Sökning: "Congenital abnormalities"
Visar resultat 6 - 10 av 36 avhandlingar innehållade orden Congenital abnormalities.
6. Congenital heart block : a study of diagnostics, pathogenesis, prognosis and treatment
Sammanfattning : Congenital heart block (CHB) is a rare condition with considerable mortality. In most patients the disease is associated with fetal exposure to maternal SSA-Ro and/or SSB-La autoantibodies (AB) and develops in fetal life. Accuracy in fetal diagnostics is important to distinguish benign from life threatening conditions. LÄS MER
7. Developmental dynamics of cardiac progenitors and their role in congenital heart defects
Sammanfattning : Cardiac progenitors are the fundamental building blocks of the heart and play a central role in the pathogenesis of congenital heart defects. Recent single-cell RNA sequencing studies have revealed that the cell populations in both developing and mature heart are more diverse than previously recognized. LÄS MER
8. Genetic basis of congenital nephrotic syndrome and generation of an animal model
Sammanfattning : Congenital nephrotic syndrome, NPHS1, is a disease highly enriched in Finland with incidence of 1:8200 births. The disease is characterized by massive proteinuria, go % of which is albumin, starting in utero, large placenta, which weighs over 25 % of the child's birth weight, and manifestation of proteinuria soon after birth. LÄS MER
9. Molecular investigations on chromosome 21 in relation to Down syndrome and familial congenital hypothyroidism
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
10. Genetic and Molecular Studies of Two Hereditary Skin Disorders
Sammanfattning : Monogenic disorders, i.e., disorders caused by mutations in a single gene, are rare and clinically heterogeneous conditions. Identification of the genetic cause of monogenic traits can bring new insights into molecular pathways and disease mechanisms. LÄS MER