Publications

Publications published since 2005 or in press from OUS - Department of Medical Genetics

509 publications found

Publications in press

1. Athanasiu L, Brown AA, Birkenaes AB, Mattingsdal M, Agartz I, Melle I, Steen VM, Andreassen OA, Djurovic S
   Genome-wide association study identifies genetic loci associated with body mass index and high density lipoprotein-cholesterol levels during psychopharmacological treatment - a cross-sectional naturalistic study
   Psychiatry Res (in press)
   PubMed 22417934
2. 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
   CIITA gene variants are associated with rheumatoid arthritis in Scandinavian populations
   Genes Immun (in press)
   PubMed 22513452
3. Gjerde LC, Czajkowski N, Røysamb E, Orstavik RE, Knudsen GP, Ostby K, Torgersen S, Myers J, Kendler KS, Reichborn-Kjennerud T
   The heritability of avoidant and dependent personality disorder assessed by personal interview and questionnaire
   Acta Psychiatr Scand (in press)
   PubMed 22486635
4. Hansen JS, Nygaard UC, Lyle R, Lovik M
   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), 261-275 (in press)
   PubMed 22398405
5. Jönsson EG, Saetre P, Nyholm H, Djurovic S, Melle I, Andreassen OA, Skjødt C, Thygesen JH, Werge T, Hall H, Agartz I, Terenius L
   Lack of association between the regulator of G-protein signaling 4 (RGS4) rs951436 polymorphism and schizophrenia
   Psychiatr Genet (in press)
   PubMed 22157635
6. Larsen MK, Berge KE, Leren TP, Nissen PH, Hansen J, Kristensen IB, Banner J, Jensen HK
   Postmortem genetic testing of the ryanodine receptor 2 (RYR2) gene in a cohort of sudden unexplained death cases
   Int J Legal Med (in press)
   PubMed 22222782
7. Larsen MK, Nissen PH, Berge KE, Leren TP, Kristensen IB, Jensen HK, Banner J
   Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy
   Forensic Sci Int (in press)
   PubMed 22177269
8. Leidenroth A, Sorte HS, Gilfillan G, Ehrlich M, Lyle R, Hewitt JE
   Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis
   Eur J Hum Genet (in press)
   PubMed 22378277
9. Lindholm Carlstrom E, Saetre P, Rosengren A, Thygesen JH, Djurovic S, Melle I, Andreassen OA, Werge T, Agartz I, Hall H, Terenius L, Jönsson EG
   Association between a genetic variant in the serotonin transporter gene (SLC6A4) and suicidal behavior in patients with schizophrenia
   Behav Brain Funct, 8 (1), 24 (in press)
   PubMed 22594806
10. Møller P, Maehle L, Vabø A, Clark N, Sun P, Narod S
    Age-specific incidence rates for breast cancer in carriers of BRCA1 mutations from Norway
    Clin Genet (in press)
    PubMed 22320316
11. Rietschel M, Mattheisen M, Degenhardt F, GROUP Investigators, Genetic Risk and Outcome in Psychosis (GROUP Investigators), Kahn RS, Linszen DH, Os JV, Wiersma D, Bruggeman R, Cahn W, de Haan L, Krabbendam L, Myin-Germeys I, Mühleisen TW, Kirsch P, Esslinger C, Herms S, Demontis D, Steffens M, Strohmaier J, Haenisch B, Breuer R, Czerski PM, Giegling I et al.
    Association between genetic variation in a region on chromosome 11 and schizophrenia in large samples from Europe
    Mol Psychiatry (in press)
    PubMed 21747397
12. Vassos E, Steinberg S, Cichon S, Breen G, Sigurdsson E, Andreassen OA, Djurovic S, Morken G, Grigoroiu-Serbanescu M, Diaconu CC, Czerski PM, Hauser J, Babadjanova G, Abramova LI, Mühleisen TW, Nöthen MM, Rietschel M, McGuffin P, Clair DS, Gustafsson O, Melle I, Pietiläinen OP, Ruggeri M, Tosato S, Werge T et al.
