Sökning: "molekylär medicin genetik och patologi"

Visar resultat 26 - 30 av 52 avhandlingar innehållade orden molekylär medicin genetik och patologi.

  1. 26. Genetic Analyses using Rolling Circle or PCR Amplified Padlock Probes

    Författare :Johan Banér; Sanjay Tyagi; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Molecular medicine; Padlock probes; rolling circle amplification; PCR; genotyping; microarray; expression analysis; Molekylärmedicin; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Medical Genetics; medicinsk genetik;

    Sammanfattning : Padlock probes are useful in a variety of genetic applications, some of which require that the probes are amplified in order to generate detectable signals. Two general padlock amplification methods, RCA and PCR, are discussed in this thesis. LÄS MER

  3. 27. RAS-MAPK syndromes - a Clinical and Molecular Investigation

    Författare :Anna-Maja Nyström; Marie-Louise Bondeson; Göran Annerén; Anna Wedell; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; RAS-MAPK syndromes; Noonan syndrome; Neurofibromatosis type I; cardio-facio-cutaneous syndrome; mutation; multiplex ligation-dependent probe amplification; gene; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Klinisk genetik; Clinical Genetics;

    Sammanfattning : The RAS-MAPK syndromes are a group of clinically and genetically related disorders, characterized by cardiac defects, facial dysmorphism, cutaneous abnormalities and neurocognitive impairment. The pathogenesis is dysregulation of the RAS-MAPK pathway, and several genes within the pathway are involved. LÄS MER

  4. 28. Biomarker Discovery in Cutaneous Malignant Melanoma : A Study Based on Tissue Microarrays and Immunohistochemistry

    Författare :Margrét Agnarsdóttir; Fredrik Ponten; Peter Naredi; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; antibody-based proteomics; automated analysis; biomarker; immunohistochemistry; malignant melanoma; survival; tissue microarray; Tumour biology; Tumörbiologi; Pathology; Patologi; Molecular medicine; Molekylär medicin; Medical Science; Medicinsk vetenskap; Pathology; Patologi;

    Sammanfattning : The incidence of cutaneous malignant melanoma has increased dramatically in Caucasians the last few decades, an increase that is partly explained by altered sun exposure habits. For the individual patient, with a localized disease, the tumor thickness of the excised lesion is the most important prognostic factor. LÄS MER

  5. 29. Multi-omics analysis of relapsed acute myeloid leukemia

    Författare :Svea Stratmann; Linda Holmfeldt; Caroline Heckman; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Acute myeloid leukemia AML ; relapse and resistance; next generation sequencing WGS WES ; RNA-sequencing; DNA methylation; HiRIEF LC-MS; proteogenomics; Molekylär medicin; Molecular Medicine;

    Sammanfattning : The prognosis for patients suffering from acute myeloid leukemia (AML) remains unsatisfactory and survival is often measured in months. Although the majority of patients achieve complete remission after aggressive treatment, most of them relapse within a few years. LÄS MER

  7. 30. Microfluidic and Molecular Tools for Genetic Analyses

    Författare :Henrik Johansson; Mats Nilsson; Ivo Gut; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; microfluidics; PCR; sequencing; cancer genetics; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Methods that enable interrogation of multiple genomic regions in parallel are very useful for efficient detection of genetic variation. Two different types of probes are described in this thesis that can be used for direct analysis or for sample preparation upstream of Next Generation Sequencing. LÄS MER