Search for dissertations about: "familial CH"

Found 2 swedish dissertations containing the words familial CH.

  2. 1. Molecular investigations on chromosome 21 in relation to Down syndrome and familial congenital hypothyroidism

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

    Abstract : 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. READ MORE

  4. 2. Clinical and genetic aspects on cluster headache

    Author : Christina Sjöstrand; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Cluster headache; natural history; familial CH; atypical CH; genetics; association; linkage; gene expression;

    Abstract : Cluster headache (CH), a primary neurovascular headache syndrome, is characterized by recurrent, unilateral, short-lasting attacks of excruciating pain in the temporal region. The pain is considered one of the most severe pain conditions known to humans. READ MORE