Sökning: "deletion"

Visar resultat 1 - 5 av 586 avhandlingar innehållade ordet deletion.

  1. 1. The 22q11 deletion syndrome.A clinical and epidemiological study

    Författare :Sólveig Oskarsdóttir; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Nyckelord :22q11 deletion; disability; dysmorphology; incidence; phenotype;

    Sammanfattning : Aims: The aims of this study were to 1) assess the incidence and prevalence of the 22q11 deletion syndrome(22q11DS) in a defined population of western Sweden, 2) to evaluate the presenting phenotype and 3)to investigate the profile of cognitive and nervous system-related disabilities and the resulting handicap,taking into account physical, neurological and psychological aspects.Material and Methods: The incidence was studied in children born in the Western Götaland Region,where Göteborg is the main city, during the years 1991-2000. LÄS MER

  2. 2. Detecting Deletions by Analysis of Genetic Markers in Pedigrees

    Författare :Anna Johansson; Biologiska institutionen; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; cytogenetics; Genetik; Genetics; Biologi; genetic marker; pedigree; Protein S deficiency; Biology; PROS1; deletion; null allele; cytogenetik;

    Sammanfattning : A deletion is defined as a missing piece of a chromosome, ranging in size from as small as a single base pair to as much as an entire arm of a chromosome. Deletions can cause diseases, but may also have a neutral effect in the genome. LÄS MER

  3. 3. Genetic alterations in Scandinavian neuroblastoma tumors

    Författare :Katarina Ejeskär; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neuroblastoma; loss of heterozygozity; deletion; 1p; 3p; CDC2L1; TP73; CORT; FHIT;

    Sammanfattning : The results presented here derive from our efforts to find genes and chromosomal regions of interest in the formation and progression of the childhood tumor neuroblastoma.Neuroblastoma is the most common extracranial solid tumor of childhood. LÄS MER

  4. 4. Activation of murine cytotoxic cells with interelukin-2 and the bacterial superantigen staphylococcal entertoxin A

    Författare :Hans Belfrage; Lund Kirurgi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Immunologi; transplantation; serology; Immunology; cytokine; tolerance; LAK; NK; serologi; CTL; Staphylococcal enterotoxin A; SEA; Interleukin-2; murine; deletion; anergy;

    Sammanfattning : Natural killer (NK) cells and T lymphocytes are the major effector cells that can recognize and kill tumor cells. NK cells have a constitutive cytotoxic activity and kill a wide spectrum of tumor cells while T cells recognize specific tumor antigens and need to be activated through their TCR to differentiate into cytotoxic T lymphocyte (CTL) killers or T helper cells. LÄS MER

  5. 5. Molecular and Clinical Characterization of Syndromes Associated With Intellectual Disability

    Författare :Christian Wentzel; Ann-Charlotte Thuresson; Göran Annerén; Anita Rauch; Uppsala universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; intellectual disability; 22q11.2 duplication syndrome; 6q deletion; 6q duplication; 10p deletion; developmental delay; mental retardation; dysmorphic features; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Intellectual disability (ID) affects approximately 1-3% of the population and is defined as having an IQ below 70 as well as a significant limitation in adaptive behavior.The implementation of chromosomal microarrays (CMA) into the field of clinical genetics has revolutionized the ability to find genetic aberrations responsible for different genetic disorders. LÄS MER