Publications (original articles or review articles) published in 2014 from OUS - Department of Medical Genetics
86 publications found
Oestrogen induced downregulation of TFPI expression is mediated by ERα
Thromb Res, 134 (1), 138-43
DOI 10.1016/j.thromres.2014.04.004, PubMed 24785473
Coeliac disease-associated polymorphisms influence thymic gene expression
Genes Immun, 15 (6), 355-60
DOI 10.1038/gene.2014.26, PubMed 24871462
Genetic pleiotropy between multiple sclerosis and schizophrenia but not bipolar disorder: differential involvement of immune-related gene loci
Mol Psychiatry, 20 (2), 207-14
DOI 10.1038/mp.2013.195, PubMed 24468824
Shared common variants in prostate cancer and blood lipids
Int J Epidemiol, 43 (4), 1205-14
DOI 10.1093/ije/dyu090, PubMed 24786909
Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease
Heart, 100 (22), 1793-8
DOI 10.1136/heartjnl-2014-305616, PubMed 25031264
Global gene expression analysis reveals a link between NDRG1 and vesicle transport
PLoS One, 9 (1), e87268
DOI 10.1371/journal.pone.0087268, PubMed 24498060
VAV1 and BAFF, via NFκB pathway, are genetic risk factors for myasthenia gravis
Ann Clin Transl Neurol, 1 (5), 329-39
DOI 10.1002/acn3.51, PubMed 25356403
Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study
Eur Urol, 66 (3), 489-99
DOI 10.1016/j.eururo.2014.01.003, PubMed 24484606
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes
Am J Med Genet A, 164A (5), 1277-83
DOI 10.1002/ajmg.a.36439, PubMed 24664804
Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray
Clin Exp Immunol, 178 (3), 459-69
DOI 10.1111/cei.12421, PubMed 25046553
A de novo 2.3 Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl
Gene, 539 (1), 168-72
DOI 10.1016/j.gene.2014.01.060, PubMed 24508274
Type 1 hyperlipoproteinemia due to a novel deletion of exons 3 and 4 in the GPIHBP1 gene
Atherosclerosis, 234 (1), 30-3
DOI 10.1016/j.atherosclerosis.2014.02.005, PubMed 24589565
CYP21A2 polymorphisms in patients with autoimmune Addison's disease, and linkage disequilibrium to HLA risk alleles
Eur J Endocrinol, 171 (6), 743-50
DOI 10.1530/EJE-14-0432, PubMed 25249698
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2
BMC Med Genet, 15, 31
DOI 10.1186/1471-2350-15-31, PubMed 24606995
Association between altered brain morphology and elevated peripheral endothelial markers--implications for psychotic disorders
Schizophr Res, 161 (2-3), 222-8
DOI 10.1016/j.schres.2014.11.006, PubMed 25433965
Ocular findings in 87 adults with Ghent-1 verified Marfan syndrome
Acta Ophthalmol, 93 (1), 46-53
DOI 10.1111/aos.12448, PubMed 24853997
Mixtures with relatives: a pedigree perspective
Forensic Sci Int Genet, 10, 49-54
DOI 10.1016/j.fsigen.2014.01.007, PubMed 24572837
Construction of a filamentous phage display peptide library
Methods Mol Biol, 1088, 19-33
DOI 10.1007/978-1-62703-673-3_2, PubMed 24146394
Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms
Eur J Med Genet, 57 (9), 513-9
DOI 10.1016/j.ejmg.2014.05.008, PubMed 24911659
Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation
J Clin Oncol, 32 (15), 1547-53
DOI 10.1200/JCO.2013.53.2820, PubMed 24567435
The HLA profiles of mixed connective tissue disease differ distinctly from the profiles of clinically related connective tissue diseases
Rheumatology (Oxford), 54 (3), 528-35
DOI 10.1093/rheumatology/keu310, PubMed 25187641
Understanding the experience of myotonic dystrophy. Mixed method study
J Genet Couns, 24 (1), 169-78
DOI 10.1007/s10897-014-9752-1, PubMed 25123360
