Search for dissertations about: "methylation array"

Showing result 6 - 10 of 29 swedish dissertations containing the words methylation array.

2. 6. Analysis of Genetic Alterations in Patients Affected with Neurofibromatosis Type 2 and its Associated Tumors

   Author : Caisa Marie Hansson; Jan P. Dumanski; Juha Kere; Uppsala universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; Molecular biology; Neurofibromatosis type 2; schwannoma; schwannomatosis; meningioma; array-CGH; chromosome 22; DNA copy number variation; methylation; Molekylärbiologi; Molecular biology; Molekylärbiologi;

   Abstract : Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder with the clinical hallmark of bilateral vestibular schwannomas (VS). Patients affected by a severe NF2 phenotype also presents with peripheral schwannomas, meningiomas and ependymomas. The closely related disorder schwannomatosis also displays multiple schwannomas, but never VS. READ MORE

4. 7. Genetic and Epigenetic Variation in the Human Genome : Analysis of Phenotypically Normal Individuals and Patients Affected with Brain Tumors

   Author : Cecilia De Bustos; Jan P. Dumanski; Joseph F. Costello; Uppsala universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; genetic variation; epigenetics; brain tumor; array-CGH; glioblastoma; ependymoma; microarray; methylation; Genetik; Genetics; Genetik;

   Abstract : Genetic and epigenetic variation is a key determinant of human diversity and has an impact on disease predisposition. Single nucleotide polymorphisms (SNPs) and copy number polymorphisms (CNPs) are the main forms of genetic variation. The challenge is to distinguish normal variations from disease-associated changes. READ MORE

5. 8. 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; Medicinsk genetik; Medical Genetics; Oncology; Onkologi; Molekylär medicin; Molecular Medicine; Patologi; Pathology;

   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

6. 9. 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

7. 10. DNA methylation patterns in human adipose tissue in relation to diet and type 2 diabetes

   Author : Alexander Perfilyev; Diabetes - epigenetik; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; DNA Methylation; Adipose Tissue; Illumina 450k methylation array; type 2 diabetes;

   Abstract : Type 2 diabetes (T2D) is a common metabolic disease and its prevalence is increasing worldwide. Adipose tissue plays an important role in metabolic processes. Environmental factors may affect metabolic phenotypes and epigenetics may mediate this influence. READ MORE