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Publications (original articles or review articles) published in 2012 from OUS - Department of Medical Genetics

84 publications found

Abildgaard U, Heimdal K (2012)
Pathogenesis of the syndrome of hemolysis, elevated liver enzymes, and low platelet count (HELLP): a review
Eur J Obstet Gynecol Reprod Biol, 166 (2), 117-23
DOI 10.1016/j.ejogrb.2012.09.026, PubMed 23107053

Adams JT, Gray DJ, Rayner S (2012)
Observation of non-principal plane neutral points in the upwelling polarized light field above a water surface
Appl Opt, 51 (22), 5387-91
DOI 10.1364/AO.51.005387, PubMed 22859026

Bailey-Wilson JE, Childs EJ, Cropp CD, Schaid DJ, Xu J, Camp NJ, Cannon-Albright LA, Farnham JM, George A, Powell I, Carpten JD, Giles GG, Hopper JL, Severi G, English DR, Foulkes WD, Mæhle L, Møller P, Eeles R, Easton D, Guy M, Edwards S, Badzioch MD, Whittemore AS, Oakley-Girvan I et al. (2012)
Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families
BMC Med Genet, 13, 46
DOI 10.1186/1471-2350-13-46, PubMed 22712434

Bakken TE, Roddey JC, Djurovic S, Akshoomoff N, Amaral DG, Bloss CS, Casey BJ, Chang L, Ernst TM, Gruen JR, Jernigan TL, Kaufmann WE, Kenet T, Kennedy DN, Kuperman JM, Murray SS, Sowell ER, Rimol LM, Mattingsdal M, Melle I, Agartz I, Andreassen OA, Schork NJ, Dale AM, Alzheimer's Disease Neuroimaging Initiative et al. (2012)
Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans
Proc Natl Acad Sci U S A, 109 (10), 3985-90
DOI 10.1073/pnas.1105829109, PubMed 22343285

Belengeanu D, Bratu C, Stoian M, Motoc A, Ormerod E, Podariu AC, Farcaş S, Andreescu N (2012)
The heterogeneity of craniofacial morphology in Prader-Willi patients
Rom J Morphol Embryol, 53 (3), 527-32
PubMed 22990543

Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U et al. (2012)
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability
Hum Mutat, 34 (1), 237-47
DOI 10.1002/humu.22224, PubMed 23033313

Bjørnslett M, Knappskog S, Lønning PE, Dørum A (2012)
Effect of the MDM2 promoter polymorphisms SNP309T>G and SNP285G>C on the risk of ovarian cancer in BRCA1 mutation carriers
BMC Cancer, 12, 454
DOI 10.1186/1471-2407-12-454, PubMed 23039163

Bober MB, Niiler T, Duker AL, Murray JE, Ketterer T, Harley ME, Alvi S, Flora C, Rustad C, Bongers EM, Bicknell LS, Wise C, Jackson AP (2012)
Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations
Am J Med Genet A, 158A (11), 2719-25
DOI 10.1002/ajmg.a.35447, PubMed 22821869

Brown AA, Jensen J, Nikolova YS, Djurovic S, Agartz I, Server A, Ferrell RE, Manuck SB, Mattingsdal M, Melle I, Hariri AR, Frigessi A, Andreassen OA (2012)
Genetic variants affecting the neural processing of human facial expressions: evidence using a genome-wide functional imaging approach
Transl Psychiatry, 2 (7), e143
DOI 10.1038/tp.2012.67, PubMed 22828495

Callewaert B, Su CT, Van Damme T, Vlummens P, Malfait F, Vanakker O, Schulz B, Mac Neal M, Davis EC, Lee JG, Salhi A, Unger S, Heimdal K, De Almeida S, Kornak U, Gaspar H, Bresson JL, Prescott K, Gosendi ME, Mansour S, Piérard GE, Madan-Khetarpal S, Sciurba FC, Symoens S, Coucke PJ et al. (2012)
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa
Hum Mutat, 34 (1), 111-21
DOI 10.1002/humu.22165, PubMed 22829427

Cameron J, Bogsrud MP, Tveten K, Strøm TB, Holven K, Berge KE, Leren TP (2012)
Serum levels of proprotein convertase subtilisin/kexin type 9 in subjects with familial hypercholesterolemia indicate that proprotein convertase subtilisin/kexin type 9 is cleared from plasma by low-density lipoprotein receptor-independent pathways
Transl Res, 160 (2), 125-30
DOI 10.1016/j.trsl.2012.01.010, PubMed 22683370