Mammography screening and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a prospective study
Breast Cancer Res Treat, 147 (1), 113-8
DOI 10.1007/s10549-014-3063-y, PubMed 25082516
The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry
Hered Cancer Clin Pract, 12 (1), 12
DOI 10.1186/1897-4287-12-12, PubMed 24790682
Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers
Breast Cancer Res Treat, 146 (2), 421-7
DOI 10.1007/s10549-014-3026-3, PubMed 24951267
No association between multiple sclerosis and periodontitis after adjusting for smoking habits
Eur J Neurol, 22 (3), 588-90
DOI 10.1111/ene.12520, PubMed 25041906
Environmental exposures and the risk of multiple sclerosis investigated in a Norwegian case-control study
BMC Neurol, 14, 196
DOI 10.1186/s12883-014-0196-x, PubMed 25274070
Oligoclonal band phenotypes in MS differ in their HLA class II association, while specific KIR ligands at HLA class I show association to MS in general
J Neuroimmunol, 274 (1-2), 174-9
DOI 10.1016/j.jneuroim.2014.06.024, PubMed 25037176
An attempt to identify single nucleotide polymorphisms contributing to possible relationships between personality traits and oxytocin-related genes
Neuropsychobiology, 69 (1), 25-30
DOI 10.1159/000356965, PubMed 24458227
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity
Orphanet J Rare Dis, 9, 146
DOI 10.1186/s13023-014-0146-0, PubMed 25258038
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability
Am J Med Genet A, 164A (7), 1622-6
DOI 10.1002/ajmg.a.36498, PubMed 24678003
Polygenic risk for schizophrenia associated with working memory-related prefrontal brain activation in patients with schizophrenia and healthy controls
Schizophr Bull, 41 (3), 736-43
DOI 10.1093/schbul/sbu152, PubMed 25392519
Factors influencing ovulation and the risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers
Int J Cancer, 137 (5), 1136-46
DOI 10.1002/ijc.29386, PubMed 25482078
Timing of oral contraceptive use and the risk of breast cancer in BRCA1 mutation carriers
Breast Cancer Res Treat, 143 (3), 579-86
DOI 10.1007/s10549-013-2823-4, PubMed 24458845
Detection of a low-grade enteroviral infection in the islets of langerhans of living patients newly diagnosed with type 1 diabetes
Diabetes, 64 (5), 1682-7
DOI 10.2337/db14-1370, PubMed 25422108
Affinity selection using filamentous phage display
Methods Mol Biol, 1088, 67-80
DOI 10.1007/978-1-62703-673-3_5, PubMed 24146397
Modified Atkins diet may reduce serum concentrations of antiepileptic drugs
Acta Neurol Scand, 131 (3), 187-90
DOI 10.1111/ane.12330, PubMed 25312999
Sorting an LDL receptor with bound PCSK9 to intracellular degradation
Atherosclerosis, 237 (1), 76-81
DOI 10.1016/j.atherosclerosis.2014.08.038, PubMed 25222343
Aicardi syndrome: an epidemiologic and clinical study in Norway
Pediatr Neurol, 52 (2), 182-6.e3
DOI 10.1016/j.pediatrneurol.2014.10.022, PubMed 25443581
CHD2 mutations in Lennox-Gastaut syndrome
Epilepsy Behav, 33, 18-21
DOI 10.1016/j.yebeh.2014.02.005, PubMed 24614520
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients
J Clin Endocrinol Metab, 99 (10), E2138-43
DOI 10.1210/jc.2014-2110, PubMed 25077900
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
Blood, 125 (4), 591-9
DOI 10.1182/blood-2014-09-602763, PubMed 25359994
A dominant STIM1 mutation causes Stormorken syndrome
Hum Mutat, 35 (5), 556-64
DOI 10.1002/humu.22544, PubMed 24619930
Association of autoimmune Addison's disease with alleles of STAT4 and GATA3 in European cohorts
PLoS One, 9 (3), e88991
