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Publications (original articles or review articles) published in 2009 from OUS - Department of Medical Genetics

92 publications found

Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MM, Mulder MF, Offerhaus GJ, Prescott TE, Schroor EJ, Verheij JB, Witte M, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC (2009)
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
Nat Genet, 41 (12), 1272-4
DOI 10.1038/ng.484, PubMed 19935664

Andreou D, Saetre P, Lundmark P, Hansen T, Timm S, Melle I, Djurovic S, Andreassen OA, Werge T, Hall H, Agartz I, Terenius L, Jönsson EG (2009)
Tyrosine hydroxylase Val81Met polymorphism: lack of association with schizophrenia
Psychiatr Genet, 19 (5), 273-4
DOI 10.1097/YPG.0b013e32832a4fcd, PubMed 19491717

Andresen PA, Heimdal K, Aaberg K, Eklo K, Ariansen S, Silye A, Fausa O, Aabakken L, Aretz S, Eide TJ, Gedde-Dahl T (2009)
APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations
J Cancer Res Clin Oncol, 135 (10), 1463-70
DOI 10.1007/s00432-009-0594-4, PubMed 19444466

Askautrud HA, Gjernes E, Størvold GL, Lindeberg MM, Thorsen J, Prydz H, Frengen E (2009)
Regulated expression of a transgene introduced on an oriP/EBNA-1 PAC shuttle vector into human cells
BMC Biotechnol, 9, 88
DOI 10.1186/1472-6750-9-88, PubMed 19835613

Aziz NA, Jurgens CK, Landwehrmeyer GB, EHDN Registry Study Group, van Roon-Mom WM, van Ommen GJ, Stijnen T, Roos RA (2009)
Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease
Neurology, 73 (16), 1280-5
DOI 10.1212/WNL.0b013e3181bd1121, PubMed 19776381

Bartkuhn M, Straub T, Herold M, Herrmann M, Rathke C, Saumweber H, Gilfillan GD, Becker PB, Renkawitz R (2009)
Active promoters and insulators are marked by the centrosomal protein 190
EMBO J, 28 (7), 877-88
DOI 10.1038/emboj.2009.34, PubMed 19229299

Bjørnvold M, Munthe-Kaas MC, Egeland T, Joner G, Dahl-Jørgensen K, Njølstad PR, Akselsen HE, Gervin K, Carlsen KC, Carlsen KH, Undlien DE (2009)
A TLR2 polymorphism is associated with type 1 diabetes and allergic asthma
Genes Immun, 10 (2), 181-7
DOI 10.1038/gene.2008.100, PubMed 19148143

Brandal P, Bjerkehagen B, Bruland OS, Skjeldal S, Bogsrud TV, Hall KS (2009)
Synchronous and metachronous skeletal osteosarcomas: the Norwegian Radium Hospital experience
Acta Oncol, 48 (8), 1165-72
DOI 10.3109/02841860903032809, PubMed 19863225

Brandal P, Panagopoulos I, Bjerkehagen B, Heim S (2009)
t(19;22)(q13;q12) Translocation leading to the novel fusion gene EWSR1-ZNF444 in soft tissue myoepithelial carcinoma
Genes Chromosomes Cancer, 48 (12), 1051-6
DOI 10.1002/gcc.20706, PubMed 19760602

Bratland E, Skinningsrud B, Undlien DE, Mozes E, Husebye ES (2009)
T cell responses to steroid cytochrome P450 21-hydroxylase in patients with autoimmune primary adrenal insufficiency
J Clin Endocrinol Metab, 94 (12), 5117-24
DOI 10.1210/jc.2009-1115, PubMed 19890026

Brix TH, Hansen PS, Bennedbak FN, Bonnema SJ, Kyvik KO, Ørstavik KH, Hegedüs L (2009)
X Chromosome inactivation pattern is not associated with interindividual variations in thyroid volume: a study of euthyroid Danish female twins
Twin Res Hum Genet, 12 (5), 502-6
DOI 10.1375/twin.12.5.502, PubMed 19803777

