Sökning: "Göran Annerén"

Hittade 5 avhandlingar innehållade orden Göran Annerén.

  1. 1. Down's syndrome : a metabolic and endocrinological study

    Författare :Göran Annerén; Uppsala universitet; []
    Nyckelord :MEDICINE; MEDICIN;

    Sammanfattning : .... LÄS MER

  3. 2. Down syndrome : Growth and endocrine impact

    Författare :Åsa Myrelid; Jan Gustafsson; Göran Annerén; Ann-Christine Lindgren; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Down syndrome; growth; growth charts; body proportions; growth hormone; thyroid function; metabolism; body composition; cognition; motor development; Downs syndrom; tillväxt; tillväxtkurvor; kroppsproportioner; tillväxthormon; sköldkörtelfunktion; metabolism; kroppssammansättning; kognitiv förmåga; motorisk utveckling; Paediatric medicine; Pediatrisk medicin; pediatrik; Pediatrics;

    Sammanfattning : Down syndrome (DS) is associated with psychomotor retardation, short stature and endocrine dysfunction. Statural growth is a well-known indicator of health. The growth in DS differs markedly from that of other children and there is a 20 cm reduction of final height as compared to target height. LÄS MER

  4. 3. RAS-MAPK syndromes - a Clinical and Molecular Investigation

    Författare :Anna-Maja Nyström; Marie-Louise Bondeson; Göran Annerén; Anna Wedell; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; RAS-MAPK syndromes; Noonan syndrome; Neurofibromatosis type I; cardio-facio-cutaneous syndrome; mutation; multiplex ligation-dependent probe amplification; gene; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Klinisk genetik; Clinical Genetics;

    Sammanfattning : The RAS-MAPK syndromes are a group of clinically and genetically related disorders, characterized by cardiac defects, facial dysmorphism, cutaneous abnormalities and neurocognitive impairment. The pathogenesis is dysregulation of the RAS-MAPK pathway, and several genes within the pathway are involved. LÄS MER

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

    Författare :Christian Wentzel; Ann-Charlotte Thuresson; Göran Annerén; Anita Rauch; Uppsala universitet; []
    Nyckelord :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

  7. 5. Intellectual Disability and coexisting Autism and ADHD in Down syndrome - a population-based study

    Författare :Ulrika Wester Oxelgren; Jan Gustafsson; Fernell Elisabeth; Åsa Myrelid; Göran Annerén; Maj-Britt Posserud; Uppsala universitet; []
    Nyckelord :Down syndrome; intellectual disability; autism spectrum disorder; attention-deficit hyperactivity disorder; autism phenotype; autism intervention.; Pediatrik; Pediatrics;

    Sammanfattning : The thesis investigated associated neurodevelopmental/neuropsychiatric aspects in a population-based cohort of 60 children and adolescents (5–17 years) with Down syndrome (DS).Forty-one subjects were comprehensively assessed by a clinical research team; 17 (41%) and 14 (34%) met DSM criteria for autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD), respectively. LÄS MER