Publications

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Publications (original articles or review articles) published in 2017 from OUS - Department of Medical Genetics

22 publications found

Andresen MS, Ali HO, Myklebust CF, Sandset PM, Stavik B, Iversen N, Skretting G (2017)
Estrogen induced expression of tissue factor pathway inhibitor-2 in MCF7 cells involves lysine-specific demethylase 1
Mol Cell Endocrinol, 443, 80-88
PubMed 28088469

Cockerell I, Guenin M, Heimdal K, Bjørnvold M, Selmer KK, Rouvière O (2017)
Prevalence of Renal Angiomyolipomas and Spontaneous Bleeding Related to Angiomyolipomas in Tuberous Sclerosis Complex Patients in France and Norway-a Questionnaire Study
Urology (in press)
PubMed 28232177

Gansmo LB, Bjørnslett M, Halle MK, Salvesen HB, Romundstad P, Hveem K, Vatten L, Dørum A, Lønning PE, Knappskog S (2017)
MDM2 promoter polymorphism del1518 (rs3730485) and its impact on endometrial and ovarian cancer risk
BMC Cancer, 17 (1), 97
PubMed 28158999

Hanssen EN, Lyle R, Egeland T, Gill P (2017)
Degradation in forensic trace DNA samples explored by massively parallel sequencing
Forensic Sci Int Genet, 27, 160-166
PubMed 28088090

Hibar DP, Adams HH, Jahanshad N, Chauhan G, Stein JL, Hofer E, Renteria ME, Bis JC, Arias-Vasquez A, Ikram MK, Desrivières S, Vernooij MW, Abramovic L, Alhusaini S, Amin N, Andersson M, Arfanakis K, Aribisala BS, Armstrong NJ, Athanasiu L, Axelsson T, Beecham AH, Beiser A, Bernard M, Blanton SH et al. (2017)
Novel genetic loci associated with hippocampal volume
Nat Commun, 8, 13624
PubMed 28098162

Hoseth EZ, Ueland T, Dieset I, Birnbaum R, Shin JH, Kleinman JE, Hyde TM, Mørch RH, Hope S, Lekva T, Abraityte AJ, Michelsen AE, Melle I, Westlye LT, Ueland T, Djurovic S, Aukrust P, Weinberger DR, Andreassen OA (2017)
A Study of TNF Pathway Activation in Schizophrenia and Bipolar Disorder in Plasma and Brain Tissue
Schizophr Bull (in press)
PubMed 28049760

Jarhelle E, Riise Stensland HM, Mæhle L, Van Ghelue M (2017)
Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort
Fam Cancer, 16 (1), 1-16
PubMed 27495310

Jiang HF, Wang W, Jiang X, Zeng WB, Shen ZZ, Song YG, Yang H, Liu XJ, Dong X, Zhou J, Sun JY, Yu FL, Guo L, Cheng T, Rayner S, Zhao F, Zhu H, Luo MH (2017)
ORF7 of Varicella-Zoster Virus Is Required for Viral Cytoplasmic Envelopment in Differentiated Neuronal Cells
J Virol (in press)
PubMed 28356523

Le Hellard S, Wang Y, Witoelar A, Zuber V, Bettella F, Hugdahl K, Espeseth T, Steen VM, Melle I, Desikan R, Schork AJ, Thompson WK, Dale AM, Djurovic S, Andreassen OA, Schizophrenia Working Group of the Psychiatric Genomics Consortium (2017)
Identification of Gene Loci That Overlap Between Schizophrenia and Educational Attainment
Schizophr Bull, 43 (3), 654-664
PubMed 27338279

Lee S, Norheim F, Gulseth HL, Langleite TM, Kolnes KJ, Tangen DS, Stadheim HK, Gilfillan GD, Holen T, Birkeland KI, Jensen J, Drevon CA (2017)
Interaction between plasma fetuin-A and free fatty acids predicts changes in insulin sensitivity in response to long-term exercise
Physiol Rep, 5 (5)
PubMed 28270597

Levin T, Mæhle L (2017)
Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway
Fam Cancer, 16 (2), 257-265
PubMed 27804060

Low KJ, Ansari M, Abou Jamra R, Clarke A, El Chehadeh S, FitzPatrick DR, Greenslade M, Henderson A, Hurst J, Keller K, Kuentz P, Prescott T, Roessler F, Selmer KK, Schneider MC, Stewart F, Tatton-Brown K, Thevenon J, Vigeland MD, Vogt J, Willems M, Zonana J, Study DD, Smithson SF (2017)
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
PubMed 28327570

Pakdaman Y, Sanchez-Guixé M, Kleppe R, Erdal S, Bustad HJ, Bjørkhaug L, Haugarvoll K, Tzoulis C, Heimdal K, Knappskog PM, Johansson S, Aukrust I (2017)
-In vitrocharacterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins
Biosci Rep (in press)
PubMed 28396517

Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A et al. (2017)
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
J Med Genet (in press)
PubMed 28377535

Ramm-Pettersen A, Nakken KO, Haavardsholm KC, Selmer KK (2017)
GLUT1-deficiency syndrome: Report of a four-generation Norwegian family with a mild phenotype
Epilepsy Behav, 70 (Pt A), 1-4 (in press)
PubMed 28407523

Rayner S, Bruhn S, Vallhov H, Andersson A, Billmyre RB, Scheynius A (2017)
Identification of small RNAs in extracellular vesicles from the commensal yeast Malassezia sympodialis
Sci Rep, 7, 39742
PubMed 28051166

Rydning SL, Backe PH, Sousa MML, Iqbal Z, Øye AM, Sheng Y, Yang M, Lin X, Slupphaug G, Nordenmark TH, Vigeland MD, Bjørås M, Tallaksen CM, Selmer KK (2017)
Novel UCHL1 mutations reveal new insights into ubiquitin processing
Hum Mol Genet, 26 (6), 1217-1218
PubMed 28334853

Rydning SL, Backe PH, Sousa MML, Iqbal Z, Øye AM, Sheng Y, Yang M, Lin X, Slupphaug G, Nordenmark TH, Vigeland MD, Bjørås M, Tallaksen CM, Selmer KK (2017)
Novel UCHL1 mutations reveal new insights into ubiquitin processing
Hum Mol Genet, 26 (6), 1031-1040
PubMed 28007905

Srinivasan S, Bettella F, Hassani S, Wang Y, Witoelar A, Schork AJ, Thompson WK, Collier DA, Desikan RS, Melle I, Dale AM, Djurovic S, Andreassen OA (2017)
Probing the Association between Early Evolutionary Markers and Schizophrenia
PLoS One, 12 (1), e0169227
PubMed 28081145

Strøm TB, Laerdahl JK, Leren TP (2017)
Mutations affecting the transmembrane domain of the LDL receptor: impact of charged residues on the membrane insertion
Hum Mol Genet (in press)
PubMed 28334946

Trampush JW, Yang ML, Yu J, Knowles E, Davies G, Liewald DC, Starr JM, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B, Roussos P, Giakoumaki S, Burdick KE et al. (2017)
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
PubMed 28093568

Viken MK, Flåm ST, Skrivarhaug T, Amundsen SS, Sollid LM, Drivvoll AK, Joner G, Dahl-Jørgensen K, Lie BA (2017)
HLA class II alleles in Norwegian patients with coexisting type 1 diabetes and celiac disease
HLA, 89 (5), 278-284
PubMed 28247576