Brix TH, Hansen PS, Knudsen GP, Kringen MK, Kyvik KO, Orstavik KH, Hegedüs L (2009)
No link between X chromosome inactivation pattern and simple goiter in females: evidence from a twin study
Thyroid, 19 (2), 165-9
DOI 10.1089/thy.2008.0380, PubMed 19191747

Cameron J, Holla ØL, Kulseth MA, Leren TP, Berge KE (2009)
Splice-site mutation c.313+1, G>A in intron 3 of the LDL receptor gene results in transcripts with skipping of exon 3 and inclusion of intron 3
Clin Chim Acta, 403 (1-2), 131-5
DOI 10.1016/j.cca.2009.02.001, PubMed 19361455

Cameron J, Ranheim T, Halvorsen B, Kulseth MA, Leren TP, Berge KE (2009)
Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C
Atherosclerosis, 209 (1), 163-6
DOI 10.1016/j.atherosclerosis.2009.08.039, PubMed 19765707

Chandriani S, Frengen E, Cowling VH, Pendergrass SA, Perou CM, Whitfield ML, Cole MD (2009)
A core MYC gene expression signature is prominent in basal-like breast cancer but only partially overlaps the core serum response
PLoS One, 4 (8), e6693
DOI 10.1371/journal.pone.0006693, PubMed 19690609

Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ (2009)
X-linked cataract and Nance-Horan syndrome are allelic disorders
Hum Mol Genet, 18 (14), 2643-55
DOI 10.1093/hmg/ddp206, PubMed 19414485

Dahlback HS, Brandal P, Meling TR, Gorunova L, Scheie D, Heim S (2009)
Genomic aberrations in 80 cases of primary glioblastoma multiforme: Pathogenetic heterogeneity and putative cytogenetic pathways
Genes Chromosomes Cancer, 48 (10), 908-24
DOI 10.1002/gcc.20690, PubMed 19603525

Djurovic S, Le Hellard S, Kähler AK, Jönsson EG, Agartz I, Steen VM, Hall H, Wang AG, Rasmussen HB, Melle I, Werge T, Andreassen OA (2009)
Association of MCTP2 gene variants with schizophrenia in three independent samples of Scandinavian origin (SCOPE)
Psychiatry Res, 168 (3), 256-8
DOI 10.1016/j.psychres.2008.08.007, PubMed 19223264

Elvsåshagen T, Solyga V, Bakke SJ, Heiberg A, Kerty E (2009)
[Neurofibromatosis type 2 and auditory brainstem implantation]
Tidsskr Nor Laegeforen, 129 (15), 1469-73
DOI 10.4045/tidsskr.08.0151, PubMed 19690597

Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM (2009)
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study
Brain, 132 (Pt 6), 1577-88
DOI 10.1093/brain/awp056, PubMed 19339254

Erichsen MM, Løvås K, Skinningsrud B, Wolff AB, Undlien DE, Svartberg J, Fougner KJ, Berg TJ, Bollerslev J, Mella B, Carlson JA, Erlich H, Husebye ES (2009)
Clinical, immunological, and genetic features of autoimmune primary adrenal insufficiency: observations from a Norwegian registry
J Clin Endocrinol Metab, 94 (12), 4882-90
DOI 10.1210/jc.2009-1368, PubMed 19858318

Fry AE, Klingenberg C, Matthes J, Heimdal K, Hennekam RC, Pilz DT (2009)
Connective tissue involvement in two patients with features of cranioectodermal dysplasia
Am J Med Genet A, 149A (10), 2212-5
DOI 10.1002/ajmg.a.33027, PubMed 19760620