    Replication Study and Meta-Analysis in European Samples Supports Association of the 3p21.1 Locus with Bipolar Disorder
    Biol Psychiatry (in press)
    PubMed 22560537
13. Aamot HV, Blomfeldt A, Skråmm I, Müller F, Monecke S
    Molecular characterisation of methicillin-sensitive Staphylococcus aureus from deep surgical site infections in orthopaedic patients
    Eur J Clin Microbiol Infect Dis (in press)
    PubMed 22258425

Publications 2012

1. Akre H, Øverland B, Åsten P, Skogedal N, Heimdal K (2012)
   Obstructive sleep apnea in Treacher Collins syndrome
   Eur Arch Otorhinolaryngol, 269 (1), 331-7
   PubMed 21626120
2. 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
   PubMed 22343285
3. 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
   PubMed 22444669
4. 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
   PubMed 22323440
5. 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
   PubMed 22190451
6. 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
   PubMed 22384057
7. Fagan M, Mæhlen M, Lindbæk M, Berild D (2012)
   Antibiotic prescribing in nursing homes in an area with low prevalence of antibiotic resistance: compliance with national guidelines
   Scand J Prim Health Care, 30 (1), 10-5
   PubMed 22188479
8. 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
   PubMed 22305530
9. 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
   PubMed 22529055
10. 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
    PubMed 22291603
11. Håvik B, Degenhardt FA, Johansson S, Fernandes CP, Hinney A, Scherag A, Lybæk H, Djurovic S, Christoforou A, Ersland KM, Giddaluru S, O'Donovan MC, Owen MJ, Craddock N, Mühleisen TW, Mattheisen M, Schimmelmann BG, Renner T, Warnke A, Herpertz-Dahlmann B, Sinzig J, Albayrak O, Rietschel M, Nöthen MM, Bramham CR et al. (2012)
    DCLK1 Variants Are Associated across Schizophrenia and Attention Deficit/Hyperactivity Disorder
    PLoS One, 7 (4), e35424
    PubMed 22539971
12. Knappskog S, Gansmo LB, Romundstad P, Bjørnslett M, Trovik J, Sommerfelt-Pettersen J, Løkkevik E, for the 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
    PubMed 22558411
13. Lu L, Cancel-Tassin G, Valeri A, Cussenot O, Lange EM, Cooney KA, Farnham JM, Camp NJ, Cannon-Albright LA, Tammela TL, Schleutker J, Hoegel J, Herkommer K, Maier C, Vogel W, Wiklund F, Emanuelsson M, Grönberg H, Wiley KE, Isaacs SD, Walsh PC, Helfand BT, Kan D, Catalona WJ, Stanford JL et al. (2012)
    Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG
    Prostate, 72 (4), 410-26
    PubMed 21748754
14. 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
    PubMed 22240828
15. Mengel-From J, Thinggaard M, Christiansen L, Vaupel JW, Orstavik KH, Christensen K (2012)
    Skewed X inactivation and survival: a 13-year follow-up study of elderly twins and singletons
    Eur J Hum Genet, 20 (3), 361-4
    PubMed 22146940
16. 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
    PubMed 22516258
17. Ostern R, Fagerheim T, Orstavik K, Holmøy T, Heiberg A, Lund-Petersen I, Strom TM, Nilssen O, Dahl A (2012)
    Hereditary motor neuron disease in a large Norwegian family with a >H46R> substitution in the superoxide dismutase 1 gene
    Neuromuscul Disord, 22 (6), 511-21
    PubMed 22475618
18. Prescott TE, Smith MJ, Evans DG (2012)
    Comment on the article >Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri> by van den Munckhof et al
    Neurogenetics, 13 (1), 103-4
    PubMed 22203059
19. 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
    PubMed 22461888
20. 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
