Sökning: "trisomy 21"

Visar resultat 1 - 5 av 15 avhandlingar innehållade orden trisomy 21.

  1. 1. Surgical treatment of atrioventricular septal defect

    Författare :Jens Johansson Ramgren; Thoraxkirurgi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; atrioventricular septal defect; Surgery; Echocardiography; trisomy 21; Survival; Reoperation;

    Sammanfattning : .... LÄS MER

  3. 2. Cytogenetic studies of primary and metastatic breast cancer

    Författare :Adewale Adeyinka; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; histokemi; cytokemi; Histologi; tissue culture; cytochemistry; histochemistry; Histology; metastases; prognosis; male breast cancer; breast cancer; trisomy 12; Cytogenetics; chromosomes; vävnadskultur; Clinical genetics; Klinisk genetik;

    Sammanfattning : A series of primary and metastatic breast carcinomas obtained from female and male patients were cytogenetically analysed. Trisomy 12 was identified as a recurrent and sometimes early event in breast carcinogenesis. LÄS MER

  4. 3. 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

  5. 4. Complex genomic rearrangements in rare brain disorders : genetic architecture and molecular consequences

    Författare :Jakob Schuy; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Structural variants (SVs) within the genome, such as deletions, duplications, inversions, and translocations, are common but underappreciated causes of rare diseases. Complex genomic rearrangements involving two or more SVs in cis are incredibly challenging to detect. LÄS MER

  7. 5. Reappraising prognosis in chronic lymphocytic leukemia

    Författare :Panagiotis Baliakas; Richard Brandell Rosenquist; Clemens Wendtner; Uppsala universitet; []
    Nyckelord :CLL; prognosis; Medicinsk genetik; Medical Genetics;

    Sammanfattning : Chronic lymphocytic leukemia (CLL) exhibits remarkable clinical heterogeneity likely reflecting the underlying biological heterogeneity. The genetic landscape of CLL has been recently enriched with mutations within a number of genes proposed as novel prognostic markers. LÄS MER