Christoforou A, Dondrup M, Mattingsdal M, Mattheisen M, Giddaluru S, Nöthen MM, Rietschel M, Cichon S, Djurovic S, Andreassen OA, Jonassen I, Steen VM, Puntervoll P, Le Hellard S (2012)
Linkage-disequilibrium-based binning affects the interpretation of GWASs
Am J Hum Genet, 90 (4), 727-33
DOI 10.1016/j.ajhg.2012.02.025, PubMed 22444669

Colman JE, Lilleeng MS, Tsegaye D, Vigeland MD, Reimers E (2012)
Responses of wild reindeer (Rangifer tarandus tarandus) when provoked by a snow-kiter or skier: A model approach
Appl. Anim. Behav. Sci., 142 (1-2), 82-89
DOI 10.1016/j.applanim.2012.08.009

Daha NA, Lie BA, Trouw LA, Stoeken G, Schonkeren JJ, Ding B, Kvien TK, Schilham MW, Padyukov L, Huizinga TW, Toes R (2012)
Novel genetic association of the VTCN1 region with rheumatoid arthritis
Ann Rheum Dis, 71 (4), 567-71
DOI 10.1136/annrheumdis-2011-200574, PubMed 22323440

Daniel PB, Morgan T, Alanay Y, Bijlsma E, Cho TJ, Cole T, Collins F, David A, Devriendt K, Faivre L, Ikegawa S, Jacquemont S, Jesic M, Krakow D, Liebrecht D, Maitz S, Marlin S, Morin G, Nishikubo T, Nishimura G, Prescott T, Scarano G, Shafeghati Y, Skovby F, Tsutsumi S et al. (2012)
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity
Hum Mutat, 33 (4), 665-73
DOI 10.1002/humu.22012, PubMed 22190451

Dheyauldeen S, Østertun Geirdal A, Osnes T, Vartdal LS, Dollner R (2012)
Bevacizumab in hereditary hemorrhagic telangiectasia-associated epistaxis: effectiveness of an injection protocol based on the vascular anatomy of the nose
Laryngoscope, 122 (6), 1210-4
DOI 10.1002/lary.23303, PubMed 22565282

Dieset I, Djurovic S, Tesli M, Hope S, Mattingsdal M, Michelsen A, Joa I, Larsen TK, Agartz I, Melle I, Røssberg JI, Aukrust P, Andreassen OA, Ueland T (2012)
Up-regulation of NOTCH4 gene expression in bipolar disorder
Am J Psychiatry, 169 (12), 1292-300
DOI 10.1176/appi.ajp.2012.11091431, PubMed 23212060

Duan Y, Miao L, Ye H, Yang C, Fu B, Schwartz PH, Rayner S, Fortunato EA, Luo MH (2012)
A faster immunofluorescence assay for tracking infection progress of human cytomegalovirus
Acta Biochim Biophys Sin (Shanghai), 44 (7), 597-605
DOI 10.1093/abbs/gms041, PubMed 22659494

Eike MC, Skinningsrud B, Ronninger M, Stormyr A, Kvien TK, Joner G, Njølstad PR, Førre O, Flatø B, Alfredsson L, Padyukov L, Undlien DE, Lie BA (2012)
CIITA gene variants are associated with rheumatoid arthritis in Scandinavian populations
Genes Immun, 13 (5), 431-6
DOI 10.1038/gene.2012.11, PubMed 22513452

Ersland KM, Christoforou A, Stansberg C, Espeseth T, Mattheisen M, Mattingsdal M, Hardarson GA, Hansen T, Fernandes CP, Giddaluru S, Breuer R, Strohmaier J, Djurovic S, Nöthen MM, Rietschel M, Lundervold AJ, Werge T, Cichon S, Andreassen OA, Reinvang I, Steen VM, Le Hellard S (2012)
Gene-based analysis of regionally enriched cortical genes in GWAS data sets of cognitive traits and psychiatric disorders
PLoS One, 7 (2), e31687
DOI 10.1371/journal.pone.0031687, PubMed 22384057

Floor K, Barøy T, Misceo D, Kanavin OJ, Fannemel M, Frengen E (2012)
A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features
Eur J Med Genet, 55 (12), 695-9
DOI 10.1016/j.ejmg.2012.08.002, PubMed 22986108

