Search for dissertations about: "DNA copy number changes"

Showing result 1 - 5 of 33 swedish dissertations containing the words DNA copy number changes.

2. 1. Development and Application of Human Chromosome 22 Genomic Microarray : Chromosome 22-Associated Disorders Analyzed by Array-Based Comparative Genomic Hybridization

   Author : Magdalena Benetkiewicz; Jan Dumanski; Niklas Dahl; Frank Speleman; Uppsala universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; DNA copy number changes; chromosome 22; genomic microarray; array-CGH; schwannoma; neurofibromatosis type 2; ovarian carcinoma; breast cancer; Wilms tumor; Genetik; Genetics; Genetik;

   Abstract : The array-based form of comparative genomic hybridization (array-CGH) is a new methodology that has shown to be of significant importance. This thesis focuses on the development of array-CGH with the aim to define candidate regions/genes on chromosome 22 in a wide spectrum of cancer-related conditions. READ MORE

4. 2. Computational exploration of cancer genomes

   Author : Joakim Karlsson; Göteborgs universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Cancer genomics; Transcriptomics; Driver genes; Copy number changes; Immunogenomics; Cancer of unknown primary; Uveal melanoma;

   Abstract : Cancer evolves due to changes in DNA that give a cell an advantage at the expense of the remaining organism. These alterations range from individual base substitutions to broad losses or duplications of chromosomal material. READ MORE

5. 3. DNA methylation profiling of CNS tumors; implications for clinical diagnostics

   Author : Sandra Ferreyra Vega; Göteborgs universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Central nervous system tumors; DNA methylation; clinical diagnostics; diffuse gliomas; meningiomas; heterogeneity;

   Abstract : Diffuse gliomas and meningiomas are the most common primary tumors of the central nervous system (CNS) in adults and these tumors cause significant morbidity and mortality worldwide. Deregulation of the epigenetic mechanisms, e.g. READ MORE

6. 4. Array-based Genomic and Epigenomic Studies in Healthy Individuals and Endocrine Tumours

   Author : Johanna Sandgren; Gunnar Westin; Teresita Diaz de Ståhl; Göran Åkerström; Ola Hessman; Winand Dinjens; Uppsala universitet; []
   Keywords : genome; copy number variants; cancer; Pheochromocytoma; epigenome; array-CGH; ChIP-chip; gene expression; tumour suppressor genes; oncogenes; MEDICINE; MEDICIN; Kirurgi; Surgery;

   Abstract : The human genome is a dynamic structure, recently recognized to present with significant large-scale structural variation. DNA-copy number changes represent one common type of such variation and is found both between individuals and within the somatic cells of the same individual, especially in disease states like cancer. READ MORE

7. 5. Application of Genomic and Expression Arrays for Identification of new Cancer Genes

   Author : Helena Nord; Teresita Díaz de Ståhl; Jan Dumanski; Susan Pfeifer; Blomquist Erik; Segersten Ulrika; David Gisselsson Nord; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Array-CGH; Expression array; Copy number variation; Glioblastoma; Medulloblastoma; Bladder carcinoma; Oncogenes; Tumor suppressor genes; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Medical genetics; Medicinsk genetik; Tumour biology; Tumörbiologi; Genetics; Genetik; Medical Genetics; Medicinsk genetik;

   Abstract : Copy number variation (CNV) comprises a recently discovered kind of variation involving deletion and duplication of DNA segments of variable size, ranging from a few hundred basepairs to several million. By altering gene dosage levels or disrupting proximal or distant regulatory elements CNVs create human diversity. READ MORE