    PubMed 22171671
21. Selmer KK, Gilfillan GD, Strømme P, Lyle R, Hughes T, Hjorthaug HS, Brandal K, Nakken S, Misceo D, Egeland T, Munthe LA, Braekken SK, Undlien DE (2012)
    A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions
    Eur J Hum Genet, 20 (1), 58-63
    PubMed 21712855
22. 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
    PubMed 22306853
23. Stein JL, Medland SE, Vasquez AA, Hibar DP, Senstad RE, Winkler AM, Toro R, Appel K, Bartecek R, Bergmann O, 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), 552-561
    PubMed 22504417
24. Torjussen TM, Lødrup Carlsen KC, Munthe-Kaas MC, Mowinckel P, Carlsen KH, Helms PJ, Gerritsen J, Whyte MK, Lenney W, Undlien DE, Shianna KV, Zhu G, Pillai SG (2012)
    Alpha-nicotinic acetylcholine receptor and tobacco smoke exposure: effects on bronchial hyperresponsiveness in children
    Pediatr Allergy Immunol, 23 (1), 40-9
    PubMed 22017462
25. Tveten K, Holla ØL, Cameron J, Strøm TB, Berge KE, Laerdahl JK, Leren TP (2012)
    Interaction between the ligand-binding domain of the LDL receptor and the C-terminal domain of PCSK9 is required for PCSK9 to remain bound to the LDL receptor during endosomal acidification
    Hum Mol Genet, 21 (6), 1402-9
    PubMed 22156580
26. Tveten K, Strøm TB, Cameron J, Holla ØL, Berge KE, Leren TP (2012)
    Characterization of a naturally occurring degradation product of the LDL receptor
    Mol Genet Metab, 105 (1), 149-54
    PubMed 22078455
27. Undlien DE (2012)
    [In Process Citation]
    Tidsskr Nor Laegeforen, 132 (3), 264
    PubMed 22314723
28. Aas M, Djurovic S, Athanasiu L, Steen NE, Agartz I, Lorentzen S, Sundet K, Andreassen OA, Melle I (2012)
    Serotonin transporter gene polymorphism, childhood trauma, and cognition in patients with psychotic disorders
    Schizophr Bull, 38 (1), 15-22
    PubMed 21908796

Publications 2011

1. Agartz I, Brown AA, Rimol LM, Hartberg CB, Dale AM, Melle I, Djurovic S, Andreassen OA (2011)
   Common sequence variants in the major histocompatibility complex region associate with cerebral ventricular size in schizophrenia
   Biol Psychiatry, 70 (7), 696-8
   PubMed 21514568
2. Athanasiu L, Mattingsdal M, Melle I, Inderhaug E, Lien T, Agartz I, Lorentzen S, Morken G, Andreassen OA, Djurovic S (2011)
   Intron 12 in NTRK3 is associated with bipolar disorder
   Psychiatry Res, 185 (3), 358-62
   PubMed 20554328
3. Bakken TE, Bloss CS, Roddey JC, Joyner AH, Rimol LM, Djurovic S, Melle I, Sundet K, Agartz I, Andreassen OA, Dale AM, Schork NJ (2011)
   Association of genetic variants on 15q12 with cortical thickness and cognition in schizophrenia
   Arch Gen Psychiatry, 68 (8), 781-90
   PubMed 21810643
4. Berg V, Lyche JL, Karlsson C, Stavik B, Nourizadeh-Lillabadi R, Hårdnes N, Skaare JU, Alestrøm P, Lie E, Ropstad E (2011)
   Accumulation and effects of natural mixtures of persistent organic pollutants (POP) in Zebrafish after two generations of exposure
   J Toxicol Environ Health A, 74 (7-9), 407-23
   PubMed 21391088
5. Cichon S, Muehleisen TW, Degenhardt FA, Mattheisen M, Miro X, Strohmaier J, Steffens M, Meesters C, Herms S, Weingarten M, Priebe L, Haenisch B, Alexander M, Vollmer J, Breuer R, Schmal C, Tessmann P, Moebus S, Wichmann HE, Schreiber S, Muller-Myhsok B, Lucae S, Jamain S, Leboyer M, Bellivier F et al. (2011)
   Genome-wide Association Study Identifies Genetic Variation in Neurocan as a Susceptibility Factor for Bipolar Disorder (vol 88, pg 372, 2011)
   Am. J. Hum. Genet., 88 (3), 396