DOI 10.1371/journal.pone.0088991, PubMed 24614117
Genome-wide ancestry patterns in Rapanui suggest pre-European admixture with Native Americans
Curr Biol, 24 (21), 2518-25
DOI 10.1016/j.cub.2014.09.057, PubMed 25447991
Mortality among patients with familial hypercholesterolemia: a registry-based study in Norway, 1992-2010
J Am Heart Assoc, 3 (6), e001236
DOI 10.1161/JAHA.114.001236, PubMed 25468658
The clinical utility of genetic testing in breast cancer kindreds: a prospective study in families without a demonstrable BRCA mutation
Breast Cancer Res Treat, 144 (3), 607-14
DOI 10.1007/s10549-014-2902-1, PubMed 24619173
Small duct primary sclerosing cholangitis without inflammatory bowel disease is genetically different from large duct disease
Liver Int, 34 (10), 1488-95
DOI 10.1111/liv.12492, PubMed 24517468
Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome
Fam Cancer, 13 (1), 57-63
DOI 10.1007/s10689-013-9674-3, PubMed 23934601
Refinement of the MHC risk map in a scandinavian primary sclerosing cholangitis population
PLoS One, 9 (12), e114486
DOI 10.1371/journal.pone.0114486, PubMed 25521205
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations
Am J Hum Genet, 94 (6), 915-23
DOI 10.1016/j.ajhg.2014.05.005, PubMed 24906020
Occurrence of GLUT1 deficiency syndrome in patients treated with ketogenic diet
Epilepsy Behav, 32, 76-8
DOI 10.1016/j.yebeh.2014.01.003, PubMed 24508593
Does ketogenic diet improve cognitive function in patients with GLUT1-DS? A 6- to 17-month follow-up study
Epilepsy Behav, 39, 111-5
DOI 10.1016/j.yebeh.2014.08.015, PubMed 25240122
HLA associated type 1 diabetes risk in children of Pakistani migrants to Norway
Med Hypotheses, 83 (6), 664-7
DOI 10.1016/j.mehy.2014.09.013, PubMed 25441839
Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b
Eur J Hum Genet, 23 (4), 494-9
DOI 10.1038/ejhg.2014.133, PubMed 25005734
Identification of copy number variants from exome sequence data
BMC Genomics, 15 (1), 661
DOI 10.1186/1471-2164-15-661, PubMed 25102989
A variant within the AQP1 3'-untranslated region is associated with running performance, but not weight changes, during an Ironman Triathlon
J Sports Sci, 33 (13), 1342-8
DOI 10.1080/02640414.2014.989535, PubMed 25495276
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome
Hum Mutat, 35 (9), 1092-100
DOI 10.1002/humu.22603, PubMed 24924640
Biological insights from 108 schizophrenia-associated genetic loci
Nature, 511 (7510), 421-7
DOI 10.1038/nature13595, PubMed 25056061
Pathogens in Urine from a Female Patient with Overactive Bladder Syndrome Detected by Culture-independent High Throughput Sequencing: A Case Report
Open Microbiol J, 8, 148-53
DOI 10.2174/1874285801408010148, PubMed 25685246
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis
Neurology, 84 (2), 141-7
DOI 10.1212/WNL.0000000000001129, PubMed 25480913
Human rabies surveillance and control in China, 2005-2012
BMC Infect Dis, 14, 212
DOI 10.1186/1471-2334-14-212, PubMed 24742224
Endogenous RNAs modulate microRNA sorting to exosomes and transfer to acceptor cells
Cell Rep, 8 (5), 1432-46
DOI 10.1016/j.celrep.2014.07.035, PubMed 25159140
Palindromic sequence artifacts generated during next generation sequencing library preparation from historic and ancient DNA
PLoS One, 9 (3), e89676
DOI 10.1371/journal.pone.0089676, PubMed 24608104
RNA-sequencing analysis of HepG2 cells treated with atorvastatin
PLoS One, 9 (8), e105836
DOI 10.1371/journal.pone.0105836, PubMed 25153832
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
