Publications (original articles or review articles) published in 2016 from OUS - Department of Medical Genetics
87 publications found
Novel genetic loci underlying human intracranial volume identified through genome-wide association
Nat Neurosci, 19 (12), 1569-1582
DOI 10.1038/nn.4398, PubMed 27694991
The role of microRNA-27a/b and microRNA-494 in estrogen-mediated downregulation of tissue factor pathway inhibitor α
J Thromb Haemost, 14 (6), 1226-37
DOI 10.1111/jth.13321, PubMed 26999003
Oestrogens Downregulate Tissue Factor Pathway Inhibitor through Oestrogen Response Elements in the 5'-Flanking Region
PLoS One, 11 (3), e0152114
DOI 10.1371/journal.pone.0152114, PubMed 26999742
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome
PLoS One, 11 (4), e0153757
DOI 10.1371/journal.pone.0153757, PubMed 27124303
A genetic association study of CSMD1 and CSMD2 with cognitive function
Brain Behav Immun, 61, 209-216
DOI 10.1016/j.bbi.2016.11.026, PubMed 27890662
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13
Eur J Med Genet, 59 (6-7), 342-6
DOI 10.1016/j.ejmg.2016.05.005, PubMed 27182039
Altered carbon turnover processes and microbiomes in soils under long-term extremely high CO2 exposure
Nat Microbiol, 1, 15025
DOI 10.1038/nmicrobiol.2015.25, PubMed 27571979
AIDING GENETIC ANALYSTS: DESIGN OF A LITERATURE EVALUATION SYSTEM
IADIS-Int. J. Comput. Sci. Inf. Syst., 11 (1), 1-16
A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1
J Clin Endocrinol Metab, 101 (8), 2975-83
DOI 10.1210/jc.2016-1821, PubMed 27253668
A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis
Am J Hum Genet, 100 (1), 64-74
DOI 10.1016/j.ajhg.2016.11.013, PubMed 28041642
Effect of hypoxia on tissue factor pathway inhibitor expression in breast cancer
J Thromb Haemost, 14 (2), 387-96
DOI 10.1111/jth.13206, PubMed 26598923
Expanding the genotypic spectrum of Perrault syndrome
Clin Genet, 91 (2), 302-312
DOI 10.1111/cge.12776, PubMed 26970254
Identification of a Natural Killer Cell Receptor Allele That Prolongs Survival of Cytomegalovirus-Positive Glioblastoma Patients
Cancer Res, 76 (18), 5326-36
DOI 10.1158/0008-5472.CAN-16-1162, PubMed 27406829
Intensive breast screening in BRCA2 mutation carriers is associated with reduced breast cancer specific and all cause mortality
Hered Cancer Clin Pract, 14, 8
DOI 10.1186/s13053-016-0048-3, PubMed 27087880
Modeling psychiatric disorders: from genomic findings to cellular phenotypes
Mol Psychiatry, 21 (9), 1167-79
DOI 10.1038/mp.2016.89, PubMed 27240529
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
Hum Mutat, 37 (4), 359-63
DOI 10.1002/humu.22960, PubMed 26820108
Genetic risk variants for autoimmune diseases that influence gene expression in thymus
Hum Mol Genet, 25 (14), 3117-3124
DOI 10.1093/hmg/ddw152, PubMed 27199374
Autoimmune risk variants in ERAP2 are associated with gene-expression levels in thymus
Genes Immun, 17 (7), 406-411
DOI 10.1038/gene.2016.39, PubMed 27829666
Intra-individual changes in DNA methylation not mediated by cell-type composition are correlated with aging during childhood
Clin Epigenetics, 8, 110
DOI 10.1186/s13148-016-0277-3, PubMed 27785156
Cell type specific DNA methylation in cord blood: A 450K-reference data set and cell count-based validation of estimated cell type composition
Epigenetics, 11 (9), 690-698
DOI 10.1080/15592294.2016.1214782, PubMed 27494297
Fibromatosis in vertical rectus abdominis myocutaneous flap imitating tumor recurrence after surgery for locally advanced rectal cancer: case report
World J Surg Oncol, 14, 63
DOI 10.1186/s12957-016-0818-4, PubMed 26940557
