Sökning: "Avdelningen för klinisk genetik"

Visar resultat 31 - 35 av 91 avhandlingar innehållade orden Avdelningen för klinisk genetik.

  1. 31. Neuromuscular disorders in childhood. Epidemiology and characterization of a new myopathy

    Författare :Niklas Darin; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neuromuscular disorders; epidemiology; mitochondrial encephalomyopathy; hereditary inclusion-body myopathy; myosin heavy-chain IIa; childhood;

    Sammanfattning : Neuromuscular disorders can be subdivided into anterior horn cell disorders, neuropathies, myasthenic disorders and myopathies. Some multisystem disorders, such as myotonic dystrophy and mitochondrial encephalomyopathies, are traditionally also included. LÄS MER

  3. 32. Factors influencing outcome in patients with obstructive hypertrophic cardiomyopathy - Effects of pharmacotherapy, pacing and surgical myectomy

    Författare :Davood Javidgonbadi; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hypertrophic obstructive cardiomyopathy; myectomy; pacing; beta-blocker; survival; sex; re-intervention rate;

    Sammanfattning : Background: Most studies on risk factors for disease-related mortality in hypertrophic cardiomyopathy (HCM) have emanated from specialized tertiary centres which are subject to possible referral bias. About one quarter of HCM-patients have outflow obstruction in the left ventricle, hypertrophic obstructive cardiomyopathy (HOCM). LÄS MER

  4. 33. Genomic instability and genetic heterogeneity in neuroblastoma tumours

    Författare :Niloufar Javanmardi; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neuroblastoma tumour; subclone; mutation; relapse; deep sequencing; tumour supressor gene;

    Sammanfattning : Neuroblastoma (NB), a tumour of the sympathetic nervous system and the most common malignant disease of early childhood, is responsible for 9% of paediatric cancer related deaths. Aggressive NB still constitutes a major clinical problem with survival rates of about 35%. LÄS MER

  5. 34. THE ANDROGEN RECEPTOR GGN POLYMORPHISM. Genetic and functional analyses

    Författare :Kristina Lundin; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medicine human and vertebrates ; Functional domain; Genetic predisposition; Reproductive function; Sex hormone; Transactivation function; Repeat; Polymorphism; Androgen receptor; Transcription factor; Medicin människa och djur ; Endocrinology; secreting systems; diabetology; Endokrinologi; sekretion; diabetologi;

    Sammanfattning : Male sex development and reproductive function is regulated by androgens acting via the androgen receptor (AR). The AR harbours two polymorphic repeats of CAG and GGN triplets, encoding glutamines and glycines, respectively. LÄS MER

  7. 35. Foxf2 and Foxc2, two transcription factors that regulate adipocyte metabolism

    Författare :Rickard Westergren; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; forkhead genes; insulin signaling; glucose metabolism; adipose tissue; angiogenesis; Foxc2; Foxf2; Irs1; insulin resistance; Ang-2;

    Sammanfattning : Type 2 diabetes is the most common metabolic disorder today and has reached epidemic proportions in many countries. Diet-induced insulin resistance plays a central role in the development of type 2 diabetes. LÄS MER