Sökning: "CHD7"

Hittade 3 avhandlingar innehållade ordet CHD7.

  1. 1. Understanding the role of long non-coding RNAs in neuroblastoma development and progression

    Författare :Sanhita Mitra; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neuroblastoma; Long non-coding RNAs; NBAT1; NRSF REST; CASC15; chromosome 6p22; SOX9; USP36; CHD7; p53; CRM1; MDM2;

    Sammanfattning : Neuroblastoma (NB), a common cancer of childhood, contributes to 15% of all pediatric cancer deaths. The improper neuronal differentiation of neural crest cells to mature neurons in the sympathetic nervous system leads to NB tumor formation. LÄS MER

  2. 2. Genetic studies of neurodevelopmental disorders

    Författare :Josephine Wincent; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP;

    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

  3. 3. Clinical and molecular genetic characterization of congenital malformations

    Författare :Johanna Winberg; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP;

    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