Publications (original articles or review articles) published in 2017 from OUS - Department of Medical Genetics
77 publications found
Estrogen induced expression of tissue factor pathway inhibitor-2 in MCF7 cells involves lysine-specific demethylase 1
Mol Cell Endocrinol, 443, 80-88
DOI 10.1016/j.mce.2017.01.016, PubMed 28088469
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay
Genet Med, 20 (7), 778-784
DOI 10.1038/gim.2017.113, PubMed 28837161
Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder
Mol Genet Metab, 121 (4), 325-328
DOI 10.1016/j.ymgme.2017.06.004, PubMed 28673549
Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia
Nutr Metab Cardiovasc Dis, 28 (2), 158-164
DOI 10.1016/j.numecd.2017.11.003, PubMed 29288010
Leveraging genome characteristics to improve gene discovery for putamen subcortical brain structure
Sci Rep, 7 (1), 15736
DOI 10.1038/s41598-017-15705-x, PubMed 29147026
Genetic factors influencing prostate cancer risk in Norwegian men
Prostate, 78 (3), 186-192
DOI 10.1002/pros.23453, PubMed 29181843
Infected T98G glioblastoma cells support human cytomegalovirus reactivation from latency
Virology, 510, 205-215
DOI 10.1016/j.virol.2017.07.023, PubMed 28750324
Prevalence of Renal Angiomyolipomas and Spontaneous Bleeding Related to Angiomyolipomas in Tuberous Sclerosis Complex Patients in France and Norway-a Questionnaire Study
Urology, 104, 70-76
DOI 10.1016/j.urology.2017.02.023, PubMed 28232177
A novel hypoxia response element regulates oxygen-related repression of tissue factor pathway inhibitor in the breast cancer cell line MCF-7
Thromb Res, 157, 111-116
DOI 10.1016/j.thromres.2017.07.013, PubMed 28734156
Unraveling the role of maternal anti-HLA class I antibodies in fetal and neonatal thrombocytopenia-Antibody specificity analysis using epitope data
J Reprod Immunol, 122, 1-9
DOI 10.1016/j.jri.2017.06.003, PubMed 28686909
A novel ultra high-throughput 16S rRNA gene amplicon sequencing library preparation method for the Illumina HiSeq platform
Microbiome, 5 (1), 68
DOI 10.1186/s40168-017-0279-1, PubMed 28683838
Genetic evidence for role of integration of fast and slow neurotransmission in schizophrenia
Mol Psychiatry, 22 (6), 792-801
DOI 10.1038/mp.2017.33, PubMed 28348379
Distinct multivariate brain morphological patterns and their added predictive value with cognitive and polygenic risk scores in mental disorders
Neuroimage Clin, 15, 719-731
DOI 10.1016/j.nicl.2017.06.014, PubMed 28702349
Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data
Eur J Hum Genet, 25 (7), 894-899
DOI 10.1038/ejhg.2017.61, PubMed 28513609
Gene expression profiling of fast- and slow-growing non-functioning gonadotroph pituitary adenomas
Eur J Endocrinol, 178 (3), 295-307
DOI 10.1530/EJE-17-0702, PubMed 29259037
A c-Myb mutant causes deregulated differentiation due to impaired histone binding and abrogated pioneer factor function
Nucleic Acids Res, 45 (13), 7681-7696
DOI 10.1093/nar/gkx364, PubMed 28472346
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
Am J Hum Genet, 100 (6), 907-925
DOI 10.1016/j.ajhg.2017.05.006, PubMed 28575647
Long-term prenatal exposure to paracetamol is associated with DNA methylation differences in children diagnosed with ADHD
Clin Epigenetics, 9, 77
DOI 10.1186/s13148-017-0376-9, PubMed 28785368
Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers
BMC Cancer, 17 (1), 438
DOI 10.1186/s12885-017-3422-2, PubMed 28637432
The systolic paradox in hypertrophic cardiomyopathy
Open Heart, 4 (1), e000571
DOI 10.1136/openhrt-2016-000571, PubMed 28674623
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability
J Med Genet, 55 (1), 28-38
DOI 10.1136/jmedgenet-2017-104620, PubMed 29021403
Degradation in forensic trace DNA samples explored by massively parallel sequencing
Forensic Sci Int Genet, 27, 160-166
DOI 10.1016/j.fsigen.2017.01.002, PubMed 28088090
HLA haplotypes in primary sclerosing cholangitis patients of admixed and non-European ancestry
HLA, 90 (4), 228-233
DOI 10.1111/tan.13076, PubMed 28695657
Novel genetic loci associated with hippocampal volume
Nat Commun, 8, 13624
DOI 10.1038/ncomms13624, PubMed 28098162
