Sökning: "Neurofibromatosis type 1"
Visar resultat 1 - 5 av 10 avhandlingar innehållade orden Neurofibromatosis type 1.
1. Development and Application of Microarray-Based Comparative Genomic Hybridization : Analysis of Neurofibromatosis Type-2, Schwannomatosis and Related Tumors
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
2. Microarray-Based Comparative Genomic Hybridization in Neurofibromatoses and DiGeorge Syndrome
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
3. Genetic and Clinical Investigation of Noonan Spectrum Disorders
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
4. Gastrointestinal stromal tumors. Pathogenetic mechanisms, phenotypic characterization and prognosis
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
5. Gastrointestinal stromal tumours. On diagnosis and treatment
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