Search for dissertations about: "Type 2: genetics"

Showing result 1 - 5 of 178 swedish dissertations containing the words Type 2: genetics.

  2. 1. Application of Genomic and Expression Arrays for Identification of new Cancer Genes

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

    Abstract : 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. READ MORE

  4. 2. Development and Application of Microarray-Based Comparative Genomic Hybridization : Analysis of Neurofibromatosis Type-2, Schwannomatosis and Related Tumors

    Author : Patrick Buckley; Jan Dumanski; Olivier Delattre; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Genomic microarray; Array-CGH; DNA copy number variation; Neurofibromatosis type-2; Schwannomatosis; Schwannoma; Meningioma; NF2; Chromosome 22; Genetik; Clinical genetics; Klinisk genetik;

    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

  5. 3. Development and Application of Human Chromosome 22 Genomic Microarray : Chromosome 22-Associated Disorders Analyzed by Array-Based Comparative Genomic Hybridization

    Author : Magdalena Benetkiewicz; Jan Dumanski; Niklas Dahl; Frank Speleman; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; DNA copy number changes; chromosome 22; genomic microarray; array-CGH; schwannoma; neurofibromatosis type 2; ovarian carcinoma; breast cancer; Wilms tumor; Genetik; Genetics; Genetik;

    Abstract : The array-based form of comparative genomic hybridization (array-CGH) is a new methodology that has shown to be of significant importance. This thesis focuses on the development of array-CGH with the aim to define candidate regions/genes on chromosome 22 in a wide spectrum of cancer-related conditions. READ MORE

  6. 4. Molecular investigation of mucopolysaccharidosis type II (Hunter syndrome) in man

    Author : Stanislav L. Karsten; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; mucopolysaccharidosis type II; Hunter syndrome; MPSII; iduronate-2-sulfatase; mutational analysis; homologous nonhomologous recombination; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Abstract : Mucopolysaccharidosis type II or Hunter syndrome is a rare lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS). The disorder is inherited in an X-linked recessive fashion and has a broad spectrum of clinical phenotypes ranging from severe to mild. READ MORE

  7. 5. Site-Specific Recombination : Integrases, Accessory Factors and DNA Targets of P2-like Coliphages

    Author : Lina Sylwan; Elisabeth Haggård-Ljungquist; Margaret C. M. Smith; Stockholms universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Genetics; Genetik; molekylärgenetik; Molecular Genetics;

    Abstract : The temperate coliphage P2 and its family members integrate their genomes into the host Escherichia coli chromosome by a site-specific recombination mechanism to form lysogeny. Integration takes place between the complex phage attP site and the simple bacterial attB site and is catalyzed by the phage encoded integrase (Int). READ MORE