Fu B, Sun F, Li B, Yang L, Zeng Y, Sun X, Xu F, Rayner S, Guadalupe M, Gao SJ, Wang L (2009)
Seroprevalence of Kaposi's sarcoma-associated herpesvirus and risk factors in Xinjiang, China
J Med Virol, 81 (8), 1422-31
DOI 10.1002/jmv.21550, PubMed 19551832

Gorunova L, Vult von Steyern F, Storlazzi CT, Bjerkehagen B, Follerås G, Heim S, Mandahl N, Mertens F (2009)
Cytogenetic analysis of 101 giant cell tumors of bone: nonrandom patterns of telomeric associations and other structural aberrations
Genes Chromosomes Cancer, 48 (7), 583-602
DOI 10.1002/gcc.20667, PubMed 19396867

Grindedal EM, Møller P, Eeles R, Stormorken AT, Bowitz-Lothe IM, Landrø SM, Clark N, Kvåle R, Shanley S, Maehle L (2009)
Germ-line mutations in mismatch repair genes associated with prostate cancer
Cancer Epidemiol Biomarkers Prev, 18 (9), 2460-7
DOI 10.1158/1055-9965.EPI-09-0058, PubMed 19723918

Grindedal EM, Renkonen-Sinisalo L, Vasen H, Evans G, Sala P, Blanco I, Gronwald J, Apold J, Eccles DM, Sánchez AA, Sampson J, Järvinen HJ, Bertario L, Crawford GC, Stormorken AT, Maehle L, Moller P (2009)
Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds
J Med Genet, 47 (2), 99-102
DOI 10.1136/jmg.2009.068130, PubMed 19635727

Hagen AI, Tretli S, Maehle L, Apold J, Vedå N, Møller P (2009)
Survival in Norwegian BRCA1 mutation carriers with breast cancer
Hered Cancer Clin Pract, 7 (1), 7
DOI 10.1186/1897-4287-7-7, PubMed 19366445

Hauge H, Fjelland KE, Sioud M, Aasheim HC (2009)
Evidence for the involvement of FAM110C protein in cell spreading and migration
Cell Signal, 21 (12), 1866-73
DOI 10.1016/j.cellsig.2009.08.001, PubMed 19698782

Haugaa KH, Leren TP, Amlie JP (2009)
Genetic testing in specific cardiomyopathies
F1000 Med Rep, 1
DOI 10.3410/M1-52, PubMed 20948728

Holla ØL, Kulseth MA, Berge KE, Leren TP, Ranheim T (2009)
Nonsense-mediated decay of human LDL receptor mRNA
Scand J Clin Lab Invest, 69 (3), 409-17
DOI 10.1080/00365510802707163, PubMed 19148831

Holla ØL, Nakken S, Mattingsdal M, Ranheim T, Berge KE, Defesche JC, Leren TP (2009)
Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses
Mol Genet Metab, 96 (4), 245-52
DOI 10.1016/j.ymgme.2008.12.014, PubMed 19208450

Holla ØL, Strøm TB, Cameron J, Berge KE, Leren TP (2009)
A chimeric LDL receptor containing the cytoplasmic domain of the transferrin receptor is degraded by PCSK9
Mol Genet Metab, 99 (2), 149-56
DOI 10.1016/j.ymgme.2009.09.012, PubMed 19828345

Holst AG, Calloe K, Jespersen T, Cedergreen P, Winkel BG, Jensen HK, Leren TP, Haunso S, Svendsen JH, Tfelt-Hansen J (2009)
A Novel SCN5A Mutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease
Case Rep Med, 2009, 963645
DOI 10.1155/2009/963645, PubMed 19829766

Ingason A, Rujescu D, Cichon S, Sigurdsson E, Sigmundsson T, Pietiläinen OP, Buizer-Voskamp JE, Strengman E, Francks C, Muglia P, Gylfason A, Gustafsson O, Olason PI, Steinberg S, Hansen T, Jakobsen KD, Rasmussen HB, Giegling I, Möller HJ, Hartmann A, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J et al. (2009)
Copy number variations of chromosome 16p13.1 region associated with schizophrenia
Mol Psychiatry, 16 (1), 17-25
DOI 10.1038/mp.2009.101, PubMed 19786961