Am J Hum Genet, 95 (1), 96-107
DOI 10.1016/j.ajhg.2014.05.007, PubMed 24931394
Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy
J Clin Immunol, 34 (7), 871-90
DOI 10.1007/s10875-014-0074-8, PubMed 25073507
Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reticulum
FEBS Open Bio, 4, 321-7
DOI 10.1016/j.fob.2014.03.007, PubMed 24918045
PCSK9 acts as a chaperone for the LDL receptor in the endoplasmic reticulum
Biochem J, 457 (1), 99-105
DOI 10.1042/BJ20130930, PubMed 24144304
National registries of rare diseases in Europe: an overview of the current situation and experiences
Public Health Genomics, 18 (1), 20-5
DOI 10.1159/000365897, PubMed 25228300
Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk
J Clin Oncol, 33 (4), 319-25
DOI 10.1200/JCO.2014.57.8088, PubMed 25512458
Polygenic risk score and the psychosis continuum model
Acta Psychiatr Scand, 130 (4), 311-7
DOI 10.1111/acps.12307, PubMed 24961959
The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data
Brain Imaging Behav, 8 (2), 153-82
DOI 10.1007/s11682-013-9269-5, PubMed 24399358
Increased coagulation activity and genetic polymorphisms in the F5, F10 and EPCR genes are associated with breast cancer: a case-control study
BMC Cancer, 14, 845
DOI 10.1186/1471-2407-14-845, PubMed 25407022
Globular adiponectin and its downstream target genes are up-regulated locally in human colorectal tumors: ex vivo and in vitro studies
Metabolism, 63 (5), 672-81
DOI 10.1016/j.metabol.2014.02.001, PubMed 24636346
Resolution of HLA-B*44:02:01G, -DRB1*14:01:01G and -DQB1*03:01:01G reveals a high allelic variability among 12 European populations
Tissue Antigens, 84 (5), 459-64
DOI 10.1111/tan.12422, PubMed 25209151
Man with macrocephaly, learning disability and multiple basal cell carcinomas
Tidsskr Nor Laegeforen, 134 (11), 1151-4
DOI 10.4045/tidsskr.13.0894, PubMed 24939783
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome
Hum Genet, 134 (2), 181-90
DOI 10.1007/s00439-014-1509-2, PubMed 25413698
Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions
PLoS One, 9 (1), e86340
DOI 10.1371/journal.pone.0086340, PubMed 24466038
Placental miR-1301 is dysregulated in early-onset preeclampsia and inversely correlated with maternal circulating leptin
Placenta, 35 (9), 709-17
DOI 10.1016/j.placenta.2014.07.002, PubMed 25064070
ANK3 gene expression in bipolar disorder and schizophrenia
Br J Psychiatry, 205 (3), 244-5
DOI 10.1192/bjp.bp.114.145433, PubMed 24809399
Use of high throughput sequencing and light microscopy show contrasting results in a study of phytoplankton occurrence in a freshwater environment
PLoS One, 9 (8), e106510
DOI 10.1371/journal.pone.0106510, PubMed 25171164
Comparison of complete genome sequences of dog rabies viruses isolated from China and Mexico reveals key amino acid changes that may be associated with virus replication and virulence
Arch Virol, 159 (7), 1593-601
DOI 10.1007/s00705-013-1966-2, PubMed 24395077
Investigation of the genetic interaction between BDNF and DRD3 genes in suicidical behaviour in psychiatric disorders
World J Biol Psychiatry, 16 (3), 171-9
DOI 10.3109/15622975.2014.953011, PubMed 25264289
Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies
Mol Syndromol, 5 (2), 65-75
DOI 10.1159/000357962, PubMed 24715853
Interplay between childhood trauma and BDNF val66met variants on blood BDNF mRNA levels and on hippocampus subfields volumes in schizophrenia spectrum and bipolar disorders
J Psychiatr Res, 59, 14-21
DOI 10.1016/j.jpsychires.2014.08.011, PubMed 25246365