A sequence variant associating with educational attainment also affects childhood cognition
Sci Rep, 6, 36189
DOI 10.1038/srep36189, PubMed 27811963
Migraine and frequent tension-type headache are not associated with multiple sclerosis in a Norwegian case-control study
Mult Scler J Exp Transl Clin, 2, 2055217316682976
DOI 10.1177/2055217316682976, PubMed 28607748
Contribution of oxytocin receptor polymorphisms to amygdala activation in schizophrenia spectrum disorders
BJPsych Open, 2 (6), 353-358
DOI 10.1192/bjpo.bp.116.003376, PubMed 27847593
Gut and liver T-cells of common clonal origin in primary sclerosing cholangitis-inflammatory bowel disease
J Hepatol, 66 (1), 116-122
DOI 10.1016/j.jhep.2016.09.002, PubMed 27647428
Parents' attitudes toward genetic research in autism spectrum disorder
Psychiatr Genet, 26 (2), 74-80
DOI 10.1097/YPG.0000000000000121, PubMed 26867185
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features
Am J Hum Genet, 99 (4), 912-916
DOI 10.1016/j.ajhg.2016.07.019, PubMed 27616480
A Cross-Sectional Study of the Prevalence of Gastrointestinal Symptoms and Pathology in Patients With Common Variable Immunodeficiency
Am J Gastroenterol, 111 (10), 1467-1475
DOI 10.1038/ajg.2016.329, PubMed 27527747
Task modulations and clinical manifestations in the brain functional connectome in 1615 fMRI datasets
Neuroimage, 147, 243-252
DOI 10.1016/j.neuroimage.2016.11.073, PubMed 27916665
A systematic comparison of copy number alterations in four types of female cancer
BMC Cancer, 16 (1), 913
DOI 10.1186/s12885-016-2899-4, PubMed 27876019
Hormone replacement therapy after menopause and risk of breast cancer in BRCA1 mutation carriers: a case-control study
Breast Cancer Res Treat, 155 (2), 365-73
DOI 10.1007/s10549-016-3685-3, PubMed 26780555
Bilateral Oophorectomy and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
J Natl Cancer Inst, 109 (1)
DOI 10.1093/jnci/djw177, PubMed 27601060
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS
N Engl J Med, 374 (11), 1032-1043
DOI 10.1056/NEJMoa1512234, PubMed 26981933
Effect of energy restriction and physical exercise intervention on phenotypic flexibility as examined by transcriptomics analyses of mRNA from adipose tissue and whole body magnetic resonance imaging
Physiol Rep, 4 (21)
DOI 10.14814/phy2.13019, PubMed 27821717
Gene expression in term placentas is regulated more by spinal or epidural anesthesia than by late-onset preeclampsia or gestational diabetes mellitus
Sci Rep, 6, 29715
DOI 10.1038/srep29715, PubMed 27405415
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
Neurology, 86 (23), 2171-8
DOI 10.1212/WNL.0000000000002740, PubMed 27164704
Variable phenotypic expression of nonsense mutation p.Thr5* in the APOE gene
Mol Genet Metab Rep, 9, 67-70
DOI 10.1016/j.ymgmr.2016.10.007, PubMed 27830118
The Atlantic salmon genome provides insights into rediploidization
Nature, 533 (7602), 200-5
DOI 10.1038/nature17164, PubMed 27088604
Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome
Mol Syndromol, 7 (4), 234-238
DOI 10.1159/000448367, PubMed 27781033
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
Nat Genet, 49 (1), 27-35
DOI 10.1038/ng.3725, PubMed 27869829
Small-Molecule-Directed Hepatocyte-Like Cell Differentiation of Human Pluripotent Stem Cells
Curr Protoc Stem Cell Biol, 38, 1G.6.1-1G.6.18
DOI 10.1002/cpsc.13, PubMed 27532814
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
Am J Hum Genet, 98 (5), 981-992
DOI 10.1016/j.ajhg.2016.03.018, PubMed 27108798
Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women
JAMA Psychiatry, 73 (5), 497-505
DOI 10.1001/jamapsychiatry.2016.0129, PubMed 27007234
Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport
Brain, 139 (Pt 12), 3109-3120
DOI 10.1093/brain/aww244, PubMed 27742667
Cardiovascular disease mortality in patients with genetically verified familial hypercholesterolemia in Norway during 1992-2013
Eur J Prev Cardiol, 24 (2), 137-144
DOI 10.1177/2047487316676135, PubMed 27794106
Cardiovascular disease in patients with genotyped familial hypercholesterolemia in Norway during 1994-2009, a registry study
Eur J Prev Cardiol, 23 (18), 1962-1969
DOI 10.1177/2047487316666371, PubMed 27558979
Functional Effects of Schizophrenia-Linked Genetic Variants on Intrinsic Single-Neuron Excitability: A Modeling Study
Biol Psychiatry Cogn Neurosci Neuroimaging, 1 (1), 49-59
DOI 10.1016/j.bpsc.2015.09.002, PubMed 26949748
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database
Gut, 66 (9), 1657-1664
DOI 10.1136/gutjnl-2016-311403, PubMed 27261338
Effects of Anthocyanins on CAG Repeat Instability and Behaviour in Huntington's Disease R6/1 Mice
PLoS Curr, 8
DOI 10.1371/currents.hd.58d04209ab6d5de0844db7ef5628ff67, PubMed 27540492
Inflammatory evidence for the psychosis continuum model
Psychoneuroendocrinology, 67, 189-97
DOI 10.1016/j.psyneuen.2016.02.011, PubMed 26923849
The prevalence of metabolic risk factors of atherosclerotic cardiovascular disease in Williams syndrome, Prader-Willi syndrome, and Down syndrome
J. Intellect. Dev. Dis., 41 (3), 187-196
DOI 10.3109/13668250.2016.1167845
A Nationwide Study of Multiple Endocrine Neoplasia Type 2A in Norway: Predictive and Prognostic Factors for the Clinical Course of Medullary Thyroid Carcinoma
Thyroid, 26 (9), 1225-38
DOI 10.1089/thy.2015.0673, PubMed 27400880
Role of ALKBH1 in the Core Transcriptional Network of Embryonic Stem Cells
Cell Physiol Biochem, 38 (1), 173-84
DOI 10.1159/000438619, PubMed 26765775
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
Neuromuscul Disord, 26 (9), 570-5
DOI 10.1016/j.nmd.2016.06.457, PubMed 27450922
Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genes (Basel), 7 (8)
DOI 10.3390/genes7080041, PubMed 27472364
Conservation of Distinct Genetically-Mediated Human Cortical Pattern
PLoS Genet, 12 (7), e1006143
DOI 10.1371/journal.pgen.1006143, PubMed 27459196
Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia
J Clin Lipidol, 10 (4), 816-823
DOI 10.1016/j.jacl.2016.02.015, PubMed 27578112
Two male sibs with severe micrognathia and a missense variant in MED12
Eur J Med Genet, 59 (8), 367-72
DOI 10.1016/j.ejmg.2016.06.001, PubMed 27286923
Performance Improvement in 503A Compounding Pharmacies: A PLAN FOR ASSESSMENT, IMPLEMENTATION, AND SUSTAINED SUCCESS
Int J Pharm Compd, 20 (1), 29-36
PubMed 27125054
Identification of a founder BRCA1 mutation in the Moroccan population
Clin Genet, 90 (4), 361-5
DOI 10.1111/cge.12747, PubMed 26864382
A founder mutation p.H701P identified as a major cause of SPG7 in Norway
Eur J Neurol, 23 (4), 763-71
DOI 10.1111/ene.12937, PubMed 26756429
cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data
BMC Genomics, 17, 51
DOI 10.1186/s12864-016-2374-2, PubMed 26764020
Transcriptomic changes in relation to early-life events in the gilthead sea bream (Sparus aurata)
BMC Genomics, 17, 506
DOI 10.1186/s12864-016-2874-0, PubMed 27461489
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype
Genes (Basel), 7 (12)
DOI 10.3390/genes7120108, PubMed 27916860
Gene expression analysis supports tumor threshold over 2.0 cm for T-category breast cancer
EURASIP J Bioinform Syst Biol, 2016 (1), 6
DOI 10.1186/s13637-015-0034-5, PubMed 26900390
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction
