Search for dissertations about: "SNP array"

Showing result 6 - 10 of 43 swedish dissertations containing the words SNP array.

2. 6. Genetic and epigenetic characterization of pediatric high hyperdiploid acute lymphoblastic leukemia

   Author : Josef Davidsson; Avdelningen för klinisk genetik; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; high hyperdiploid ALL; children; chromosome aberration; methylation profiling; array CGH; relapse; SNP array; clonal relationship; dup 1q ;

   Abstract : The aim of this thesis was to analyze the genetic and epigenetic characteristics of pediatric high hyperdiploid acute lymphoblastic leukemia (HeH ALL), the most common type of childhood malignancy. The three original articles presented in this thesis have addressed three major questions regarding HeH ALL: what are the genetic characteristics of the most common structural abnormality – dup(1q)? Are aberrant methylation patterns involved in leukemogenesis? How do diagnostic and relapse samples relate to each other genetically? In article I we found that the proximal breakpoints of dup(1q)-positive Burkitt lymphomas (BL) and pediatric HeH ALLs cluster close to the centromere, suggesting this region to be breakprone, and that five genes on 1q were significantly overexpressed and thus potentially pathogenetically important. READ MORE

4. 7. Genetic and Epigenetic Profiling of Mantle Cell Lymphoma and Chronic Lymphocytic Leukemia

   Author : Anna Margrét Halldórsdóttir; Richard Rosenquist; Reiner Siebert; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; mantle cell lymphoma; chronic lymphocytic leukemia; copy number aberration; proliferation signature; TP53; SNP array; methylation array; Haematology; Hematologi; Clinical genetics; Klinisk genetik; Molecular biology; Molekylärbiologi; Tumour biology; Tumörbiologi; Medical Genetics; Medicinsk genetik; Oncology; Onkologi; Molekylär medicin; Molecular Medicine; Pathology; Patologi;

   Abstract : Mantle cell lymphoma (MCL) and chronic lymphocytic leukemia (CLL) both belong to the group of mature B-cell malignancies. However, MCL is typically clinically aggressive while the clinical course of CLL varies. READ MORE

5. 8. Evaluation of New Technologies for Forensic DNA Analysis

   Author : Anna-Maria Divne; Marie Allen; Joakim Lundeberg; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; STR; SNP; SIDS; mtDNA; HVI HVII SSOP linear array; minisequencing; tag arrays; Pyrosequencing; Genetik; Clinical genetics; Klinisk genetik;

   Abstract : DNA samples from crime scenes or mass disasters are often limited and degraded which limits the possibility of successful traditional STR analysis. Moreover, there is a need to decrease the turnaround time in criminal investigations. READ MORE

6. 9. Genotype-phenotype studies in brain tumors

   Author : Soma Ghasimi; Ulrika Andersson; Beatrice Melin; Roger Henriksson; Clemens Dirven; Umeå universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Glioma; Meningioma; SNP; IHC; FISH; LRIG2; EGF; EGFR; ERBB2; ER; CDKN2A B; IDH1; onkologi; Oncology;

   Abstract : Meningioma and glioma are the most common primary brain tumors, but their etiologies are largely unknown. Although meningioma is usually benign, their intracranial location can lead to lethal consequences, and despite progress in surgery, radiotherapy, and chemotherapy the prognosis for patients with glioma remains poor. READ MORE

7. 10. CYTOGENETIC AND MOLECULAR GENETIC CHARACTERIZATION OF LIPOMAS

   Author : Hammurabi Bartuma; Avdelningen för klinisk genetik; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; soft tissue tumors; adipocytic tumors; conventional lipomas; spindle cell lipoma; HMGA2; cytogenetic; molecular genetic; SNP array; GGE;

   Abstract : The focus of this thesis was to study cytogenetic and molecular genetic aberrations in lipomas. For this purpose, chromosome banding analysis, fluorescence in situ hybridization (FISH), as well as high resolution single nucleotide polymorphism (SNP)–arrays were used to identify recurrent chromosomal aberrations in lipomas. READ MORE