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Publications (original articles or review articles) published in 2010 from OUS - Department of Medical Genetics

60 publications found

Arason A, Gunnarsson H, Johannesdottir G, Jonasson K, Bendahl PO, Gillanders EM, Agnarsson BA, Jönsson G, Pylkäs K, Mustonen A, Heikkinen T, Aittomäki K, Blomqvist C, Melin B, Johannsson OT, Møller P, Winqvist R, Nevanlinna H, Borg A, Barkardottir RB (2010)
Genome-wide search for breast cancer linkage in large Icelandic non-BRCA1/2 families
Breast Cancer Res, 12 (4), R50
DOI 10.1186/bcr2608, PubMed 20637093

Athanasiu L, Mattingsdal M, Kähler AK, Brown A, Gustafsson O, Agartz I, Giegling I, Muglia P, Cichon S, Rietschel M, Pietiläinen OP, Peltonen L, Bramon E, Collier D, Clair DS, Sigurdsson E, Petursson H, Rujescu D, Melle I, Steen VM, Djurovic S, Andreassen OA (2010)
Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort
J Psychiatr Res, 44 (12), 748-53
DOI 10.1016/j.jpsychires.2010.02.002, PubMed 20185149

Athanasiu L, Mattingsdal M, Melle I, Inderhaug E, Lien T, Agartz I, Lorentzen S, Morken G, Andreassen OA, Djurovic S (2010)
Intron 12 in NTRK3 is associated with bipolar disorder
Psychiatry Res, 185 (3), 358-62
DOI 10.1016/j.psychres.2010.05.011, PubMed 20554328

Barøy T, Misceo D, Braaten O, Helle JR, Fannemel M, Strømme P, Frengen E (2010)
A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype
Eur J Med Genet, 53 (4), 221-4
DOI 10.1016/j.ejmg.2010.03.010, PubMed 20382277

Barøy T, Sørensen K, Lindeberg MM, Frengen E (2010)
shRNA expression constructs designed directly from siRNA oligonucleotide sequences
Mol Biotechnol, 45 (2), 116-20
DOI 10.1007/s12033-010-9247-8, PubMed 20119685

Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Friedl W, Møller P, Hes FJ, Järvinen H, Mecklin JP, Nagengast FM, Parc Y, Phillips RK, Hyer W, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A et al. (2010)
Peutz-Jeghers syndrome: a systematic review and recommendations for management
Gut, 59 (7), 975-86
DOI 10.1136/gut.2009.198499, PubMed 20581245

Berge KE, Leren TP (2010)
Mutations in APOA-I and ABCA1 in Norwegians with low levels of HDL cholesterol
Clin Chim Acta, 411 (23-24), 2019-23
DOI 10.1016/j.cca.2010.08.027, PubMed 20800056

Bodd TL, Van Ghelue M, Eiklid K, Ruud E, Møller P, Mæhle L (2010)
Fanconi anaemia, BRCA2 and familial considerations - follow up on a previous case report
Acta Paediatr, 99 (11), 1741-3
DOI 10.1111/j.1651-2227.2010.01929.x, PubMed 20608899

Chen X, Lee G, Maher BS, Fanous AH, Chen J, Zhao Z, Guo A, van den Oord E, Sullivan PF, Shi J, Levinson DF, Gejman PV, Sanders A, Duan J, Owen MJ, Craddock NJ, O'Donovan MC, Blackman J, Lewis D, Kirov GK, Qin W, Schwab S, Wildenauer D, Chowdari K, Nimgaonkar V et al. (2010)
GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia
Mol Psychiatry, 16 (11), 1117-29
DOI 10.1038/mp.2010.96, PubMed 20838396

