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Visar resultat 21 - 25 av 37 avhandlingar som matchar ovanstående sökkriterier.

  1. 21. Genetic characterization of hematological malignancies with focus on mantle cell lymphoma

    Författare :Emma Flordal Thelander; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Lymphoid cancer affects about 2000 individuals in Sweden every year. Lymphoma is divided into numerous subclasses based on histopathological and phenotypic characterization, however, for some lymphoma entities, the classification criteria are insufficient and clinical diversity is seen in cases of the same diagnosis. LÄS MER

  2. 22. Genetic characterization of malignant melanoma and breast cancer

    Författare :Göran B Jönsson; Bröstcancer-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; oncology; Cytology; microarray; inherited breast cancer; Melanoma; linkage analysis; cancer; Cytologi; cancerology; onkologi;

    Sammanfattning : Malignant melanoma and breast cancer are common malignant diseases characterized by considerable heterogeneity with respect to genetics, histopathology, biology and clinical course. In breast cancer, two major susceptibility genes have been identified, BRCA1 and BRCA2, which account for a significant proportion of high-risk breast cancer families. LÄS MER

  3. 23. Trisomies in Hematologic Malignancies

    Författare :Kajsa Paulsson; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Clinical genetics; Klinisk genetik; cytogenetik; Genetik; cytogenetics; Genetics; leukemia; chromosome aberration; trisomy;

    Sammanfattning : Acquired clonal chromosome aberrations, closely associated with leukemogenesis, are found in many hematologic malignancies. Although the balanced rearrangements, such as translocations and inversions, are the ones most commonly thought of in the context of leukemias, gains of chromosomes ? e.g.. LÄS MER

  4. 24. Genetic studies of neurodevelopmental disorders

    Författare :Josephine Wincent; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Neurodevelopmental disorders (NDDs) constitute a heterogeneous group of disorders that adversely impacts a child’s behavioural and learning processes. Developmental delay (DD) and mental retardation are included among the NDDs and are frequently associated with a wide range of accompanying disabilities such as multiple congenital anomalies and dysmorphic features. LÄS MER

  5. 25. Clinical and molecular genetic characterization of congenital malformations

    Författare :Johanna Winberg; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Congenital malformations are important causes of perinatal mortality and morbidity, and around 4% of children are diagnosed with a malformation during their first year of life. Despite improved surgical treatment, several malformations are associated with lifelong sequelae requiring specialized health care. LÄS MER