6. Cichon S, Mühleisen TW, Degenhardt FA, Mattheisen M, Miró X, Strohmaier J, Steffens M, Meesters C, Herms S, Weingarten M, Priebe L, Haenisch B, Alexander M, Vollmer J, Breuer R, Schmäl C, Tessmann P, Moebus S, Wichmann HE, Schreiber S, Müller-Myhsok B, Lucae S, Jamain S, Leboyer M, Bellivier F et al. (2011)
   Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder
   Am J Hum Genet, 88 (3), 372-81
   PubMed 21353194
7. Finsen AV, Lunde IG, Sjaastad I, Østli EK, Lyngra M, Jarstadmarken HO, Hasic A, Nygård S, Wilcox-Adelman SA, Goetinck PF, Lyberg T, Skrbic B, Florholmen G, Tønnessen T, Louch WE, Djurovic S, Carlson CR, Christensen G (2011)
   Syndecan-4 is essential for development of concentric myocardial hypertrophy via stretch-induced activation of the calcineurin-NFAT pathway
   PLoS One, 6 (12), e28302
   PubMed 22164265
8. Frich JC, Heiberg A (2011)
   [Dementia among younger persons and Huntington disease]
   Tidsskr Nor Laegeforen, 131 (17), 1639; author reply 1639
   PubMed 21901032
9. Gervin K, Hammerø M, Akselsen HE, Moe R, Nygård H, Brandt I, Gjessing HK, Harris JR, Undlien DE, Lyle R (2011)
   Extensive variation and low heritability of DNA methylation identified in a twin study
   Genome Res, 21 (11), 1813-21
   PubMed 21948560
10. Gjone H, Diseth TH, Fausa O, Nøvik TS, Heiberg A (2011)
    Familial adenomatous polyposis: mental health, psychosocial functioning and reactions to genetic risk in adolescents
    Clin Genet, 79 (1), 35-43
    PubMed 21143468
11. Hansen T, Ingason A, Djurovic S, Melle I, Fenger M, Gustafsson O, Jakobsen KD, Rasmussen HB, Tosato S, Rietschel M, Frank J, Owen M, Bonetto C, Suvisaari J, Thygesen JH, Pétursson H, Lönnqvist J, Sigurdsson E, Giegling I, Craddock N, O'Donovan MC, Ruggeri M, Cichon S, Ophoff RA, Pietiläinen O et al. (2011)
    At-risk variant in TCF7L2 for type II diabetes increases risk of schizophrenia
    Biol Psychiatry, 70 (1), 59-63
    PubMed 21414605
12. Holen HL, Zernichow L, Fjelland KE, Evenroed IM, Prydz K, Tveit H, Aasheim HC (2011)
    Ephrin-B3 binds to a sulfated cell-surface receptor
    Biochem J, 433 (1), 215-23
    PubMed 20925654
13. Holen HL, Zernichow L, Fjelland KE, Evenroed IM, Tveit H, Aasheim HC (2011)
    Ephrin-B3 binds specifically to B lymphocytes in blood and induces migration
    Scand J Immunol, 74 (2), 144-54
    PubMed 21447033
14. Holla ØL, Cameron J, Tveten K, Strøm TB, Berge KE, Laerdahl JK, Leren TP (2011)
    Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors
    J Lipid Res, 52 (10), 1787-94
    PubMed 21771976
15. Holla ØL, Laerdahl JK, Strøm TB, Tveten K, Cameron J, Berge KE, Leren TP (2011)
    Removal of acidic residues of the prodomain of PCSK9 increases its activity towards the LDL receptor
    Biochem Biophys Res Commun, 406 (2), 234-8
    PubMed 21324305
16. Holtze M, Saetre P, Erhardt S, Schwieler L, Werge T, Hansen T, Nielsen J, Djurovic S, Melle I, Andreassen OA, Hall H, Terenius L, Agartz I, Engberg G, Jönsson EG, Schalling M (2011)
    Kynurenine 3-monooxygenase (KMO) polymorphisms in schizophrenia: an association study
    Schizophr Res, 127 (1-3), 270-2
    PubMed 21030213
17. Ingason A, Kirov G, Giegling I, Hansen T, Isles AR, Jakobsen KD, Kristinsson KT, le Roux L, Gustafsson O, Craddock N, Möller HJ, McQuillin A, Muglia P, Cichon S, Rietschel M, Ophoff RA, Djurovic S, Andreassen OA, Pietiläinen OP, Peltonen L, Dempster E, Collier DA, St Clair D, Rasmussen HB, Glenthøj BY et al. (2011)
    Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness
    Am J Psychiatry, 168 (4), 408-17
    PubMed 21324950
18. 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. (2011)
    Copy number variations of chromosome 16p13.1 region associated with schizophrenia