Christensen GB, Baffoe-Bonnie AB, George A, Powell I, Bailey-Wilson JE, Carpten JD, Giles GG, Hopper JL, Severi G, English DR, Foulkes WD, Maehle L, Moller P, Eeles R, Easton D, Badzioch MD, Whittemore AS, Oakley-Girvan I, Hsieh CL, Dimitrov L, Xu J, Stanford JL, Johanneson B, Deutsch K, McIntosh L et al. (2010)
Genome-wide linkage analysis of 1,233 prostate cancer pedigrees from the International Consortium for Prostate Cancer Genetics using novel sumLINK and sumLOD analyses
Prostate, 70 (7), 735-44
DOI 10.1002/pros.21106, PubMed 20333727

Djurovic S, Gustafsson O, Mattingsdal M, Athanasiu L, Bjella T, Tesli M, Agartz I, Lorentzen S, Melle I, Morken G, Andreassen OA (2010)
A genome-wide association study of bipolar disorder in Norwegian individuals, followed by replication in Icelandic sample
J Affect Disord, 126 (1-2), 312-6
DOI 10.1016/j.jad.2010.04.007, PubMed 20451256

Eide MB, Liestøl K, Lingjaerde OC, Hystad ME, Kresse SH, Meza-Zepeda L, Myklebost O, Trøen G, Aamot HV, Holte H, Smeland EB, Delabie J (2010)
Genomic alterations reveal potential for higher grade transformation in follicular lymphoma and confirm parallel evolution of tumor cell clones
Blood, 116 (9), 1489-97
DOI 10.1182/blood-2010-03-272278, PubMed 20505157

Gjone H, Diseth TH, Fausa O, Nøvik TS, Heiberg A (2010)
Familial adenomatous polyposis: mental health, psychosocial functioning and reactions to genetic risk in adolescents
Clin Genet, 79 (1), 35-43
DOI 10.1111/j.1399-0004.2010.01534.x, PubMed 21143468

Haugaa KH, Amlie JP, Berge KE, Leren TP, Smiseth OA, Edvardsen T (2010)
Transmural differences in myocardial contraction in long-QT syndrome: mechanical consequences of ion channel dysfunction
Circulation, 122 (14), 1355-63
DOI 10.1161/CIRCULATIONAHA.110.960377, PubMed 20855658

Haugaa KH, Leren IS, Berge KE, Bathen J, Loennechen JP, Anfinsen OG, Früh A, Edvardsen T, Kongsgård E, Leren TP, Amlie JP (2010)
High prevalence of exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia mutation-positive family members diagnosed by cascade genetic screening
Europace, 12 (3), 417-23
DOI 10.1093/europace/eup448, PubMed 20106799

Holen HL, Nustad K, Aasheim HC (2010)
Activation of EphA receptors on CD4+CD45RO+ memory cells stimulates migration
J Leukoc Biol, 87 (6), 1059-68
DOI 10.1189/jlb.0709497, PubMed 20160140

Ingason A, Giegling I, Cichon S, Hansen T, Rasmussen HB, Nielsen J, Jürgens G, Muglia P, Hartmann AM, Strengman E, Vasilescu C, Mühleisen TW, Djurovic S, Melle I, Lerer B, Möller HJ, Francks C, Pietiläinen OP, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Walshe M, Vassos E, Di Forti M, Murray R et al. (2010)
A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia
Hum Mol Genet, 19 (7), 1379-86
DOI 10.1093/hmg/ddq009, PubMed 20071346

Kulseth MA, Berge KE, Bogsrud MP, Leren TP (2010)
Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site
J Hum Genet, 55 (10), 676-80
DOI 10.1038/jhg.2010.87, PubMed 20703241

Kulseth MA, Lyle R, Rødningen OK, Sorte H, Prescott T (2010)
Exon trapping analysis of c.301-19G > A in intron 1 of the SHH gene in a patient with a microform of holoprosencephaly
Eur J Med Genet, 54 (2), 130-5
DOI 10.1016/j.ejmg.2010.10.011, PubMed 21044704

Kähler AK, Otnaess MK, Wirgenes KV, Hansen T, Jönsson EG, Agartz I, Hall H, Werge T, Morken G, Mors O, Mellerup E, Dam H, Koefod P, Melle I, Steen VM, Andreassen OA, Djurovic S (2010)
Association study of PDE4B gene variants in Scandinavian schizophrenia and bipolar disorder multicenter case-control samples
Am J Med Genet B Neuropsychiatr Genet, 153B (1), 86-96
DOI 10.1002/ajmg.b.30958, PubMed 19350560

