Search for dissertations about: "genomic disorder"
Showing result 1 - 5 of 53 swedish dissertations containing the words genomic disorder.
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1. Development and Application of Microarray-Based Comparative Genomic Hybridization : Analysis of Neurofibromatosis Type-2, Schwannomatosis and Related Tumors
Abstract : Neurofibromatosis type-2 (NF2) is an autosomal dominant disorder with the clinical hallmark of bilateral eighth cranial nerve schwannomas. However, the diagnostic criterion is complicated by the presence of a variable phenotype, with the severe form presenting with additional tumors such as peripheral schwannoma, meningioma and ependymoma. READ MORE
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2. Integration of functional genomics and data mining methodologies in the study of bipolar disorder and schizophrenia
Abstract : Bipolar disorder and schizophrenia are two severe psychiatric disorders characterized by a complex genetic basis, coupled to the influence of environmental factors. In this thesis, functional genomic analysis tools were used for the study of the underlying pathophysiology of these disorders, focusing on gene expression and function on a global scale with the application of high-throughput methods. READ MORE
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3. Genomic screening and causes of rare disorders
Abstract : Congenital disorders affect approximately 3-4% of all children and often cause chronic disabilities with significant impact on the lives of affected individuals and their families as well as on the health-care system. These disorders constitute a large and heterogeneous group of disorders with most of them being rare (prevalence ... READ MORE
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4. Genomic studies of expanded trinucleotide repeats : focus on neuropsychiatric disorders
Abstract : In a number of neurological and neuropsychiatric disorders, a worsening of the disease phenotype from one generation to the next has been linked to expanded trinucleotide repeat sequences that increase in size upon transmission. The clinical phenomenon of an earlier age of onset or a more severe phenotype in later generations of a family has been termed anticipation. READ MORE
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5. Characterization of transcription of genomic regions harboring HERV-W elements
Abstract : Human endogenous retroviruses (HERV) comprise 8% of the human genome and can be classified into at least 31 families. A typical HERV provirus consists of internal gag, pol and env genes, flanked by two long terminal repeats (LTRs). HERV are by nature repetitive and have with few notable exceptions lost their protein-coding capacity. READ MORE