Search for dissertations about: "DiGeorge"
Found 4 swedish dissertations containing the word DiGeorge.
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1. Microarray-Based Comparative Genomic Hybridization in Neurofibromatoses and DiGeorge Syndrome
Abstract : 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. READ MORE
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2. Characterization of human chromosome 22 : cloning of breakpoints of the constitutional translocation t(11;22)(q23;q11) and detection of small constitutional delections by microarray CGH
Abstract : Chromosome 22 is the second smallest human chromosome, composing approximately 1.5% of the genome. The short arm of this acrocentric chromosome harbors ribosomal genes and the long arm contains the protein coding genes. READ MORE
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3. Newborn screening for severe primary immunodeficiencies
Abstract : Primary immunodeficiencies (PID) are congenital disorders of immune competence, which are mainly characterized by a pathological susceptibility to infection. This is often accompanied by severe recurrent infections with drug-resistant, long progressions. READ MORE
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4. Genetic studies in early embryos with emphasis on preimplantation genetic diagnosis
Abstract : It has been estimated that as much as 70-80% of all human conceptions do not develop to term. A majority of clinically recognisable pregnancies, which are miscarried, contain chromosome abnormalities. However, data from very early embryo development are difficult to obtain. READ MORE