Leren IS, Haugaa KH, Edvardsen T, Anfinsen OG, Kongsgård E, Berge KE, Leren TP, Amlie JP (2010)
[Catecholaminergic polymorphic ventricular tachycardia]
Tidsskr Nor Laegeforen, 130 (2), 139-42
DOI 10.4045/tidsskr.09.0529, PubMed 20125202

Lima K, Følling I, Eiklid KL, Natvig S, Abrahamsen TG (2010)
Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome
Eur J Pediatr, 169 (8), 983-9
DOI 10.1007/s00431-010-1161-3, PubMed 20186429

Lundin A, Dietrichs E, Haghighi S, Göller ML, Heiberg A, Loutfi G, Widner H, Wiktorin K, Wiklund L, Svenningsson A, Sonesson C, Waters N, Waters S, Tedroff J (2010)
Efficacy and safety of the dopaminergic stabilizer Pridopidine (ACR16) in patients with Huntington's disease
Clin Neuropharmacol, 33 (5), 260-4
DOI 10.1097/WNF.0b013e3181ebb285, PubMed 20616707

Lyche JL, Nourizadeh-Lillabadi R, Almaas C, Stavik B, Berg V, Skåre JU, Alestrøm P, Ropstad E (2010)
Natural mixtures of persistent organic pollutants (POP) increase weight gain, advance puberty, and induce changes in gene expression associated with steroid hormones and obesity in female zebrafish
J Toxicol Environ Health A, 73 (15), 1032-57
DOI 10.1080/15287394.2010.481618, PubMed 20526952

Martinsson K, Skogh T, Mousavi SA, Berg T, Jönsson JI, Hultman P (2010)
Deficiency of activating Fcγ-receptors reduces hepatic clearance and deposition of IC and increases CIC levels in mercury-induced autoimmunity
PLoS One, 5 (10), e13413
DOI 10.1371/journal.pone.0013413, PubMed 20976163

Mero IL, Ban M, Lorentzen ÅR, Smestad C, Celius EG, Sæther H, Saeedi H, Viken MK, Skinningsrud B, Undlien DE, Aarseth J, Myhr KM, Granum S, Spurkland A, Sawcer S, Compston A, Lie BA, Harbo HF (2010)
Exploring the CLEC16A gene reveals a MS-associated variant with correlation to the relative expression of CLEC16A isoforms in thymus
Genes Immun, 12 (3), 191-8
DOI 10.1038/gene.2010.59, PubMed 21179112

Mitra AV, Bancroft EK, Barbachano Y, Page EC, Foster CS, Jameson C, Mitchell G, Lindeman GJ, Stapleton A, Suthers G, Evans DG, Cruger D, Blanco I, Mercer C, Kirk J, Maehle L, Hodgson S, Walker L, Izatt L, Douglas F, Tucker K, Dorkins H, Clowes V, Male A, Donaldson A et al. (2010)
Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study
BJU Int, 107 (1), 28-39
DOI 10.1111/j.1464-410X.2010.09648.x, PubMed 20840664

Munthe-Kaas MC, Torjussen TM, Gervin K, Lødrup Carlsen KC, Carlsen KH, Granum B, Hjorthaug HS, Undlien D, Lyle R (2010)
CD14 polymorphisms and serum CD14 levels through childhood: a role for gene methylation?
J Allergy Clin Immunol, 125 (6), 1361-8
DOI 10.1016/j.jaci.2010.02.010, PubMed 20398919

Møller P, Mæhle L, Engebretsen LF, Ludvigsen T, Jonsrud C, Apold J, Vabø A, Clark N (2010)
High penetrances of BRCA1 and BRCA2 mutations confirmed in a prospective series
Hered Cancer Clin Pract, 8 (1), 2
DOI 10.1186/1897-4287-8-2, PubMed 20180971

