Search for dissertations about: "chromosome rearrangements"
Showing result 6 - 10 of 54 swedish dissertations containing the words chromosome rearrangements.
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6. Cryptic chromosome abnormalities in idiopathic mental retardation
Abstract : Mental retardation is a common disorder, affecting 1-3% of the population. In spite of improved diagnostic tools, the etiology can still not be established in half of the cases. Several lines of evidence indicate a genetic origin in a significant number of individuals with idiopathic mental retardation. READ MORE
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7. Trisomies in Hematologic Malignancies
Abstract : Acquired clonal chromosome aberrations, closely associated with leukemogenesis, are found in many hematologic malignancies. Although the balanced rearrangements, such as translocations and inversions, are the ones most commonly thought of in the context of leukemias, gains of chromosomes ? e.g.. READ MORE
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8. Rates and patterns of genome evolution in Lepidoptera
Abstract : The evolutionary consequences of genome restructuring and chromosomal rearrangements can be significant, but the underlying mechanisms are poorly understood. This thesis explores the relationships between genome restructuring, recombination, and maintenance of genetic diversity in different butterfly species. READ MORE
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9. Exploring the multiscale 3D architecture of human chromosome contact networks
Abstract : Cells regulate genes to coordinate essential functions allowing cells to grow, divide, specialize, and respond to stresses. While regulatory proteins are the most common way to control these genes, the DNA’s 3D structure also plays a critical role as it affects how proteins access genes and how regulatory DNA elements interact over large genomic distances. READ MORE
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10. Analysis of Genetic Alterations in Patients Affected with Neurofibromatosis Type 2 and its Associated Tumors
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