Sökning: "breakpoint mapping"
Visar resultat 1 - 5 av 6 avhandlingar innehållade orden breakpoint mapping.
1. Molecular cytogenetic characterization of chromosome aberrations in soft tissue and bone tumors
Sammanfattning : 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. LÄS MER
2. Diamond-Blackfan anemia : Mapping and identification of the disease gene
Sammanfattning : 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. LÄS MER
3. Identification of susceptibility genes for dyslexia
Sammanfattning : 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. LÄS MER
4. Cytogenetic and molecular analysis of chromosomal rearrangements associated with neuropsychiatric disorders
Sammanfattning : 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. LÄS MER
5. Gene Expression Studies of Hematologic Malignacies
Sammanfattning : 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. LÄS MER