Whole exome sequencing of sporadic patients with Currarino Syndrome: A report of three trios
Gene, 624, 50-55
DOI 10.1016/j.gene.2017.04.030, PubMed 28456592
A Study of TNF Pathway Activation in Schizophrenia and Bipolar Disorder in Plasma and Brain Tissue
Schizophr Bull, 43 (4), 881-890
DOI 10.1093/schbul/sbw183, PubMed 28049760
Increased risk of heart failure and atrial fibrillation in heterozygous familial hypercholesterolemia
Atherosclerosis, 266, 69-73
DOI 10.1016/j.atherosclerosis.2017.09.027, PubMed 28992466
Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort
Fam Cancer, 16 (1), 1-16
DOI 10.1007/s10689-016-9916-2, PubMed 27495310
ORF7 of Varicella-Zoster Virus Is Required for Viral Cytoplasmic Envelopment in Differentiated Neuronal Cells
J Virol, 91 (12)
DOI 10.1128/JVI.00127-17, PubMed 28356523
Parents' Attitudes toward Clinical Genetic Testing for Autism Spectrum Disorder-Data from a Norwegian Sample
Int J Mol Sci, 18 (5)
DOI 10.3390/ijms18051078, PubMed 28524073
Evaluating the statistical power of DNA-based identification, exemplified by 'The missing grandchildren of Argentina'
Forensic Sci Int Genet, 31, 57-66
DOI 10.1016/j.fsigen.2017.08.006, PubMed 28858673
Cardiovascular surgery in Loeys-Dietz syndrome types 1-4
Eur J Cardiothorac Surg, 52 (6), 1125-1131
DOI 10.1093/ejcts/ezx147, PubMed 28541520
Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets
Cell Rep, 21 (9), 2597-2613
DOI 10.1016/j.celrep.2017.11.028, PubMed 29186694
Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients
Am J Med Genet A, 176 (1), 175-180
DOI 10.1002/ajmg.a.38533, PubMed 29159982
Identification of Gene Loci That Overlap Between Schizophrenia and Educational Attainment
Schizophr Bull, 43 (3), 654-664
DOI 10.1093/schbul/sbw085, PubMed 27338279
Interaction between plasma fetuin-A and free fatty acids predicts changes in insulin sensitivity in response to long-term exercise
Physiol Rep, 5 (5)
DOI 10.14814/phy2.13183, PubMed 28270597
Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway
Fam Cancer, 16 (2), 257-265
DOI 10.1007/s10689-016-9939-8, PubMed 27804060
Human cytomegalovirus IE1 downregulates Hes1 in neural progenitor cells as a potential E3 ubiquitin ligase
PLoS Pathog, 13 (7), e1006542
DOI 10.1371/journal.ppat.1006542, PubMed 28750047
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features
Eur J Hum Genet, 25 (5), 552-559
DOI 10.1038/ejhg.2017.27, PubMed 28327570
Genetic risk scores and family history as predictors of schizophrenia in Nordic registers
Psychol Med, 48 (7), 1201-1208
DOI 10.1017/S0033291717002665, PubMed 28942743
Metabolic differentiation of surface and invasive cells of yeast colony biofilms revealed by gene expression profiling
BMC Genomics, 18 (1), 814
DOI 10.1186/s12864-017-4214-4, PubMed 29061122
Combinations of genetic variants associated with bipolar disorder
PLoS One, 12 (12), e0189739
DOI 10.1371/journal.pone.0189739, PubMed 29267373
Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures
Hum Mol Genet, 26 (19), 3792-3796
DOI 10.1093/hmg/ddx263, PubMed 28934391
Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database
Gut, 67 (7), 1306-1316
DOI 10.1136/gutjnl-2017-314057, PubMed 28754778
Persistent increase in TNF and IL-1 markers in severe mental disorders suggests trait-related inflammation: a one year follow-up study
Acta Psychiatr Scand, 136 (4), 400-408
DOI 10.1111/acps.12783, PubMed 28815548
Maternal and neonatal vitamin D status, genotype and childhood celiac disease
PLoS One, 12 (7), e0179080
DOI 10.1371/journal.pone.0179080, PubMed 28686601
Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations
NPJ Genom Med, 2, 24
DOI 10.1038/s41525-017-0027-2, PubMed 29263835
A 50 year old man with proximal power failure and heart disease
Tidsskr. Nor. Laegeforen., 137 (16), 1206-1209
In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins
Biosci Rep, 37 (2)
DOI 10.1042/BSR20170251, PubMed 28396517
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
J Med Genet, 54 (7), 460-470
DOI 10.1136/jmedgenet-2016-104509, PubMed 28377535
Juvenile myasthenia gravis in Norway: HLA-DRB1*04:04 is positively associated with prepubertal onset
PLoS One, 12 (10), e0186383
DOI 10.1371/journal.pone.0186383, PubMed 29036181