Mol Genet Genomic Med, 4 (6), 604-616
DOI 10.1002/mgg3.237, PubMed 27896283
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy
Neurology, 86 (10), 954-62
DOI 10.1212/WNL.0000000000002457, PubMed 26865513
EPAS1/HIF-2 alpha-mediated downregulation of tissue factor pathway inhibitor leads to a pro-thrombotic potential in endothelial cells
Biochim Biophys Acta, 1862 (4), 670-678
DOI 10.1016/j.bbadis.2016.01.017, PubMed 26826018
A comparative study of ChIP-seq sequencing library preparation methods
BMC Genomics, 17 (1), 816
DOI 10.1186/s12864-016-3135-y, PubMed 27769162
Arv1 promotes cell division by recruiting IQGAP1 and myosin to the cleavage furrow
Cell Cycle, 15 (5), 628-43
DOI 10.1080/15384101.2016.1146834, PubMed 27104745
Differentially Methylated DNA Regions in Monozygotic Twin Pairs Discordant for Rheumatoid Arthritis: An Epigenome-Wide Study
Front Immunol, 7, 510
DOI 10.3389/fimmu.2016.00510, PubMed 27909437
Prevalence of juvenile myoclonic epilepsy in people <30 years of age-A population-based study in Norway
Epilepsia, 58 (1), 105-112
DOI 10.1111/epi.13613, PubMed 27861775
The Endogenous Hallucinogen and Trace Amine N,N-Dimethyltryptamine (DMT) Displays Potent Protective Effects against Hypoxia via Sigma-1 Receptor Activation in Human Primary iPSC-Derived Cortical Neurons and Microglia-Like Immune Cells
Front Neurosci, 10, 423
DOI 10.3389/fnins.2016.00423, PubMed 27683542
Changes of 5-hydroxymethylcytosine distribution during myeloid and lymphoid differentiation of CD34+ cells
Epigenetics Chromatin, 9, 21
DOI 10.1186/s13072-016-0070-8, PubMed 27252783
VRK2 gene expression in schizophrenia, bipolar disorder and healthy controls
Br J Psychiatry, 209 (2), 114-20
DOI 10.1192/bjp.bp.115.161950, PubMed 26941264
Polymorphisms of the coagulation system and risk of cancer
Thromb Res, 140 Suppl 1, S49-54
DOI 10.1016/S0049-3848(16)30098-6, PubMed 27067978
Determinants of acquired activated protein C resistance and D-dimer in breast cancer
Thromb Res, 145, 78-83
DOI 10.1016/j.thromres.2016.08.003, PubMed 27505249
BsRADseq: screening DNA methylation in natural populations of non-model species
Mol Ecol, 25 (8), 1697-713
DOI 10.1111/mec.13550, PubMed 26818626
The roadmap for estimation of cell-type-specific neuronal activity from non-invasive measurements
Philos Trans R Soc Lond B Biol Sci, 371 (1705)
DOI 10.1098/rstb.2015.0356, PubMed 27574309
Cell type specificity of neurovascular coupling in cerebral cortex
Elife, 5
DOI 10.7554/eLife.14315, PubMed 27244241
FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector
Bioinformatics, 32 (10), 1592-4
DOI 10.1093/bioinformatics/btw046, PubMed 26819469
Genetic overlap between multiple sclerosis and several cardiovascular disease risk factors
Mult Scler, 22 (14), 1783-1793
DOI 10.1177/1352458516635873, PubMed 26920376
Leveraging Genomic Annotations and Pleiotropic Enrichment for Improved Replication Rates in Schizophrenia GWAS
PLoS Genet, 12 (1), e1005803
DOI 10.1371/journal.pgen.1005803, PubMed 26808560
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
PLoS One, 11 (3), e0150555
DOI 10.1371/journal.pone.0150555, PubMed 26974433
Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations
Mol Genet Metab Rep, 9, 86-93
DOI 10.1016/j.ymgmr.2016.11.003, PubMed 27896130
The Association between Hair Cortisol and Self-Reported Symptoms of Depression in Pregnant Women
PLoS One, 11 (9), e0161804
DOI 10.1371/journal.pone.0161804, PubMed 27584584
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing
J Allergy Clin Immunol, 138 (4), 1142-1151.e2
DOI 10.1016/j.jaci.2016.05.035, PubMed 27484032