Sökning: "congenital hypothyroidism"

Visar resultat 1 - 5 av 9 avhandlingar innehållade orden congenital hypothyroidism.

  1. 1. Evaluation of the Swedish screening programme for congenital hypothyroidism : a clinical and experimental study

    Författare :Adam Ilicki; Uppsala universitet; []
    Nyckelord :MEDICINE; MEDICIN;

    Sammanfattning : .... LÄS MER

  3. 2. Molecular regulation of thyroid development. New mechanisms of normal and defective morphogenesis

    Författare :Henrik Fagman; Göteborgs universitet; []
    Nyckelord :thyroid; congenital hypothyroidism; thyroid dysgenesis; cadherins; pharyngeal arch arteries; Shh; Tbx1;

    Sammanfattning : Congenital hypothyroidism (CH) is untreated a major cause of mental retardation. The majority of cases are due to malformations of the gland (dysgenesis). Little is known of molecular mechanisms regulating thyroid morphogenesis. LÄS MER

  4. 3. Transcriptional regulation of thyroid development possible interplay of endoderm- and mesoderm-derived morphogenetic signals

    Författare :Jessica Westerlund; Göteborgs universitet; []
    Nyckelord :thyroid; congenital hypothyroidism; dysgenesis; Tbx1; Shh; Isl1; Foxa2; C-cells;

    Sammanfattning : Congenital hypothyroidism (CH) affects 1 in 3000 children and is the major cause of treatable mental retardation. Most cases are due to malformations of the gland, collectively named thyroid dysgenesis. The disease results from defective thyroid organogenesis during embryonic life. LÄS MER

  5. 4. Molecular investigations on chromosome 21 in relation to Down syndrome and familial congenital hypothyroidism

    Författare :Bodil Edman Ahlbom; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Sammanfattning : Chromosomal abnormalities as well as mutations in single genes are genetic changes that can cause syndromes or inherited diseases. Down syndrome (DS), usually a consequence of trisomy 21, is a gene dosage disorder caused by an extra copy of genes on chromosome 21, but the mechanisms whereby specific genes contribute to the clinical features of DS are not known. LÄS MER

  7. 5. Early childhood thymectomy - impact on immune function

    Författare :Judith Gudmundsdottir; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Immunologi; Thymus; Pediatric cardiac surgery; Congenital heart defect;

    Sammanfattning : Introduction: The thymus is the site of T cell maturation. Children born with a congenital heart defect often endure surgery early in life, and during surgery their thymus is routinely removed, as it blocks the surgeons access to the heart. LÄS MER