Sökning: "array-CGH"

Visar resultat 11 - 15 av 37 avhandlingar innehållade ordet array-CGH.

1. 11. Genetic and epigenetic characterization of pediatric high hyperdiploid acute lymphoblastic leukemia

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

   Sammanfattning : 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. LÄS MER

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

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

   Sammanfattning : 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. LÄS MER

4. 13. Aspects on local recurrence after rectal cancer surgery

   Författare :Karl Kodeda; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Rectal neoplasms; Neoplasms recurrence; local; Methodology; Rectal washout; Rectal irrigation; Anterior resection; Quality assurance registry; Follow-up; Array-CGH; Tumour DNA;

   Sammanfattning : Background: Local recurrence after rectal cancer surgery has a profound impact on affected patients’ lives. The overall aim of this thesis was to acquire a deeper understanding of local recurrence after rectal cancer surgery, with a long-term hope of minimising the incidence and mitigating the effects. LÄS MER

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

   Författare :Helena Nord; Teresita Díaz de Ståhl; Jan Dumanski; Susan Pfeifer; Blomquist Erik; Segersten Ulrika; David Gisselsson Nord; Uppsala universitet; []
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER

7. 15. Array-based Genomic and Epigenomic Studies in Healthy Individuals and Endocrine Tumours

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

   Sammanfattning : 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. LÄS MER