Sökning: "chromosome aberration"

Visar resultat 21 - 25 av 30 avhandlingar innehållade orden chromosome aberration.

  1. 21. Turner karyotype and childbirth

    Författare :Anna Hagman; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Turner syndrome; obstetric and neonatal outcome; Turner karyotype; pregnancy; maternal characteristics; neonatal chracterisitics;

    Sammanfattning : Turner karyotype and childbirth Anna Hagman, Department of Obstetrics and Gynaecology, Institute of Clinical Sciences, the Sahlgrenska Academy, University of Gothenburg, Sweden, 2013. anna.c.hagman@vgregion. LÄS MER

  3. 22. Glycerol kinase deficiency. Clinical, biochemical, and genetic aspects

    Författare :Christina Hellerud; Göteborgs universitet; []
    Nyckelord :contiguous gene syndrome; diagnose; exercise; fasting; glucose deficit; glycerol; glycerol kinase deficiency; metabolism; molecular modelling; mRNA analysis; mutation; natural history; prognosis; splice-junction analysis; treatment; triglycerides;

    Sammanfattning : Glycerol kinase deficiency (GKD, MIM 307030) is an X-linked recessive inborn error of metabolism occurring isolated or in an Xp contiguous gene syndrome with adrenal hypoplasia and/or Duchenne muscular dystrophy. The gene syndrome is due to deletions in the p21 region on the X chromosome. LÄS MER

  4. 23. Genetics of Two Mendelian Traits and Validation of Induced Pluripotent Stem Cell (iPSC) Technology for Disease Modeling

    Författare :Doroteya Raykova; Niklas Dahl; Ann Nordgren; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Disease modeling; Mendelian disorders; iPSC; Whole exome sequencing; Transcriptome sequencing; Medical Science; Medicinsk vetenskap;

    Sammanfattning : Novel technologies for genome analysis have provided almost unlimited opportunities to uncover structural gene variants behind human disorders. Whole exome sequencing (WES) is especially useful for understanding rare Mendelian conditions, because it reduces the requirements for a priori clinical data, and can be applied on a small number of patients. LÄS MER

  5. 24. Molecular markers reflecting malignant transformation and tumor progression

    Författare :Patricia Stoltzfus; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Molecular markers; interphase fluorescence in situ hytidization; genetic diagnostic test; laminin-5 gamma2 chain; immunohistochemistry; precancerous lesions; invasiveness; breast cancer; cervical squamous cell carcinoma; tongue carcinoma; vulvar carcinoma;

    Sammanfattning : The early detection of neoplastic lesions is most critical in the successful treatment of malignant disease. This thesis investigates molecular targets for an improved detection and diagnosis of cancer by exploring the value of interphase fluorescence in situ hybridization (FISH) to detect specific chromosomal aneuploidies and gene amplifications, and laminin-5 gamma2 chain expression detected by immunohistochemistry as a marker for invasiveness. LÄS MER

  7. 25. Health-Related Quality of Life and Growth Hormone Treatment : Long-term follow-up studies of women with Turner Syndrome and women with osteoporosis

    Författare :Emily Krantz; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Health-related Quality of Life; Growth hormone; Turner syndrome; Postmenopausal osteoporosis;

    Sammanfattning : Introduction Growth Hormone (GH) is used to increase height in Turner Syndrome (TS), the most common sex-chromosome aberration in women. GH is also beneficial for bone mass. However, little is known about how GH treatment affects Health-Related Quality of Life (HRQoL). LÄS MER