Jiang Y, Deng F, Rayner S, Wang H, Hu Z (2009)
Evidence of a major role of GP64 in group I alphabaculovirus evolution
Virus Res, 142 (1-2), 85-91
DOI 10.1016/j.virusres.2009.01.015, PubMed 19428740

Joyner AH, J CR, Bloss CS, Bakken TE, Rimol LM, Melle I, Agartz I, Djurovic S, Topol EJ, Schork NJ, Andreassen OA, Dale AM (2009)
A common MECP2 haplotype associates with reduced cortical surface area in humans in two independent populations
Proc Natl Acad Sci U S A, 106 (36), 15483-8
DOI 10.1073/pnas.0901866106, PubMed 19717458

Jönsson EG, Saetre P, Vares M, Andreou D, Larsson K, Timm S, Rasmussen HB, Djurovic S, Melle I, Andreassen OA, Agartz I, Werge T, Hall H, Terenius L (2009)
DTNBP1, NRG1, DAOA, DAO and GRM3 polymorphisms and schizophrenia: an association study
Neuropsychobiology, 59 (3), 142-50
DOI 10.1159/000218076, PubMed 19439994

Karrman K, Forestier E, Heyman M, Andersen MK, Autio K, Blennow E, Borgström G, Ehrencrona H, Golovleva I, Heim S, Heinonen K, Hovland R, Johannsson JH, Kerndrup G, Nordgren A, Palmqvist L, Johansson B, Nordic Society of Pediatric Hematology, Oncology (NOPHO), Swedish Cytogenetic Leukemia Study Group (SCLSG), NOPHO Leukemia Cytogenetic Study Group (NLCSG) (2009)
Clinical and cytogenetic features of a population-based consecutive series of 285 pediatric T-cell acute lymphoblastic leukemias: rare T-cell receptor gene rearrangements are associated with poor outcome
Genes Chromosomes Cancer, 48 (9), 795-805
DOI 10.1002/gcc.20684, PubMed 19530250

Kolsgaard ML, Wangensteen T, Brunborg C, Joner G, Holven KB, Halvorsen B, Aukrust P, Tonstad S (2009)
Elevated visfatin levels in overweight and obese children and adolescents with metabolic syndrome
Scand J Clin Lab Invest, 69 (8), 858-64
DOI 10.3109/00365510903348677, PubMed 19929281

Leren TP, Berge KE (2009)
Comparison of clinical and molecular genetic criteria for diagnosing familial hypercholesterolemia
Clin. Lipidol., 4 (3), 303-310
DOI 10.2217/CLP.09.24

Lundby R, Rand-Hendriksen S, Hald JK, Lilleås FG, Pripp AH, Skaar S, Paus B, Geiran O, Smith HJ (2009)
Dural ectasia in Marfan syndrome: a case control study
AJNR Am J Neuroradiol, 30 (8), 1534-40
DOI 10.3174/ajnr.A1620, PubMed 19461064

Lybaek H, Ørstavik KH, Prescott T, Hovland R, Breilid H, Stansberg C, Steen VM, Houge G (2009)
An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion
Eur J Hum Genet, 17 (7), 904-10
DOI 10.1038/ejhg.2008.261, PubMed 19156171

Mai PL, Chen BE, Tucker K, Friedlander M, Phillips KA, Hogg D, Jewett MA, Bodrogi I, Geczi L, Olah E, Heimdal K, Fosså SD, Nathanson KL, Korde L, Easton DF, Dudakia D, Huddart R, Stratton MR, Bishop DT, Rapley EA, Greene MH (2009)
Younger age-at-diagnosis for familial malignant testicular germ cell tumor
Fam Cancer, 8 (4), 451-6
DOI 10.1007/s10689-009-9264-6, PubMed 19609727