Forsberg LA, Rasi C, Razzaghian HR, Pakalapati G, Waite L, Thilbeault KS, Ronowicz A, Wineinger NE, Tiwari HK, Boomsma D, Westerman MP, Harris JR, Lyle R, Essand M, Eriksson F, Assimes TL, Iribarren C, Strachan E, O'Hanlon TP, Rider LG, Miller FW, Giedraitis V, Lannfelt L, Ingelsson M, Piotrowski A et al. (2012)
Age-related somatic structural changes in the nuclear genome of human blood cells
Am J Hum Genet, 90 (2), 217-28
DOI 10.1016/j.ajhg.2011.12.009, PubMed 22305530

Geirdal AØ, Dheyauldeen S, Bachmann-Harildstad G, Heimdal K (2012)
Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: a population based study
Am J Med Genet A, 158A (6), 1269-78
DOI 10.1002/ajmg.a.35309, PubMed 22529055

Geirdal AØ, Dheyauldeen S, Bachmann-Harildstad G, Heimdal K (2012)
Living with hereditary haemorrhagic telangiectasia: coping and psychological distress - a cross-sectional study
Disabil Rehabil, 35 (3), 206-13
DOI 10.3109/09638288.2012.690500, PubMed 22671535

Gervin K, Vigeland MD, Mattingsdal M, Hammerø M, Nygård H, Olsen AO, Brandt I, Harris JR, Undlien DE, Lyle R (2012)
DNA methylation and gene expression changes in monozygotic twins discordant for psoriasis: identification of epigenetically dysregulated genes
PLoS Genet, 8 (1), e1002454
DOI 10.1371/journal.pgen.1002454, PubMed 22291603

Gilfillan GD, Hughes T, Sheng Y, Hjorthaug HS, Straub T, Gervin K, Harris JR, Undlien DE, Lyle R (2012)
Limitations and possibilities of low cell number ChIP-seq
BMC Genomics, 13, 645
DOI 10.1186/1471-2164-13-645, PubMed 23171294

Hamfjord J, Stangeland AM, Hughes T, Skrede ML, Tveit KM, Ikdahl T, Kure EH (2012)
Differential expression of miRNAs in colorectal cancer: comparison of paired tumor tissue and adjacent normal mucosa using high-throughput sequencing
PLoS One, 7 (4), e34150
DOI 10.1371/journal.pone.0034150, PubMed 22529906

Hansen JS, Nygaard UC, Lyle R, Lovik M (2012)
Early life interventions to prevent allergy in the offspring: the role of maternal immunization and postnatal mucosal allergen exposure
Int Arch Allergy Immunol, 158 (3), 261-75
DOI 10.1159/000332963, PubMed 22398405

Harbo HF, Mero IL (2012)
From genes to characteristics of multiple sclerosis
Acta Neurol Scand Suppl (195), 76-83
DOI 10.1111/ane.12027, PubMed 23278661

Hekman KE, Yu GY, Brown CD, Zhu H, Du X, Gervin K, Undlien DE, Peterson A, Stevanin G, Clark HB, Pulst SM, Bird TD, White KP, Gomez CM (2012)
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult
Hum Mol Genet, 21 (26), 5472-83
DOI 10.1093/hmg/dds392, PubMed 23001565

Hou D, Zhang L, Deng F, Fang W, Wang R, Liu X, Guo L, Rayner S, Chen X, Wang H, Hu Z (2012)
Comparative proteomics reveal fundamental structural and functional differences between the two progeny phenotypes of a baculovirus
J Virol, 87 (2), 829-39
DOI 10.1128/JVI.02329-12, PubMed 23115289

Hu C, Xiong N, Zhang Y, Rayner S, Chen S (2012)
Functional characterization of lipase in the pathogenesis of Staphylococcus aureus
Biochem Biophys Res Commun, 419 (4), 617-20
DOI 10.1016/j.bbrc.2012.02.057, PubMed 22369949

Hu Y, Feng L, Li Y, Zhang Y, Lu P, Rayner S, Chen S (2012)
Ribosomal binding site switching: an effective strategy for high-throughput cloning constructions
PLoS One, 7 (11), e50142
DOI 10.1371/journal.pone.0050142, PubMed 23185557

Huanyu W, Haiyan W, Shihong F, Guifang L, Hong L, Xiaoyan G, Lizhi S, Rayner S, Aiqiang X, Guodong L (2012)
Isolation and identification of a distinct strain of Culex Flavivirus from mosquitoes collected in Mainland China
Virol J, 9, 73
DOI 10.1186/1743-422X-9-73, PubMed 22452813

