Publications (original articles or review articles) published in 2015 from OUS - Department of Medical Genetics
67 publications found
Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs
J Psychopharmacol, 29 (8), 884-91
DOI 10.1177/0269881115584469, PubMed 25944848
Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance
Am J Med Genet A, 167A (9), 2052-64
DOI 10.1002/ajmg.a.37120, PubMed 26097203
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
Hum Mol Genet, 24 (20), 5845-54
DOI 10.1093/hmg/ddv305, PubMed 26220973
DESIGN OF A REFERENCE HANDLING SYSTEM FOR CLINICAL DNA SEQUENCING ANALYSIS
PROCEEDINGS OF THE INTERNATIONAL CONFERENCES ON E-HEALTH 2015 E-COMMERCE AND DIGITAL MARKETING 2015 AND INFORMATION SYSTEMS POST-IMPLEMENTATION AND CHANGE MANAGEMENT 2015, 79-87
Results of comprehensive diagnostic work-up in 'idiopathic' dilated cardiomyopathy
Open Heart, 2 (1), e000271
DOI 10.1136/openhrt-2015-000271, PubMed 26468400
Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay
Am J Med Genet A, 167A (8), 1890-6
DOI 10.1002/ajmg.a.37079, PubMed 25846056
Large-scale genomics unveil polygenic architecture of human cortical surface area
Nat Commun, 6, 7549
DOI 10.1038/ncomms8549, PubMed 26189703
The association of PTPN22 rs2476601 with juvenile idiopathic arthritis is specific to females
Genes Immun, 16 (7), 495-8
DOI 10.1038/gene.2015.32, PubMed 26291515
Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1
Nat Commun, 6, 7146
DOI 10.1038/ncomms8146, PubMed 25994336
Genetic variations in the annexin A5 gene and the risk of pregnancy-related venous thrombosis
J Thromb Haemost, 13 (3), 409-13
DOI 10.1111/jth.12817, PubMed 25495894
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1
J Clin Immunol, 36 (1), 73-84
DOI 10.1007/s10875-015-0214-9, PubMed 26604104
Polygenic Overlap Between C-Reactive Protein, Plasma Lipids, and Alzheimer Disease
Circulation, 131 (23), 2061-2069
DOI 10.1161/CIRCULATIONAHA.115.015489, PubMed 25862742
Mixtures with relatives and linked markers
Int J Legal Med, 130 (3), 621-34
DOI 10.1007/s00414-015-1288-x, PubMed 26614310
Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2
Eur J Med Genet, 58 (11), 624-8
DOI 10.1016/j.ejmg.2015.10.005, PubMed 26475232
MicroRNAs enrichment in GWAS of complex human phenotypes
BMC Genomics, 16 (1), 304
DOI 10.1186/s12864-015-1513-5, PubMed 25884492
Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation
Fertil Steril, 105 (3), 781-785
DOI 10.1016/j.fertnstert.2015.11.034, PubMed 26698676
Investigation of the genotype III to genotype I shift in Japanese encephalitis virus and the impact on human cases
Virol Sin, 30 (4), 277-89
DOI 10.1007/s12250-015-3621-4, PubMed 26311492
Association between Genetic Variation in the Oxytocin Receptor Gene and Emotional Withdrawal, but not between Oxytocin Pathway Genes and Diagnosis in Psychotic Disorders
Front Hum Neurosci, 9, 9
DOI 10.3389/fnhum.2015.00009, PubMed 25667571
30-Day Survival Probabilities as a Quality Indicator for Norwegian Hospitals: Data Management and Analysis
PLoS One, 10 (9), e0136547
DOI 10.1371/journal.pone.0136547, PubMed 26352600
Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1
Clin Genet, 89 (2), 182-6
DOI 10.1111/cge.12612, PubMed 25970827
Ten modifiers of BRCA1 penetrance validated in a Norwegian series
Hered Cancer Clin Pract, 13 (1), 14
DOI 10.1186/s13053-015-0035-0, PubMed 26052370
Common genetic variants influence human subcortical brain structures
Nature, 520 (7546), 224-9
DOI 10.1038/nature14101, PubMed 25607358
Identification of rare high-risk copy number variants affecting the dopamine transporter gene in mental disorders
Nord J Psychiatry, 70 (4), 276-9
DOI 10.3109/08039488.2015.1095944, PubMed 26559242
Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody
Circ Cardiovasc Genet, 8 (6), 823-31
DOI 10.1161/CIRCGENETICS.115.001129, PubMed 26374825
A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation
Eur J Med Genet, 58 (8), 387-91
DOI 10.1016/j.ejmg.2015.06.003, PubMed 26116559
Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report
Clin Case Rep, 4 (2), 177-81
DOI 10.1002/ccr3.434, PubMed 26862418
The Influence of the Autoimmunity-Associated Ancestral HLA Haplotype AH8.1 on the Human Gut Microbiota: A Cross-Sectional Study
PLoS One, 10 (7), e0133804
DOI 10.1371/journal.pone.0133804, PubMed 26207384
Genome-wide autozygosity is associated with lower general cognitive ability
Mol Psychiatry, 21 (6), 837-43
DOI 10.1038/mp.2015.120, PubMed 26390830
A Loss-of-Function Variant in a Minor Isoform of ANK3 Protects Against Bipolar Disorder and Schizophrenia
Biol Psychiatry, 80 (4), 323-330
DOI 10.1016/j.biopsych.2015.09.021, PubMed 26682468
Microarray Analysis of Copy Number Variants on the Human Y Chromosome Reveals Novel and Frequent Duplications Overrepresented in Specific Haplogroups
PLoS One, 10 (8), e0137223
DOI 10.1371/journal.pone.0137223, PubMed 26322892
A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1
PLoS One, 10 (7), e0131637
DOI 10.1371/journal.pone.0131637, PubMed 26154504
New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis
Int J Epidemiol, 44 (5), 1706-21
DOI 10.1093/ije/dyv136, PubMed 26286434
Alternative splicing of placental lactogen (CSH2) in somatotroph pituitary adenomas
Neuro Endocrinol Lett, 36 (2), 136-42
PubMed 26071582
High-throughput T-cell receptor sequencing across chronic liver diseases reveals distinct disease-associated repertoires
Hepatology, 63 (5), 1608-19
DOI 10.1002/hep.28116, PubMed 26257205
Combined inhibition of the cell cycle related proteins Wee1 and Chk1/2 induces synergistic anti-cancer effect in melanoma
BMC Cancer, 15, 462
DOI 10.1186/s12885-015-1474-8, PubMed 26054341
Nontesticular cancers in relatives of testicular germ cell tumor (TGCT) patients from multiple-case TGCT families
Cancer Med, 4 (7), 1069-78
DOI 10.1002/cam4.450, PubMed 25882629
Combinations of Genetic Data Present in Bipolar Patients, but Absent in Control Persons
PLoS One, 10 (11), e0143432
DOI 10.1371/journal.pone.0143432, PubMed 26587987
Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database
Gut, 66 (3), 464-472
DOI 10.1136/gutjnl-2015-309675, PubMed 26657901
Tumour characteristics and survival in familial breast cancer prospectively diagnosed by annual mammography
Breast Cancer Res Treat, 152 (1), 87-94
DOI 10.1007/s10549-015-3448-6, PubMed 26037256
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways
Nat Neurosci, 18 (2), 199-209
DOI 10.1038/nn.3922, PubMed 25599223
Dietary aspects related to health and obesity in Williams syndrome, Down syndrome, and Prader-Willi syndrome
Food Nutr Res, 59, 25487
DOI 10.3402/fnr.v59.25487, PubMed 25653019
Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases
Immunity, 42 (6), 1185-96
DOI 10.1016/j.immuni.2015.04.021, PubMed 26084028
Genome-wide blood DNA methylation alterations at regulatory elements and heterochromatic regions in monozygotic twins discordant for obesity and liver fat
Clin Epigenetics, 7 (1), 39
DOI 10.1186/s13148-015-0073-5, PubMed 25866590
Catechol-O-methyltransferase (COMT) gene polymorphisms are associated with baseline disability but not long-term treatment outcome in patients with chronic low back pain
Eur Spine J, 24 (11), 2425-31
DOI 10.1007/s00586-015-3866-5, PubMed 25772090
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B
Am J Med Genet A, 167A (3), 657-63
DOI 10.1002/ajmg.a.36944, PubMed 25691420