Mai PL, Friedlander M, Tucker K, Phillips KA, Hogg D, Jewett MA, Lohynska R, Daugaard G, Richard S, Bonaïti-Pellié C, Heidenreich A, Albers P, Bodrogi I, Geczi L, Olah E, Daly PA, Guilford P, Fosså SD, Heimdal K, Liubchenko L, Tjulandin SA, Stoll H, Weber W, Easton DF, Dudakia D et al. (2009)
The International Testicular Cancer Linkage Consortium: a clinicopathologic descriptive analysis of 461 familial malignant testicular germ cell tumor kindred
Urol Oncol, 28 (5), 492-9
DOI 10.1016/j.urolonc.2008.10.004, PubMed 19162511

Micci F, Haugom L, Ahlquist T, Abeler VM, Trope CG, Lothe RA, Heim S (2009)
Tumor spreading to the contralateral ovary in bilateral ovarian carcinoma is a late event in clonal evolution
J Oncol, 2010, 646340
DOI 10.1155/2010/646340, PubMed 19759843

Micci F, Panagopoulos I, Haugom L, Andersen HK, Tjønnfjord GE, Beiske K, Heim S (2009)
t(3;21)(q22;q22) leading to truncation of the RYK gene in atypical chronic myeloid leukemia
Cancer Lett, 277 (2), 205-11
DOI 10.1016/j.canlet.2008.12.016, PubMed 19168282

Micci F, Weimer J, Haugom L, Skotheim RI, Grunewald R, Abeler VM, Silins I, Lothe RA, Trope CG, Arnold N, Heim S (2009)
Reverse painting of microdissected chromosome 19 markers in ovarian carcinoma identifies a complex rearrangement map
Genes Chromosomes Cancer, 48 (2), 184-93
DOI 10.1002/gcc.20628, PubMed 18973136

Ming P, Yan J, Rayner S, Meng S, Xu G, Tang Q, Wu J, Luo J, Yang X (2009)
A history estimate and evolutionary analysis of rabies virus variants in China
J Gen Virol, 91 (Pt 3), 759-64
DOI 10.1099/vir.0.016436-0, PubMed 19889927

Misceo D, Fannemel M, Barøy T, Roberto R, Tvedt B, Jaeger T, Bryn V, Strømme P, Frengen E (2009)
SCA27 caused by a chromosome translocation: further delineation of the phenotype
Neurogenetics, 10 (4), 371-4
DOI 10.1007/s10048-009-0197-x, PubMed 19471976

Mitchell AL, Cordell HJ, Soemedi R, Owen K, Skinningsrud B, Wolff AB, Ericksen M, Undlien D, Husebye E, Pearce SH (2009)
Programmed death ligand 1 (PD-L1) gene variants contribute to autoimmune Addison's disease and Graves' disease susceptibility
J Clin Endocrinol Metab, 94 (12), 5139-45
DOI 10.1210/jc.2009-1404, PubMed 19850680

Moldrich RX, Dauphinot L, Laffaire J, Vitalis T, Hérault Y, Beart PM, Rossier J, Vivien D, Gehrig C, Antonarakis SE, Lyle R, Potier MC (2009)
Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres
J Neurosci Res, 87 (14), 3143-52
DOI 10.1002/jnr.22131, PubMed 19472221

Molven A, Søvik O, von der Lippe C, Steine SJ, Njølstad PR, Houge G, Prescott TE (2009)
[Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway]
Tidsskr Nor Laegeforen, 129 (22), 2358-61
DOI 10.4045/tidsskr.09.0267, PubMed 19935936

Mousavi SA, Berge KE, Leren TP (2009)
The unique role of proprotein convertase subtilisin/kexin 9 in cholesterol homeostasis
J Intern Med, 266 (6), 507-19
DOI 10.1111/j.1365-2796.2009.02167.x, PubMed 19930098