Ievglevskyi O, Palygin O, Kondratskaya E, Grebenyuk S, Krishtal O (2012)
Modulation of ATP-induced LTP by cannabinoid receptors in rat hippocampus
Purinergic Signal, 8 (4), 705-13
DOI 10.1007/s11302-012-9296-5, PubMed 22453905

Isaksen J, Bryn V, Diseth TH, Heiberg A, Schjølberg S, Skjeldal OH (2012)
Children with autism spectrum disorders - the importance of medical investigations
Eur J Paediatr Neurol, 17 (1), 68-76
DOI 10.1016/j.ejpn.2012.08.004, PubMed 22954514

Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, de Brouwer AP, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A, van Bokhoven H (2012)
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability
Am J Hum Genet, 91 (1), 73-82
DOI 10.1016/j.ajhg.2012.05.003, PubMed 22726846

Knappskog S, Gansmo LB, Romundstad P, Bjørnslett M, Trovik J, Sommerfelt-Pettersen J, Løkkevik E, Norwegian Breast Cancer Group trial NBCG VI, Tollenaar RA, Seynaeve C, Devilee P, Salvesen HB, Dørum A, Hveem K, Vatten L, Lønning PE (2012)
MDM2 promoter SNP344T>A (rs1196333) status does not affect cancer risk
PLoS One, 7 (4), e36263
DOI 10.1371/journal.pone.0036263, PubMed 22558411

Kähler AK, Rimol LM, Brown AA, Djurovic S, Hartberg CB, Melle I, Dale AM, Andreassen OA, Agartz I (2012)
Effect of DISC1 SNPs on brain structure in healthy controls and patients with a history of psychosis
Am J Med Genet B Neuropsychiatr Genet, 159B (6), 722-30
DOI 10.1002/ajmg.b.32076, PubMed 22815203

Larsen MK, Berge KE, Leren TP, Nissen PH, Hansen J, Kristensen IB, Banner J, Jensen HK (2012)
Postmortem genetic testing of the ryanodine receptor 2 (RYR2) gene in a cohort of sudden unexplained death cases
Int J Legal Med, 127 (1), 139-44
DOI 10.1007/s00414-011-0658-2, PubMed 22222782

Leidenroth A, Sorte HS, Gilfillan G, Ehrlich M, Lyle R, Hewitt JE (2012)
Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis
Eur J Hum Genet, 20 (9), 999-1003
DOI 10.1038/ejhg.2012.42, PubMed 22378277

Lu P, Zhang Y, Li L, Hu Y, Huang L, Li Y, Rayner S, Chen S (2012)
Small non-coding RNA SraG regulates the operon YPK_1206-1205 in Yersinia pseudotuberculosis
FEMS Microbiol Lett, 331 (1), 37-43
DOI 10.1111/j.1574-6968.2012.02548.x, PubMed 22428705

Lund C, Bremer A, Lossius MI, Selmer KK, Brodtkorb E, Nakken KO (2012)
[Dravet syndrome as a cause of epilepsy and learning disability]
Tidsskr Nor Laegeforen, 132 (1), 44-7
DOI 10.4045/tidsskr.11.0539, PubMed 22240828

Maniaol AH, Elsais A, Lorentzen ÅR, Owe JF, Viken MK, Sæther H, Flåm ST, Bråthen G, Kampman MT, Midgard R, Christensen M, Rognerud A, Kerty E, Gilhus NE, Tallaksen CM, Lie BA, Harbo HF (2012)
Late onset myasthenia gravis is associated with HLA DRB1*15:01 in the Norwegian population
PLoS One, 7 (5), e36603
DOI 10.1371/journal.pone.0036603, PubMed 22590574

Marduel M, Ouguerram K, Serre V, Bonnefont-Rousselot D, Marques-Pinheiro A, Erik Berge K, Devillers M, Luc G, Lecerf JM, Tosolini L, Erlich D, Peloso GM, Stitziel N, Nitchké P, Jaïs JP, French Research Network on ADH, Abifadel M, Kathiresan S, Leren TP, Rabès JP, Boileau C, Varret M (2012)
Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation
Hum Mutat, 34 (1), 83-7
DOI 10.1002/humu.22215, PubMed 22949395

Mattingsdal M, Brown AA, Djurovic S, Sønderby IE, Server A, Melle I, Agartz I, Hovig E, Jensen J, Andreassen OA (2012)
Pathway analysis of genetic markers associated with a functional MRI faces paradigm implicates polymorphisms in calcium responsive pathways
Neuroimage, 70, 143-9
DOI 10.1016/j.neuroimage.2012.12.035, PubMed 23274185

