Search for dissertations about: "Mosaicism"

Showing result 1 - 5 of 20 swedish dissertations containing the word Mosaicism.

  2. 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; 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

  4. 2. Studies of genetic mosaicism in rare diseases

    Author : Sofia Frisk; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Mosaicism in human genetics refers to an individual harboring two or more genetic compositions, all derived from the same fertilized egg. Common signs of genetic mosaicism are asymmetric growth, skin aberrations or vascular malformations. READ MORE

  5. 3. Mosaic loss of chromosome Y : methods for detection and consequences for affected leukocytes and men

    Author : Marcus Danielsson; Lars A. Forsberg; Ståhl Patrik; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; mosaic loss of chromosome Y; mLOY; somatic mosaicism; Medicinsk genetik; Medical Genetics;

    Abstract : It has been known for centuries that men live shorter lives than women, but until recently, the biological mechanisms driving this sex bias has been poorly understood. Mosaic loss of chromosome Y (mLOY) refers to chromosome Y aneuploidy, a male specific and the most common somatic mutation in human blood cells. READ MORE

  6. 4. 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 : 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

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

    Author : Erik Iwarsson; Karolinska Institutet; Karolinska Institutet; []
    Keywords : 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