Search for dissertations about: "breakpoint mapping"

Showing result 1 - 5 of 6 swedish dissertations containing the words breakpoint mapping.

2. 1. Molecular cytogenetic characterization of chromosome aberrations in soft tissue and bone tumors

   Author : Malin A Nilsson; Avdelningen för klinisk genetik; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetik; cytogenetik; cytogenetics; Genetics; breakpoint mapping; FISH; structural rearrangements;

   Abstract : Bone and soft tissue tumors (BSTT) belong to a diverse group of solid tumors of mesenchymal origin, with a large number of histological types affecting individuals of all ages. The general aim of the present thesis (Articles I-V) was to investigate in detail the genetic aberrations in selected subtypes of benign and malignant BSTT. READ MORE

4. 2. Diamond-Blackfan anemia : Mapping and identification of the disease gene

   Author : Peter Gustavsson; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Diamond-Blackfan anemia; erythropoiesis; positional cloning; chromosome 19q13; ribosomal protein S19 gene; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

   Abstract : This thesis presents the positional cloning of the gene behind Diamond-Blackfan anemia. Evidence for the involvement of ribosomal protein (RP) S19 gene mutations in Diamond-Blackfan anemia is given. This is the first example of a human disease that is directly related to a ribosomal protein. READ MORE

5. 3. Identification of susceptibility genes for dyslexia

   Author : Heidi Anthoni; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : Developmental dyslexia, also known as specific reading disability, is characterized by persistent difficulties in learning to read and spell in spite of adequate intelligence, education, social environment, and normal senses. It is the most common learning disability affecting 5-10% of school-aged children. READ MORE

6. 4. Cytogenetic and molecular analysis of chromosomal rearrangements associated with neuropsychiatric disorders

   Author : Dmitry Tentler; Niels Tommerup; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Mental retardation; autism; Asperger syndrome; chromosomal rearrangement; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

   Abstract : Genetic factors are important in the aetiology of neuropsychiatric disorders. Analysis of chromosomal abnormalities associated with these disorders may provide locus specific information for the identification of candidate genes and, subsequently, for our understanding of brain development and functioning. READ MORE

7. 5. Gene Expression Studies of Hematologic Malignacies

   Author : Anna Andersson; Avdelningen för klinisk genetik; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; extracellular fluids; Haematology; cancer; onkologi; Cytologi; oncology; Cytology; acute myeloid leukemia; acute lymphoblastic leukemia; normal hematopoietic cells; cDNA microarray; gene expression profiling; hematopoiesis; pediatric leukemia; fusion gene; Pediatrics; Pediatri; Clinical genetics; Klinisk genetik; cancerology; Hematologi; extracellulära vätskor;

   Abstract : The general aim of this thesis was to characterize hematologic malignancies using gene expression profiling in order to obtain an improved classification and to study deregulated transcriptional networks in leukemia. In the first study (Article I), the gene expression profiles of hematologic cell lines were analyzed to investigate whether such cell lines maintain expression profiles that are characteristic of their primary genetic changes. READ MORE