Mellerup E, Andreassen O, Bennike B, Dam H, Djurovic S, Hansen T, Melle I, Møller GL, Mors O, Koefoed P (2012)
Connection between genetic and clinical data in bipolar disorder
PLoS One, 7 (9), e44623
DOI 10.1371/journal.pone.0044623, PubMed 23028568

Misceo D, Barøy T, Helle JR, Braaten O, Fannemel M, Frengen E (2012)
1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development
Gene, 507 (1), 85-91
DOI 10.1016/j.gene.2012.07.021, PubMed 22842548

Munthe-Kaas MC, Bertelsen RJ, Torjussen TM, Hjorthaug HS, Undlien DE, Lyle R, Gervin K, Granum B, Mowinckel P, Carlsen KH, Carlsen KC (2012)
Pet keeping and tobacco exposure influence CD14 methylation in childhood
Pediatr Allergy Immunol, 23 (8), 747-54
DOI 10.1111/pai.12021, PubMed 23194293

Møller P, Maehle L, Vabø A, Clark N, Sun P, Narod SA (2012)
Age-specific incidence rates for breast cancer in carriers of BRCA1 mutations from Norway
Clin Genet, 83 (1), 88-91
DOI 10.1111/j.1399-0004.2012.01855.x, PubMed 22320316

Nakasone ES, Askautrud HA, Kees T, Park JH, Plaks V, Ewald AJ, Fein M, Rasch MG, Tan YX, Qiu J, Park J, Sinha P, Bissell MJ, Frengen E, Werb Z, Egeblad M (2012)
Imaging tumor-stroma interactions during chemotherapy reveals contributions of the microenvironment to resistance
Cancer Cell, 21 (4), 488-503
DOI 10.1016/j.ccr.2012.02.017, PubMed 22516258

Nieuwenhuis MH, Kets CM, Murphy-Ryan M, Colas C, Möller P, Hes FJ, Hodgson SV, Olderode-Berends MJ, Aretz S, Heinimann K, Gomez Garcia EB, Douglas F, Spigelman A, Timshel S, Lindor NM, Vasen HF (2012)
Is colorectal surveillance indicated in patients with PTEN mutations?
Colorectal Dis, 14 (9), e562-6
DOI 10.1111/j.1463-1318.2012.03121.x, PubMed 22672595

Nilsen TS, Knudsen GP, Gervin K, Brandt I, Røysamb E, Tambs K, Orstavik R, Lyle R, Reichborn-Kjennerud T, Magnus P, Harris JR (2012)
The Norwegian Twin Registry from a public health perspective: a research update
Twin Res Hum Genet, 16 (1), 285-95
DOI 10.1017/thg.2012.117, PubMed 23186607

Nordang GB, Carpenter D, Viken MK, Kvien TK, Armour JA, Lie BA (2012)
Association analysis of the CCL3L1 copy number locus by paralogue ratio test in Norwegian rheumatoid arthritis patients and healthy controls
Genes Immun, 13 (7), 579-82
DOI 10.1038/gene.2012.30, PubMed 22785612

Omair A, Lie BA, Reikeras O, Brox JI (2012)
An Association Study of Interleukin 18 Receptor Genes (IL18R1 and IL18RAP) in Lumbar Disc Degeneration
Open Orthop J, 6, 164-71
DOI 10.2174/1874325001206010164, PubMed 22550553

Omair A, Lie BA, Reikeras O, Holden M, Brox JI (2012)
Genetic contribution of catechol-O-methyltransferase variants in treatment outcome of low back pain: a prospective genetic association study
BMC Musculoskelet Disord, 13, 76
DOI 10.1186/1471-2474-13-76, PubMed 22612913

Qin B, Budeus B, Cao L, Wu C, Wang Y, Zhang X, Rayner S, Hoffmann D, Lu M, Chen X (2012)
The amino acid substitutions rtP177G and rtF249A in the reverse transcriptase domain of hepatitis B virus polymerase reduce the susceptibility to tenofovir
Antiviral Res, 97 (2), 93-100
DOI 10.1016/j.antiviral.2012.12.007, PubMed 23261845

Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M et al. (2012)
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
Nat Genet, 44 (11), 1243-8
DOI 10.1038/ng.2414, PubMed 23001123