Möller T, Leren TP, Eiklid KL, Holmstrøm H, Fredriksen PM, Thaulow E (2010)
A novel BMPR2 gene mutation associated with exercise-induced pulmonary hypertension in septal defects
Scand Cardiovasc J, 44 (6), 331-6
DOI 10.3109/14017431.2010.525747, PubMed 21070126

Nordestgaard BG, Kontula K, Benn M, Dahlöf B, de Faire U, Edelman JM, Eliasson E, Fyhrquist F, Hille DA, Ibsen H, Lyle PA, Berg K, Sandberg M, Sethi AA, Wong PH, Os I (2010)
Effect of ACE insertion/deletion and 12 other polymorphisms on clinical outcomes and response to treatment in the LIFE study
Pharmacogenet Genomics, 20 (2), 77-85
DOI 10.1097/FPC.0b013e328333f70b, PubMed 20065889

Roslev P, Bukh AS, Iversen L, Sønderbo H, Iversen N (2010)
Application of mussels as biosamplers for characterization of faecal pollution in coastal recreational waters
Water Sci Technol, 62 (3), 586-93
DOI 10.2166/wst.2010.910, PubMed 20706005

Rødningen OK, Prescott TE, Hovland R, Eiklid K, Houge G (2010)
[Determination of chromosome aberrations with the help of DNA arrays]
Tidsskr Nor Laegeforen, 130 (9), 944-7
DOI 10.4045/tidsskr.10.0101, PubMed 20453958

Saetre P, Lundmark P, Wang A, Hansen T, Rasmussen HB, Djurovic S, Melle I, Andreassen OA, Werge T, Agartz I, Hall H, Terenius L, Jönsson EG (2010)
The tryptophan hydroxylase 1 (TPH1) gene, schizophrenia susceptibility, and suicidal behavior: a multi-centre case-control study and meta-analysis
Am J Med Genet B Neuropsychiatr Genet, 153B (2), 387-396
DOI 10.1002/ajmg.b.30991, PubMed 19526457

Sandve SR, Rudi H, Dorum G, Vigeland MD, Berg PR, Rognli OA (2010)
Genotyping Unknown Genomic Terrain in Complex Plant Genomes
SUSTAINABLE USE OF GENETIC DIVERSITY IN FORAGE AND TURF BREEDING, 455-+
DOI 10.1007/978-90-481-8706-5_67

Sanner H, Kirkhus E, Merckoll E, Tollisen A, Røisland M, Lie BA, Taraldsrud E, Gran JT, Flatø B (2010)
Long-term muscular outcome and predisposing and prognostic factors in juvenile dermatomyositis: A case-control study
Arthritis Care Res (Hoboken), 62 (8), 1103-11
DOI 10.1002/acr.20203, PubMed 20506141

Shaw AC, van Balkom ID, Bauer M, Cole TR, Delrue MA, Van Haeringen A, Holmberg E, Knight SJ, Mortier G, Nampoothiri S, Pušeljić S, Zenker M, Cormier-Daire V, Hennekam RC (2010)
Phenotype and natural history in Marshall-Smith syndrome
Am J Med Genet A, 152A (11), 2714-26
DOI 10.1002/ajmg.a.33709, PubMed 20949508

Siem G, Fagerheim T, Jonsrud C, Laurent C, Teig E, Harris S, Leren TP, Früh A, Heimdal K (2010)
Causes of hearing impairment in the Norwegian paediatric cochlear implant program
Int J Audiol, 49 (8), 596-605
DOI 10.3109/14992021003743269, PubMed 20553101

Sjursen W, Haukanes BI, Grindedal EM, Aarset H, Stormorken A, Engebretsen LF, Jonsrud C, Bjørnevoll I, Andresen PA, Ariansen S, Lavik LA, Gilde B, Bowitz-Lothe IM, Maehle L, Møller P (2010)
Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers
J Med Genet, 47 (9), 579-85
DOI 10.1136/jmg.2010.077677, PubMed 20587412

