Browsing Institutt for klinisk medisin by Title
Now showing items 2013-2032 of 5326
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(Journal article / Tidsskriftartikkel / AcceptedVersion; Peer reviewed, 2020)Background and purpose: Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in MECP2. The diagnostic criteria of RTT are clinical; mutations in MECP2 are neither diagnostic nor necessary, and a ...
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(Doctoral thesis / Doktoravhandling, 2020)Migraine is a common disorder, but there is still little knowledge about what causes it. However, it is likely to involve a complex interplay of genetic and environmental factors. The overall aim of the thesis was to ...
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Genetic and epigenetic regulation in spermatogenesis in mice : lessons from Alkbh1 and Tzfp mutants (Doctoral thesis / Doktoravhandling, 2012)
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(Doctoral thesis / Doktoravhandling, 2017)
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(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)Background: Congenital long‐QT syndrome (LQTS) is a genetic disorder characterized by prolongation of the corrected QT interval (QTc) on an ECG. The aim of the present study was to estimate the prevalence of pathogenic and ...
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(Journal article / Tidsskriftartikkel / SubmittedVersion, 2019)Aims/hypothesis MODY can be wrongly diagnosed as type 1 diabetes in children. We aimed to find the prevalence of MODY in a nationwide population-based registry of childhood diabetes. Methods Using next-generation ...
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(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2019)Background/Aim: Myoid hamartoma of the breast is a very rare benign lesion of which only a few cases have been reported. The pathogenesis is unknown and nothing is known about its genetic constitution. We report here the ...
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(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2012)Background Treatment outcome of low back pain (LBP) is associated with inter-individual variations in pain relief and functional disability. Genetic variants of catechol-O-methyltransferase (COMT) gene have ...
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(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2015)General cognitive function is substantially heritable across the human life course from adolescence to old age. We investigated the genetic contribution to variation in this important, health- and well-being-related trait ...
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(Journal article / Tidsskriftartikkel / AcceptedVersion; Peer reviewed, 2017)The most recent genome-wide association studies (GWAS) of schizophrenia (SCZ) identified hundreds of risk variants potentially implicated in the disease. Further, novel statistical methodology designed for polygenic ...
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(Journal article / Tidsskriftartikkel / AcceptedVersion; Peer reviewed, 2017)Norway has one of the highest rates of death due to prostate cancer (PCa) in the world. To assess the contribution of both common and rare single nucleotide variants (SNPs) to the prostate cancer burden in Norway, we ...
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(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2019)Background: Alzheimer’s disease (AD) and bipolar disorder (BIP) are complex traits influenced by numerous common genetic variants, most of which remain to be detected. Clinical and epidemiological evidence suggest that AD ...
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(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2014)Converging evidence implicates immune abnormalities in schizophrenia (SCZ), and recent genome-wide association studies (GWAS) have identified immune-related single-nucleotide polymorphisms (SNPs) associated with SCZ. Using ...
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(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2016)Background Ductal carcinoma in situ (DCIS) is a non-invasive form of breast cancer. It is often associated with invasive ductal carcinoma (IDC), and is considered to be a non-obligate precursor of IDC. It ...
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(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2019)To determine if any association between previously identified alleles that confer risk for Parkinson disease and variables measuring disease progression.We evaluated the association between 31 risk variants and variables ...
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(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2015)Bone Mineral Density (BMD) is a highly heritable trait, but genome-wide association studies have identified few genetic risk factors. Epidemiological studies suggest associations between BMD and several traits and diseases, ...
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(Doctoral thesis / Doktoravhandling, 2019)Back pain is a common and major source of disability. Although the majority of patients recover, 10–20% develops persistent pain. Twin studies estimate the heritability regarding back pain to 30-40%. Such studies measure ...
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(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2016)Background and purpose The effects of single‐nucleotide polymorphisms (SNP s) on the cognitive function of opioid‐treated patients with cancer until now have not been explored, but they could potentially be related to ...
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(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2014)Introduction We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone ...
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(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)Schizophrenia is a serious psychotic disorder with high heritability. Several common genetic variants, rare copy number variants and ultra-rare gene-disrupting mutations have been linked to disease susceptibility, but there ...