Ronninger M, Seddighzadeh M, Eike MC, Plant D, Daha NA, Skinningsrud B, Worthington J, Kvien TK, Toes RE, Lie BA, Alfredsson L, Padyukov L (2012)
Interaction analysis between HLA-DRB1 shared epitope alleles and MHC class II transactivator CIITA gene with regard to risk of rheumatoid arthritis
PLoS One, 7 (3), e32861
DOI 10.1371/journal.pone.0032861, PubMed 22461888

Rønningen KS, Yap SE, Brandal K, Stormyr A, Lie BA, Rasmussen T, Stray-Pedersen B, Akselsen HE (2012)
HLA-DRB1, -DQA1 and -DQB1 alleles and haplotypes in first-generation Pakistani immigrants in Norway
Scand J Immunol, 75 (4), 426-30
DOI 10.1111/j.1365-3083.2011.02669.x, PubMed 22171671

Schuck PF, De Assis DR, Viegas CM, Pereira TC, Machado JL, Furlanetto CB, Bogo MR, Streck EL, Ferreira GC (2012)
Ethylmalonic acid modulates Na+, K(+)-ATPase activity and mRNA levels in rat cerebral cortex
Synapse, 67 (3), 111-7
DOI 10.1002/syn.21618, PubMed 23161776

Selmer KK, Bryne E, Rødningen OK, Fannemel M (2012)
A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures
Eur J Med Genet, 55 (12), 715-8
DOI 10.1016/j.ejmg.2012.08.005, PubMed 22975012

Skretting G, Iversen N, Myklebust CF, Dahm AE, Sandset PM (2012)
Overexpression of tissue factor pathway inhibitor in CHO-K1 cells results in increased activation of NF-κB and apoptosis mediated by a caspase-3 independent pathway
Mol Biol Rep, 39 (12), 10089-96
DOI 10.1007/s11033-012-1882-7, PubMed 22932941

Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ (2012)
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1
Hum Mol Genet, 22 (4), 696-703
DOI 10.1093/hmg/dds477, PubMed 23161670

Smith MJ, Wallace AJ, Bowers NL, Rustad CF, Woods CG, Leschziner GD, Ferner RE, Evans DG (2012)
Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis
Neurogenetics, 13 (2), 141-5
DOI 10.1007/s10048-012-0319-8, PubMed 22434358

Sorte H, Mørkrid L, Rødningen O, Kulseth MA, Stray-Pedersen A, Matthijs G, Race V, Houge G, Fiskerstrand T, Bjurulf B, Lyle R, Prescott T (2012)
Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes
Eur J Med Genet, 55 (3), 196-202
DOI 10.1016/j.ejmg.2012.01.003, PubMed 22306853

Squadrito ML, Pucci F, Magri L, Moi D, Gilfillan GD, Ranghetti A, Casazza A, Mazzone M, Lyle R, Naldini L, De Palma M (2012)
miR-511-3p modulates genetic programs of tumor-associated macrophages
Cell Rep, 1 (2), 141-54
DOI 10.1016/j.celrep.2011.12.005, PubMed 22832163

Stavik B, Skretting G, Olstad OK, Sletten M, Dehli Vigeland M, Sandset PM, Iversen N (2012)
TFPI alpha and beta regulate mRNAs and microRNAs involved in cancer biology and in the immune system in breast cancer cells
PLoS One, 7 (10), e47184
DOI 10.1371/journal.pone.0047184, PubMed 23071754

Stein JL, Medland SE, Vasquez AA, Hibar DP, Senstad RE, Winkler AM, Toro R, Appel K, Bartecek R, Bergmann Ø, Bernard M, Brown AA, Cannon DM, Chakravarty MM, Christoforou A, Domin M, Grimm O, Hollinshead M, Holmes AJ, Homuth G, Hottenga JJ, Langan C, Lopez LM, Hansell NK, Hwang KS et al. (2012)
Identification of common variants associated with human hippocampal and intracranial volumes
Nat Genet, 44 (5), 552-61
DOI 10.1038/ng.2250, PubMed 22504417

Straub T, Zabel A, Gilfillan GD, Feller C, Becker PB (2012)
Different chromatin interfaces of the Drosophila dosage compensation complex revealed by high-shear ChIP-seq
Genome Res, 23 (3), 473-85
DOI 10.1101/gr.146407.112, PubMed 23233545

Syvertsen MR, Markhus R, Selmer KK, Nakken KO (2012)
[Juvenile myoclonic epilepsy]
Tidsskr Nor Laegeforen, 132 (14), 1610-3
DOI 10.4045/tidsskr.11.1518, PubMed 22875125

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