GLUT1-deficiency syndrome: Report of a four-generation Norwegian family with a mild phenotype
Epilepsy Behav, 70 (Pt A), 1-4
DOI 10.1016/j.yebeh.2017.02.016, PubMed 28407523
Identification of small RNAs in extracellular vesicles from the commensal yeast Malassezia sympodialis
Sci Rep, 7, 39742
DOI 10.1038/srep39742, PubMed 28051166
Distinct DNA methylation profiles in bone and blood of osteoporotic and healthy postmenopausal women
Epigenetics, 12 (8), 674-687
DOI 10.1080/15592294.2017.1345832, PubMed 28650214
Severe hypertriglyceridemia in Norway: prevalence, clinical and genetic characteristics
Lipids Health Dis, 16 (1), 115
DOI 10.1186/s12944-017-0511-9, PubMed 28606150
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America
BMC Cancer, 17 (1), 623
DOI 10.1186/s12885-017-3599-4, PubMed 28874130
Novel UCHL1 mutations reveal new insights into ubiquitin processing
Hum Mol Genet, 26 (6), 1031-1040
DOI 10.1093/hmg/ddw391, PubMed 28007905
Severe persistent pulmonary hypertension of the newborn and dysmorphic features in neonate with a deletion involving TWIST1 and PHF14: a case report
J Med Case Rep, 11 (1), 226
DOI 10.1186/s13256-017-1402-4, PubMed 28814329
Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report
Hered Cancer Clin Pract, 15, 18
DOI 10.1186/s13053-017-0078-5, PubMed 29046738
Identification of Genetic Loci Jointly Influencing Schizophrenia Risk and the Cognitive Traits of Verbal-Numerical Reasoning, Reaction Time, and General Cognitive Function
JAMA Psychiatry, 74 (10), 1065-1075
DOI 10.1001/jamapsychiatry.2017.1986, PubMed 28746715
Identification of genetic loci shared between schizophrenia and the Big Five personality traits
Sci Rep, 7 (1), 2222
DOI 10.1038/s41598-017-02346-3, PubMed 28533504
Probing the Association between Early Evolutionary Markers and Schizophrenia
PLoS One, 12 (1), e0169227
DOI 10.1371/journal.pone.0169227, PubMed 28081145
Increased expression of TFPI in human carotid stenosis
Thromb Res, 155, 31-37
DOI 10.1016/j.thromres.2017.04.024, PubMed 28482260
Mutations affecting the transmembrane domain of the LDL receptor: impact of charged residues on the membrane insertion
Hum Mol Genet, 26 (9), 1634-1642
DOI 10.1093/hmg/ddx068, PubMed 28334946
Fetal and Maternal Genetic Variants Influencing Neonatal Vitamin D Status
J Clin Endocrinol Metab, 102 (11), 4072-4079
DOI 10.1210/jc.2017-00827, PubMed 28938476
Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report
BMC Nephrol, 18 (1), 140
DOI 10.1186/s12882-017-0563-0, PubMed 28446151
Issues with RNA-seq analysis in non-model organisms: A salmonid example
Dev Comp Immunol, 75, 38-47
DOI 10.1016/j.dci.2017.02.006, PubMed 28223254
GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium
Mol Psychiatry, 22 (3), 336-345
DOI 10.1038/mp.2016.244, PubMed 28093568
GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium
Mol Psychiatry, 22 (11), 1651-1652
DOI 10.1038/mp.2017.197, PubMed 29068436
A comprehensive profile of circulating RNAs in human serum
RNA Biol, 15 (2), 242-250
DOI 10.1080/15476286.2017.1403003, PubMed 29219730
HLA class II alleles in Norwegian patients with coexisting type 1 diabetes and celiac disease
HLA, 89 (5), 278-284
DOI 10.1111/tan.12986, PubMed 28247576
Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene
Mol Genet Metab, 123 (2), 169-176
DOI 10.1016/j.ymgme.2017.11.008, PubMed 29196158
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
Eur J Hum Genet, 25 (8), 946-951
DOI 10.1038/ejhg.2017.86, PubMed 28513610
Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases
JAMA Neurol, 74 (7), 780-792
DOI 10.1001/jamaneurol.2017.0469, PubMed 28586827
Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia
Transl Psychiatry, 7 (6), e1155
DOI 10.1038/tp.2017.115, PubMed 28632202
Rapid recovery and altered neurochemical dependence of locomotor central pattern generation following lumbar neonatal spinal cord injury
J Physiol, 596 (2), 281-303
DOI 10.1113/JP274484, PubMed 29086918
Psychotic patients who used cannabis frequently before illness onset have higher genetic predisposition to schizophrenia than those who did not
Psychol Med, 48 (1), 43-49
DOI 10.1017/S0033291717001209, PubMed 28967348