Mousavi SA, Fønhus MS, Berg T (2009)
Up-regulation of uPARAP/Endo180 during culture activation of rat hepatic stellate cells and its presence in hepatic stellate cell lines from different species
BMC Cell Biol, 10, 39
DOI 10.1186/1471-2121-10-39, PubMed 19432973

Nakken KE, Nygard S, Haaland TK, Berge KE, Ødegaard A, Labori KJ, Raeder MG (2009)
Gene expression profiles reflect sclerosing cholangitis activity in abcb4 (-/-) mice
Scand J Gastroenterol, 44 (2), 211-8
DOI 10.1080/00365520802400867, PubMed 18785065

Negaard HF, Svennevig K, Kolset SO, Iversen N, Lothe IM, Østenstad B, Sandset PM, Iversen PO (2009)
Alterations in regulators of the extracellular matrix in non-Hodgkin lymphomas
Leuk Lymphoma, 50 (6), 998-1004
DOI 10.1080/10428190902889270, PubMed 19373600

Norum OJ, Bruland ØS, Gorunova L, Berg K (2009)
Photochemical internalization of bleomycin before external-beam radiotherapy improves locoregional control in a human sarcoma model
Int J Radiat Oncol Biol Phys, 75 (3), 878-85
DOI 10.1016/j.ijrobp.2009.04.039, PubMed 19665318

Nourizadeh-Lillabadi R, Lyche JL, Almaas C, Stavik B, Moe SJ, Aleksandersen M, Berg V, Jakobsen KS, Stenseth NC, Skåre JU, Alestrøm P, Ropstad E (2009)
Transcriptional regulation in liver and testis associated with developmental and reproductive effects in male zebrafish exposed to natural mixtures of persistent organic pollutants (POP)
J Toxicol Environ Health A, 72 (3-4), 112-30
DOI 10.1080/15287390802537255, PubMed 19184727

Orstavik KH (2009)
X chromosome inactivation in clinical practice
Hum Genet, 126 (3), 363-73
DOI 10.1007/s00439-009-0670-5, PubMed 19396465

Otnaess MK, Djurovic S, Rimol LM, Kulle B, Kähler AK, Jönsson EG, Agartz I, Sundet K, Hall H, Timm S, Hansen T, Callicott JH, Melle I, Werge T, Andreassen OA (2009)
Evidence for a possible association of neurotrophin receptor (NTRK-3) gene polymorphisms with hippocampal function and schizophrenia
Neurobiol Dis, 34 (3), 518-24
DOI 10.1016/j.nbd.2009.03.011, PubMed 19344762

Pan XL, Wang HY, Fu SH, Hian N, Liu HZ, Rayner S, Hang GD (2009)
[Molecular characterization of full-length genome of Japanese encephalitis virus strain patient's cerebrospinal fluid in China]
Zhonghua Shi Yan He Lin Chuang Bing Du Xue Za Zhi, 23 (1), 26-8
PubMed 19799010

Prescott TE, Rødningen OK, Bjørnstad A, Stray-Pedersen A (2009)
Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection
Clin Dysmorphol, 18 (2), 78-82
DOI 10.1097/MCD.0b013e32831e19cd, PubMed 19057379

Ramagopalan SV, Link J, Byrnes JK, Dyment DA, Giovannoni G, Hintzen RQ, Sundqvist E, Kockum I, Smestad C, Lie BA, Harbo HF, Padyukov L, Alfredsson L, Olsson T, Sadovnick AD, Hillert J, Ebers GC (2009)
HLA-DRB1 and month of birth in multiple sclerosis
Neurology, 73 (24), 2107-11
DOI 10.1212/WNL.0b013e3181c679f3, PubMed 20018638

