Sökning: "Jan P. Dumanski"

Hittade 5 avhandlingar innehållade orden Jan P. Dumanski.

1. 1. 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

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

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

   Sammanfattning : 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. LÄS MER

4. 3. Microarray-Based Comparative Genomic Hybridization in Neurofibromatoses and DiGeorge Syndrome

   Författare :Kiran K. Mantripragada; Jan P. Dumanski; Peter Lichter; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; array-CGH; neurofibromatoses; neurofibromatosis type 1; neurofibromatosis type 2; schwannomatosis; DiGeorge syndrome; 22q11 syndrome; chromosome 22; genomic microarrays; DNA copy number; Genetik; Clinical genetics; Klinisk genetik;

   Sammanfattning : Microarray-based comparative genomic hybridization (array-CGH) has emerged as a versatile platform with a wide range of applications in molecular genetics. This thesis focuses on the development of array-CGH with a specific aim to approach disease-related questions through improved strategies in array construction and enhanced resolution of analysis. LÄS MER

5. 4. Post-zygotic Genetic Variation in Health and Disease

   Författare :Hamid Reza Razzaghian; Jan P. Dumanski; David Gisselsson Nord; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Post-zygotic genetic variation; monozygotic twins; copy number variation; single nucleotide polymorphism; variable number tandem repeat; Medical Genetics; Medicinsk genetik;

   Sammanfattning : Post-zygotic genetic variation has previously been shown in healthy individuals and linked to various disorders. The definition of post-zygotic or somatic variation is the existence of genetically distinct populations of cells in a subject derived from a single zygote. LÄS MER

7. 5. Breast cancer : Multifocality, heterogeneity, and related genetic signatures

   Författare :Gyula Pekar; Dumanski Jan; Sapino Anna; Uppsala universitet; []
   Nyckelord :breast; breast cancer multifocality; molecular phenotypes; intertumoral heterogeneity; biobanking; gene copy number aberrations;

   Sammanfattning : Breast carcinoma often exhibits a complex subgross morphology and may occupy a large volume of the breast tissue and show unifocal, multifocal or diffuse growth patterns. Expression of estrogen- and progesterone receptors, HER2 overexpression, tumor grade, and proliferative activity allows us to classify breast carcinoma into molecular subgroups (Luminal A, Luminal B, HER2-type, triple negative, and basal-like). LÄS MER