Sökning: "neurofibromatosis type 1"

Visar resultat 1 - 5 av 10 avhandlingar innehållade orden neurofibromatosis type 1.

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

    Författare :Patrick Buckley; Jan Dumanski; Olivier Delattre; Uppsala universitet; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

  3. 2. Microarray-Based Comparative Genomic Hybridization in Neurofibromatoses and DiGeorge Syndrome

    Författare :Kiran K. Mantripragada; Jan P. Dumanski; Peter Lichter; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; array-CGH; neurofibromatoses; neurofibromatosis type 1; neurofibromatosis type 2; schwannomatosis; DiGeorge syndrome; 22q11 syndrome; chromosome 22; genomic microarrays; DNA copy number; Genetik; Clinical genetics; Klinisk genetik;

    Sammanfattning : 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. LÄS MER

  4. 3. Genetic and Clinical Investigation of Noonan Spectrum Disorders

    Författare :Sara Ekvall; Marie-Louise Bondeson; Göran Andersson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; RASopathies; Noonan syndrome; neurofibromatosis type 1; neurofibromatosis-Noonan syndrome; RAS-MAPK pathway; mutation; Medical Science; Medicinsk vetenskap;

    Sammanfattning : Noonan spectrum disorders belong to the RASopathies, a group of clinically related developmental disorders caused by dysregulation of the RAS-MAPK pathway. This thesis describes genetic and clinical investigations of six families with Noonan spectrum disorders. LÄS MER

  5. 4. Gastrointestinal stromal tumors. Pathogenetic mechanisms, phenotypic characterization and prognosis

    Författare :Johanna Andersson; Göteborgs universitet; []
    Nyckelord :Gastrointestinal stromal tumor GIST ; neurofibromatosis type I NF1 ; mutation; prognosis; denaturating high performance liquid chromatography dHPLC ; sequencing; KIT; PDGFRA; NF1;

    Sammanfattning : Gastrointestinal stromal tumor (GIST), the most common non-epithelial neoplasm of the gastrointestinal tract, has historically been problematic both conceptually and clinically. Recently, GIST has been shown to share phenotypic features with the interstitial cells of Cajal (ICC), including the almost uniform expression of the tyrosine kinase receptor KIT. LÄS MER

  7. 5. Gastrointestinal stromal tumours. On diagnosis and treatment

    Författare :Per Bümming; Göteborgs universitet; []
    Nyckelord :adjuvant; epidemiology; GIST; imatinib; KIT; mutation; neoadjuvant; neuroendocrine phenotype; PET; prognosis; surgery; vesicle proteins;

    Sammanfattning : Gastrointestinal stromal tumours (GIST) are thought to originate from the interstitial cells of Cajal, which show many properties in common with neurons of the gastrointestinal tract. High-risk GIST has a very poor prognosis and tumour recurrence is common after intentionally curative surgery. LÄS MER