DNA methylation and gene expression patterns in adipose tissue differ significantly within young adult monozygotic BMI-discordant twin pairs
Int J Obes (Lond), 40 (4), 654-61
DOI 10.1038/ijo.2015.221, PubMed 26499446
Individualization of treatments with drugs metabolized by CES1: combining genetics and metabolomics
Pharmacogenomics, 16 (6), 649-65
DOI 10.2217/pgs.15.7, PubMed 25896426
Methylation of bone SOST, its mRNA, and serum sclerostin levels correlate strongly with fracture risk in postmenopausal women
J Bone Miner Res, 30 (2), 249-56
DOI 10.1002/jbmr.2342, PubMed 25155887
GREM1 and POLE variants in hereditary colorectal cancer syndromes
Genes Chromosomes Cancer, 55 (1), 95-106
DOI 10.1002/gcc.22314, PubMed 26493165
microRNA Biomarker Discovery and High-Throughput DNA Sequencing Are Possible Using Long-term Archived Serum Samples
Cancer Epidemiol Biomarkers Prev, 24 (9), 1381-7
DOI 10.1158/1055-9965.EPI-15-0289, PubMed 26108462
Risk factors for endometrial cancer among women with a BRCA1 or BRCA2 mutation: a case control study
Fam Cancer, 14 (3), 383-91
DOI 10.1007/s10689-015-9798-8, PubMed 25838159
Genome-Wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A and Identification of ZBTB10 and Three Distinct HLA Associations
Mol Med, 21 (1), 769-781
DOI 10.2119/molmed.2015.00232, PubMed 26562150
Genetic Markers of Human Evolution Are Enriched in Schizophrenia
Biol Psychiatry, 80 (4), 284-292
DOI 10.1016/j.biopsych.2015.10.009, PubMed 26681495
Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease
Nat Genet, 47 (5), 445-7
DOI 10.1038/ng.3246, PubMed 25807283
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
Am J Hum Genet, 98 (1), 202-9
DOI 10.1016/j.ajhg.2015.11.004, PubMed 26708751
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers
Genet Med, 18 (4), 405-9
DOI 10.1038/gim.2015.83, PubMed 26110232
Altered Brain Activation during Emotional Face Processing in Relation to Both Diagnosis and Polygenic Risk of Bipolar Disorder
PLoS One, 10 (7), e0134202
DOI 10.1371/journal.pone.0134202, PubMed 26222050
Syndecan-3 and TFPI colocalize on the surface of endothelial-, smooth muscle-, and cancer cells
PLoS One, 10 (1), e0117404
DOI 10.1371/journal.pone.0117404, PubMed 25617766
Tumor expression, plasma levels and genetic polymorphisms of the coagulation inhibitor TFPI are associated with clinicopathological parameters and survival in breast cancer, in contrast to the coagulation initiator TF
Breast Cancer Res, 17 (1), 44
DOI 10.1186/s13058-015-0548-5, PubMed 25882602
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome
BMC Med Genet, 16, 113
DOI 10.1186/s12881-015-0260-4, PubMed 26684006
Independent evidence for an association between general cognitive ability and a genetic locus for educational attainment
Am J Med Genet B Neuropsychiatr Genet, 168B (5), 363-73
DOI 10.1002/ajmg.b.32319, PubMed 25951819
Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis
Oncotarget, 6 (40), 42892-904
DOI 10.18632/oncotarget.5740, PubMed 26503472
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM
Eur J Hum Genet, 23 (12), 1652-6
DOI 10.1038/ejhg.2015.30, PubMed 25735484
Friedreich ataxia in Norway - an epidemiological, molecular and clinical study
Orphanet J Rare Dis, 10, 108
DOI 10.1186/s13023-015-0328-4, PubMed 26338206
The Concordance and Heritability of Type 2 Diabetes in 34,166 Twin Pairs From International Twin Registers: The Discordant Twin (DISCOTWIN) Consortium
Twin Res Hum Genet, 18 (6), 762-71
DOI 10.1017/thg.2015.83, PubMed 26678054
CTLA-4 as a genetic determinant in autoimmune Addison's disease
Genes Immun, 16 (6), 430-6
DOI 10.1038/gene.2015.27, PubMed 26204230
Genome-wide analysis of attention deficit hyperactivity disorder in Norway
PLoS One, 10 (4), e0122501
DOI 10.1371/journal.pone.0122501, PubMed 25875332