Search for dissertations about: "Mosaicism"

Showing result 1 - 5 of 16 swedish dissertations containing the word Mosaicism.

  1. 1. Somatic Genetic Variation in Children: from Mosaicism to Cancer

    Author : Anders Valind; Avdelningen för klinisk genetik; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICAL AND HEALTH SCIENCES; Somatic Mosaicism; Cancer; Tumor heterogeneity; Neuroblastoma; Wilms Tumor; Rhabdomyosarcoma; Aneuploidy;

    Abstract : This thesis concerns various aspects of somatic mosaicism and genetic intratumor heterogeneity in childhood cancer.In paper I, I show that aneuploidy in itself does not lead to the level of chromosomal instability that is typically seen in malignant cells. This finding strongly argues against the so called autocatalytic theory of carcinogenesis. READ MORE

  2. 2. 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 : NATURAL SCIENCES; NATURVETENSKAP; 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

  3. 3. Genetic studies in early embryos with emphasis on preimplantation genetic diagnosis

    Author : Erik Iwarsson; Karolinska Institutet; Karolinska Institutet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; chromosomal abnormality 1 embryo fluorescent in situ hybridisation FISH 1 in vitro fertilisation IVF 1 preimplantation genetic diagnosis PGD ;

    Abstract : It has been estimated that as much as 70-80% of all human conceptions do not develop to term. A majority of clinically recognisable pregnancies, which are miscarried, contain chromosome abnormalities. However, data from very early embryo development are difficult to obtain. READ MORE

  4. 4. Clinical and molecular genetic characterization of congenital malformations

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

    Abstract : Congenital malformations are important causes of perinatal mortality and morbidity, and around 4% of children are diagnosed with a malformation during their first year of life. Despite improved surgical treatment, several malformations are associated with lifelong sequelae requiring specialized health care. READ MORE

  5. 5. Preimplantation genetic diagnosis : evaluation of results and experiences

    Author : Katarina Haapaniemi Kouru; Karolinska Institutet; Karolinska Institutet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP;

    Abstract : Preimplantation genetic diagnosis (PGD) is an established alternative for couples at high risk of having an affected child, with the advantage that the genetic testing is performed at the embryo stage and the couple can thereby avoid a pregnancy termination of an affected foetus. The disadvantage is that an IVF treatment is required, which can be a stressful experience. READ MORE