Skinner JR, Crawford J, Smith W, Aitken A, Heaven D, Evans CA, Hayes I, Neas KR, Stables S, Koelmeyer T, Denmark L, Vuletic J, Maxwell F, White K, Yang T, Roden DM, Leren TP, Shelling A, Love DR, Cardiac Inherited Disease Group New Zealand (2010)
Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds
Heart Rhythm, 8 (3), 412-9
DOI 10.1016/j.hrthm.2010.11.016, PubMed 21070882

Skretting G, Stavik B, Landvik NE, Myklebust CF, Iversen N, Zienolddiny S, Sandset PM (2010)
Functional characterization of polymorphisms in the human TFPI gene
Biochem Biophys Res Commun, 397 (1), 106-11
DOI 10.1016/j.bbrc.2010.05.078, PubMed 20519147

Slagsvold JE, Pettersen CH, Størvold GL, Follestad T, Krokan HE, Schønberg SA (2010)
DHA alters expression of target proteins of cancer therapy in chemotherapy resistant SW620 colon cancer cells
Nutr Cancer, 62 (5), 611-21
DOI 10.1080/01635580903532366, PubMed 20574922

Stavik B, Skretting G, Sletten M, Sandset PM, Iversen N (2010)
Overexpression of both TFPIα and TFPIβ induces apoptosis and expression of genes involved in the death receptor pathway in breast cancer cells
Mol Carcinog, 49 (11), 951-63
DOI 10.1002/mc.20679, PubMed 20886581

Steen NE, Tesli M, Kähler AK, Methlie P, Hope S, Barrett EA, Larsson S, Mork E, Løvås K, Røssberg JI, Agartz I, Melle I, Djurovic S, Lorentzen S, Berg JP, Andreassen OA (2010)
SRD5A2 is associated with increased cortisol metabolism in schizophrenia spectrum disorders
Prog Neuropsychopharmacol Biol Psychiatry, 34 (8), 1500-6
DOI 10.1016/j.pnpbp.2010.08.013, PubMed 20800085

Steinberg S, Mors O, Børglum AD, Gustafsson O, Werge T, Mortensen PB, Andreassen OA, Sigurdsson E, Thorgeirsson TE, Böttcher Y, Olason P, Ophoff RA, Cichon S, Gudjonsdottir IH, Pietiläinen OP, Nyegaard M, Tuulio-Henriksson A, Ingason A, Hansen T, Athanasiu L, Suvisaari J, Lonnqvist J, Paunio T, Hartmann A, Jürgens G et al. (2010)
Expanding the range of ZNF804A variants conferring risk of psychosis
Mol Psychiatry, 16 (1), 59-66
DOI 10.1038/mp.2009.149, PubMed 20048749

Stene LC, Rønningen KS, Undlien DE, Joner G (2010)
Does the relative risk for type 1 diabetes conferred by HLA-DQ, INS, and PTPN22 polymorphisms vary with maternal age, birth weight, or cesarean section?
Pediatr Diabetes, 12 (2), 91-4
DOI 10.1111/j.1399-5448.2010.00669.x, PubMed 21352425

Strøm TB, Holla ØL, Tveten K, Cameron J, Berge KE, Leren TP (2010)
Disrupted recycling of the low density lipoprotein receptor by PCSK9 is not mediated by residues of the cytoplasmic domain
Mol Genet Metab, 101 (1), 76-80
DOI 10.1016/j.ymgme.2010.05.003, PubMed 20659812

Tesli M, Athanasiu L, Mattingsdal M, Kähler AK, Gustafsson O, Andreassen BK, Werge T, Hansen T, Mors O, Mellerup E, Koefoed P, Jönsson EG, Agartz I, Melle I, Morken G, Djurovic S, Andreassen OA (2010)
Association analysis of PALB2 and BRCA2 in bipolar disorder and schizophrenia in a scandinavian case-control sample
Am J Med Genet B Neuropsychiatr Genet, 153B (7), 1276-82
DOI 10.1002/ajmg.b.31098, PubMed 20872766

