Sökning: "medicinsk genetik"

Visar resultat 1 - 5 av 395 avhandlingar innehållade orden medicinsk genetik.

  1. 1. Dissecting the Genetic Basis of Systemic Lupus Erythematosus The Pursuit of Functional Variants

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Angélica María Delgado Vega; Uppsala universitet.; [2013]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Systemic Lupus Erythematosus; SLE; Genetic Mapping; Association Studies; Functional Variants; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Systemisk Lupus Erythematosus; SLE; Genetik; Genetisk Association; Funktionella Varianter; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Lupus Eritematoso Sistémico; LES; Estudios de Asociación Genética; Variantes Funcionales; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Medicinsk genetik; Medical Genetics; Medicinsk vetenskap; Medical Science;

    Sammanfattning : Systemic lupus erythematosus (SLE) is a chronic and systemic autoimmune disease that primarily affects women during the childbearing years. SLE is characterized by the production of autoantibodies against nucleic acids and their interacting proteins. LÄS MER

  2. 2. Assessment of Novel Molecular Prognostic Markers in Chronic Lymphocytic Leukemia

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Mohamed Arifin Bin Kaderi; Uppsala universitet.; [2010]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chronic lymphocytic leukemia; prognostic markers; single nucleotide polymorphisms; RNA-based markers; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics Medical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Klinisk genetik Medicinsk genetik; NATURAL SCIENCES Biology Cell and molecular biology Genetics; NATURVETENSKAP Biologi Cell- och molekylärbiologi Genetik; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Klinisk genetik; INTERDISCIPLINARY RESEARCH AREAS Caring sciences Medical laboratory science; TVÄRVETENSKAPLIGA FORSKNINGSOMRÅDEN Vårdvetenskap Medicinsk laboratorievetenskap; MEDICINE Surgery Oncology; MEDICIN Kirurgi Onkologi; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Internal medicine Haematology; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Invärtesmedicin Hematologi; Klinisk genetik; Clinical Genetics; Molekylär medicin; Molecular Medicine; Oncology; Onkologi; Medicin; Medicine; Medicinsk genetik; Medical Genetics;

    Sammanfattning : The clinical course of chronic lymphocytic leukemia (CLL) is highly heterogeneous, which has prompted the search for biomarkers that can predict prognosis in this disease. The IGHV gene mutation status and certain genomic aberrations have been identified as reliable prognostic markers of clinical outcome for this disorder. LÄS MER

  3. 3. Somatic Mutations in Breast Cancer Genomes Discovery and Validation of Breast Cancer Genes

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Xiang Jiao; Uppsala universitet.; [2012]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; breast cancer; cancer gene; pathway; somatic mutation; structural alteration; sequencing; whole genome amplification; Genetics; Genetik; Medicinsk genetik; Medical Genetics;

    Sammanfattning : Breast cancer is the most common cancer in women worldwide. However, the genetic alterations that lead to breast cancer are not fully understood. This thesis aims to identify novel genes of potential mechanistic, diagnostic or therapeutic interest in breast cancers by mutational analysis and whole-genome sequencing. LÄS MER

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

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Helena Nord; Uppsala universitet.; [2010]
    Nyckelord :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; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Internal medicine Molecular medicine genetics and pathology ; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Invärtesmedicin Molekylär medicin genetik och patologi ; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics Medical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Klinisk genetik Medicinsk genetik; MEDICINE Morphology; cell biology; pathology Morphology Tumour biology; MEDICIN Morfologi; cellbiologi; patologi Morfologi Tumörbiologi; NATURAL SCIENCES Biology Cell and molecular biology Genetics; NATURVETENSKAP Biologi Cell- och molekylärbiologi Genetik; Medicinsk genetik; Medical Genetics;

    Sammanfattning : 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. LÄS MER

  5. 5. Genetics of Two Mendelian Traits and Validation of Induced Pluripotent Stem Cell (iPSC) Technology for Disease Modeling

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Doroteya Raykova; Uppsala universitet.; [2015]
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Disease modeling; Mendelian disorders; iPSC; Whole exome sequencing; Transcriptome sequencing; Medicinsk vetenskap; Medical Science;

    Sammanfattning : Novel technologies for genome analysis have provided almost unlimited opportunities to uncover structural gene variants behind human disorders. Whole exome sequencing (WES) is especially useful for understanding rare Mendelian conditions, because it reduces the requirements for a priori clinical data, and can be applied on a small number of patients. LÄS MER