Rand-Hendriksen S, Lundby R, Tjeldhorn L, Andersen K, Offstad J, Semb SO, Smith HJ, Paus B, Geiran O (2009)
Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome
Eur J Hum Genet, 17 (10), 1222-30
DOI 10.1038/ejhg.2009.30, PubMed 19293838

Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC et al. (2009)
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
Nat Genet, 41 (7), 829-32
DOI 10.1038/ng.373, PubMed 19525956

Rimol LM, Agartz I, Djurovic S, Brown AA, Roddey JC, Kähler AK, Mattingsdal M, Athanasiu L, Joyner AH, Schork NJ, Halgren E, Sundet K, Melle I, Dale AM, Andreassen OA, Alzheimer's Disease Neuroimaging Initiative (2009)
Sex-dependent association of common variants of microcephaly genes with brain structure
Proc Natl Acad Sci U S A, 107 (1), 384-8
DOI 10.1073/pnas.0908454107, PubMed 20080800

Roslev P, Iversen L, Sønderbo HL, Iversen N, Bastholm S (2009)
Uptake and persistence of human associated Enterococcus in the mussel Mytilus edulis: relevance for faecal pollution source tracking
J Appl Microbiol, 107 (3), 944-53
DOI 10.1111/j.1365-2672.2009.04272.x, PubMed 19486428

Roxrud I, Raiborg C, Gilfillan GD, Strømme P, Stenmark H (2009)
Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease
Exp Cell Res, 315 (17), 3014-27
DOI 10.1016/j.yexcr.2009.07.012, PubMed 19619532

Rønning P, Andresen PA, Hald JK, Heimdal K, Scheie D, Schreiner T, Helseth E (2009)
Low frequency of VHL germline mutations in Norwegian patients presenting with isolated central nervous system hemangioblastomas--a population-based study
Acta Neurol Scand, 122 (2), 124-31
DOI 10.1111/j.1600-0404.2009.01274.x, PubMed 19814753

Selmer KK, Brandal K, Olstad OK, Birkenes B, Undlien DE, Egeland T (2009)
Genome-wide linkage analysis with clustered SNP markers
J Biomol Screen, 14 (1), 92-6
DOI 10.1177/1087057108327327, PubMed 19171925

Selmer KK, Eriksson AS, Brandal K, Egeland T, Tallaksen C, Undlien DE (2009)
Parental SCN1A mutation mosaicism in familial Dravet syndrome
Clin Genet, 76 (4), 398-403
DOI 10.1111/j.1399-0004.2009.01208.x, PubMed 19673951

Selmer KK, Grøndahl J, Riise R, Brandal K, Braaten O, Bragadottir R, Undlien DE (2009)
Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene
Acta Ophthalmol, 88 (3), 323-8
DOI 10.1111/j.1755-3768.2008.01465.x, PubMed 19183411

Selmer KK, Lund C, Brandal K, Undlien DE, Brodtkorb E (2009)
SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features
Epilepsy Behav, 16 (3), 555-7
DOI 10.1016/j.yebeh.2009.08.021, PubMed 19782004

Shaposhnikov S, Frengen E, Collins AR (2009)
Increasing the resolution of the comet assay using fluorescent in situ hybridization--a review
Mutagenesis, 24 (5), 383-9
DOI 10.1093/mutage/gep021, PubMed 19535362

Skinningsrud B, Husebye ES, Gilfillan GD, Frengen E, Erichsen A, Gervin K, Ormerod E, Egeland T, Undlien DE (2009)
X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene
J Clin Endocrinol Metab, 94 (10), 4086-93
DOI 10.1210/jc.2009-0923, PubMed 19773398

Skinningsrud B, Lie BA, Husebye ES, Kvien TK, Førre Ø, Flatø B, Stormyr A, Joner G, Njølstad PR, Egeland T, Undlien DE (2009)
A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis
Ann Rheum Dis, 69 (8), 1471-4
DOI 10.1136/ard.2009.114934, PubMed 19734133

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