Tjeldhorn L, Iversen N, Sandvig K, Bergan J, Sandset PM, Skretting G (2010)
Functional characterization of the protein C A267T mutation: evidence for impaired secretion due to defective intracellular transport
BMC Cell Biol, 11, 67
DOI 10.1186/1471-2121-11-67, PubMed 20815936

Vares M, Saetre P, Deng H, Cai G, Liu X, Hansen T, Rasmussen HB, Werge T, Melle I, Djurovic S, Andreassen OA, Agartz I, Hall H, Terenius L, Jönsson EG (2010)
Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and age of onset in schizophrenia
Am J Med Genet B Neuropsychiatr Genet, 153B (2), 610-618
DOI 10.1002/ajmg.b.31030, PubMed 19746410

von der Lippe C, Rustad C, Heimdal K, Rødningen OK (2010)
15q11.2 microdeletion - seven new patients with delayed development and/or behavioural problems
Eur J Med Genet, 54 (3), 357-60
DOI 10.1016/j.ejmg.2010.12.008, PubMed 21187176

Wagle J, Farner L, Flekkøy K, Wyller TB, Sandvik L, Eiklid KL, Fure B, Stensrød B, Engedal K (2010)
Cognitive impairment and the role of the ApoE epsilon4-allele after stroke--a 13 months follow-up study
Int J Geriatr Psychiatry, 25 (8), 833-42
DOI 10.1002/gps.2425, PubMed 19960482

Wangensteen T, Akselsen H, Holmen J, Undlien D, Retterstøl L (2010)
A common haplotype in NAPEPLD is associated with severe obesity in a Norwegian population-based cohort (the HUNT study)
Obesity (Silver Spring), 19 (3), 612-7
DOI 10.1038/oby.2010.219, PubMed 20885390

Wangensteen T, Egeland T, Akselsen H, Holmen J, Undlien D, Retterstøl L (2010)
FTO genotype and weight gain in obese and normal weight adults from a Norwegian population based cohort (the HUNT study)
Exp Clin Endocrinol Diabetes, 118 (9), 649-52
DOI 10.1055/s-0030-1249636, PubMed 20373279

Wirgenes KV, Djurovic S, Sundet K, Agartz I, Mattingsdal M, Athanasiu L, Melle I, Andreassen OA (2010)
Catechol O-methyltransferase variants and cognitive performance in schizophrenia and bipolar disorder versus controls
Schizophr Res, 122 (1-3), 31-7
DOI 10.1016/j.schres.2010.05.007, PubMed 20605701

Xiong J, Liu J, Rayner S, Li Y, Chen S (2010)
Protein-protein interaction reveals synergistic discrimination of cancer phenotype
Cancer Inform, 9, 61-6
DOI 10.4137/cin.s3899, PubMed 20458363

Xiong J, Liu J, Rayner S, Tian Z, Li Y, Chen S (2010)
Pre-clinical drug prioritization via prognosis-guided genetic interaction networks
PLoS One, 5 (11), e13937
DOI 10.1371/journal.pone.0013937, PubMed 21085674

Yin Y, Xiao Y, Liu HZ, Hao F, Rayner S, Tang H, Zhou NY (2010)
Characterization of catabolic meta-nitrophenol nitroreductase from Cupriavidus necator JMP134
Appl Microbiol Biotechnol, 87 (6), 2077-85
DOI 10.1007/s00253-010-2666-4, PubMed 20508930

Zhang Y, Hu Y, Yang B, Ma F, Lu P, Li L, Wan C, Rayner S, Chen S (2010)
Duckweed (Lemna minor) as a model plant system for the study of human microbial pathogenesis
PLoS One, 5 (10), e13527
DOI 10.1371/journal.pone.0013527, PubMed 21049039

Aasebø W, Strøm EH, Hovig T, Undset LH, Heiberg A, Jenssen T (2010)
Fabry disease in donor kidneys with 3- and 12-year follow-up after transplantation
NDT Plus, 3 (3), 303-305
DOI 10.1093/ndtplus/sfq036, PubMed 28657066