human pregnancy duration. Too short gestation is a direct cause of perinatal, neonatal, and infant mortality. Deviation from normal pregnancy length is also associated with a child's morbidity, even in the adulthood. LÄS MER

  7. 5. Teaching genetics - a linguistic challenge : A classroom study of secondary teachers' talk about genes, traits and proteins

    Författare :Karin Thörne; Niklas Gericke; Anders Arnqvist; Ute Harms; Karlstads universitet; []
    Nyckelord :SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Science education; teaching genetics; teachers talk; mendelian genetics; gene function; systemic functional linguistics; compulsory school; Biology; Biologi;

    Sammanfattning : The overall aim of this thesis is to investigate how teachers talk about genetics in actual classroom situations. An understanding of how language is used in action can give detailed information about how the subject matter is presented to the students as well as insights in linguistic challenges. LÄS MER