Browsing Institutt for klinisk medisin by Title
Now showing items 1993-2012 of 5284
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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 ...
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(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)P2X7 is a nonselective cation channel activated by extracellular ATP. P2X7 activation contributes to the proinflammatory response to injury or bacterial invasion and mediates apoptosis. Recently, P2X7 function has been ...
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(Journal article / Tidsskriftartikkel / AcceptedVersion; Peer reviewed, 2018)Obesity is among the most threatening health burdens worldwide and its prevalence has markedly increased over the last decades. Obesity maybe considered a heritable trait. Identifications of rare cases of monogenic obesity ...
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(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2007)This tutorial describes different methods and results of genetic studies of primary headaches. A positive family history is imprecise, because it does not specify the number of affected, family size or relation to the ...
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(Doctoral thesis / Doktoravhandling, 2015)Parkinson's disease is a common neurological disorder where the prevalence increases with age. The diagnosis is based on motor symptoms, namely slowness of movements, rigidity, tremor and balance problems, yet patients ...
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(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2007)The objective of this study was to investigate the importance of genetics in tension-type headache. A MEDLINE search from 1966 to December 2006 was performed for “tension-type headache and prevalence” and “tension-type ...