    Mol Psychiatry, 16 (1), 17-25
    PubMed 19786961
19. Knappskog S, Bjørnslett M, Myklebust LM, Huijts PE, Vreeswijk MP, Edvardsen H, Guo Y, Zhang X, Yang M, Ylisaukko-Oja SK, Alhopuro P, Arola J, Tollenaar RA, van Asperen CJ, Seynaeve C, Staalesen V, Chrisanthar R, Løkkevik E, Salvesen HB, Evans DG, Newman WG, Lin D, Aaltonen LA, Børresen-Dale AL, Tell GS et al. (2011)
    The MDM2 promoter SNP285C/309G haplotype diminishes Sp1 transcription factor binding and reduces risk for breast and ovarian cancer in Caucasians
    Cancer Cell, 19 (2), 273-82
    PubMed 21316605
20. Koefoed P, Andreassen OA, Bennike B, Dam H, Djurovic S, Hansen T, Jorgensen MB, Kessing LV, Melle I, Møller GL, Mors O, Werge T, Mellerup E (2011)
    Combinations of SNPs related to signal transduction in bipolar disorder
    PLoS One, 6 (8), e23812
    PubMed 21897858
21. Kohonen-Corish MR, Macrae F, Genuardi M, Aretz S, Bapat B, Bernstein IT, Burn J, Cotton RG, den Dunnen JT, Frebourg T, Greenblatt MS, Hofstra R, Holinski-Feder E, Lappalainen I, Lindblom A, Maglott D, Møller P, Morreau H, Möslein G, Sijmons R, Spurdle AB, Tavtigian S, Tops CM, Weber TK, de Wind N et al. (2011)
    Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010
    Hum Mutat, 32 (4), 491-4
    PubMed 21387463
22. Kostovski E, Dahm AE, Iversen N, Hjeltnes N, Østerud B, Sandset PM, Iversen PO (2011)
    Melatonin stimulates release of tissue factor pathway inhibitor from the vascular endothelium
    Blood Coagul Fibrinolysis, 22 (4), 254-9
    PubMed 21297449
23. Kulseth MA, Lyle R, Rødningen OK, Sorte H, Prescott T (2011)
    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
    PubMed 21044704
24. Leren TP, Berge KE (2011)
    Subjects with molecularly defined familial hypercholesterolemia or familial defective apoB-100 are not being adequately treated
    PLoS One, 6 (2), e16721
    PubMed 21364743
25. 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 (2011)
    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
    PubMed 21179112
26. Misceo D, Rødningen OK, Barøy T, Sorte H, Mellembakken JR, Strømme P, Fannemel M, Frengen E (2011)
    A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism
    Am J Med Genet A, 155A (2), 403-8
    PubMed 21271662
27. 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. (2011)
    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
    PubMed 20840664
28. Mousavi SA, Berge KE, Berg T, Leren TP (2011)
    Affinity and kinetics of proprotein convertase subtilisin/kexin type 9 binding to low-density lipoprotein receptors on HepG2 cells
    FEBS J, 278 (16), 2938-50
    PubMed 21692990
29. Myrset AH, Fjerdingstad HB, Bendiksen R, Arbo BE, Bjerke RM, Johansen JH, Kulseth MA, Skurtveit R (2011)
    Design and characterization of targeted ultrasound microbubbles for diagnostic use
    Ultrasound Med Biol, 37 (1), 136-50
    PubMed 21144962
30. Olsen L, Hansen T, Djurovic S, Haastrup E, Albrecthsen A, Hoeffding LK, Secher A, Gustafsson O, Jakobsen KD, Nielsen FC, Ullum H, Morken G, Agartz I, Melle I, Gether U, Andreassen OA, Werge T (2011)
    Copy number variations in affective disorders and meta-analysis
    Psychiatr Genet, 21 (6), 319-22
    PubMed 21451435
31. Ramm-Pettersen A, Selmer KK, Nakken KO (2011)
    [Glucose transporter protein type 1 (GLUT-1) deficiency syndrome]
    Tidsskr Nor Laegeforen, 131 (8), 828-31
    PubMed 21556087
32. Ratnamala U, Lyle R, Rawal R, Singh R, Vishnupriya S, Himabindu P, Rao V, Aggarwal S, Paluru P, Bartoloni L, Young TL, Paoloni-Giacobino A, Morris MA, Nath SK, Antonarakis SE, Radhakrishna U (2011)
    Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing
    Invest Ophthalmol Vis Sci, 52 (9), 6814-9
    PubMed 21357393
33. Ravn K, Roende G, Duno M, Fuglsang K, Eiklid KL, Tümer Z, Nielsen JB, Skjeldal OH (2011)
    Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations
    Orphanet J Rare Dis, 6, 58
    PubMed 21878110
34. Ripke S, Sanders AR, Kendler KS, Levinson DF, Sklar P, Holmans PA, Lin DY, Duan J, Ophoff RA, Andreassen OA, Scolnick E, Cichon S, St Clair D, Corvin A, Gurling H, Werge T, Rujescu D, Blackwood DH, Pato CN, Malhotra AK, Purcell S, Dudbridge F, Neale BM, Rossin L, Visscher PM et al. (2011)
    Genome-wide association study identifies five new schizophrenia loci
    Nat Genet, 43 (10), 969-76
    PubMed 21926974
35. Sarvari SI, Haugaa KH, Anfinsen OG, Leren TP, Smiseth OA, Kongsgaard E, Amlie JP, Edvardsen T (2011)
    Right ventricular mechanical dispersion is related to malignant arrhythmias: a study of patients with arrhythmogenic right ventricular cardiomyopathy and subclinical right ventricular dysfunction
    Eur Heart J, 32 (9), 1089-96
    PubMed 21406439
36. Sheng Y, Previti C (2011)
    Genomic features and computational identification of human microRNAs under long-range developmental regulation
    BMC Genomics, 12, 270
    PubMed 21619633
37. 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 (2011)
    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
    PubMed 21070882
38. Skinningsrud B, Lie BA, Lavant E, Carlson JA, Erlich H, Akselsen HE, Gervin K, Wolff AB, Erichsen MM, Løvås K, Husebye ES, Undlien DE (2011)
    Multiple loci in the HLA complex are associated with Addison's disease
    J Clin Endocrinol Metab, 96 (10), E1703-8
    PubMed 21816777
39. Sklar P, Ripke S, Scott LJ, Andreassen OA, Cichon S, Craddock N, Edenberg HJ, Nurnberger JI, Rietschel M, Blackwood D, Corvin A, Flickinger M, Guan W, Mattingsdal M, McQuillin A, Kwan P, Wienker TF, Daly M, Dudbridge F, Holmans PA, Lin D, Burmeister M, Greenwood TA, Hamshere ML, Muglia P et al. (2011)
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4
    Nat Genet, 43 (10), 977-83
    PubMed 21926972
40. Smith MJ, Kulkarni A, Rustad C, Bowers NL, Wallace AJ, Holder SE, Heiberg A, Ramsden RT, Evans DG (2011)
    Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis
    Am J Med Genet A, 158A (1), 215-219
    PubMed 22105938
41. Stavik B, Skretting G, Aasheim HC, Tinholt M, Zernichow L, Sletten M, Sandset PM, Iversen N (2011)
    Downregulation of TFPI in breast cancer cells induces tyrosine phosphorylation signaling and increases metastatic growth by stimulating cell motility
    BMC Cancer, 11, 357
    PubMed 21849050
42. Stax MJ, Naarding MA, Tanck MW, Lindquist S, Hernell O, Lyle R, Brandtzaeg P, Eggesbø M, Pollakis G, Paxton WA (2011)
    Binding of human milk to pathogen receptor DC-SIGN varies with bile salt-stimulated lipase (BSSL) gene polymorphism
    PLoS One, 6 (2), e17316
    PubMed 21386960
43. Steinberg S, de Jong S, Irish Schizophrenia Genomics Consortium, Andreassen OA, Werge T, Børglum AD, Mors O, Mortensen PB, Gustafsson O, Costas J, Pietiläinen OP, Demontis D, Papiol S, Huttenlocher J, Mattheisen M, Breuer R, Vassos E, Giegling I, Fraser G, Walker N, Tuulio-Henriksson A, Suvisaari J, Lönnqvist J, Paunio T, Agartz I et al. (2011)
    Common variants at VRK2 and TCF4 conferring risk of schizophrenia
    Hum Mol Genet, 20 (20), 4076-81
    PubMed 21791550
44. 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. (2011)
    Expanding the range of ZNF804A variants conferring risk of psychosis
    Mol Psychiatry, 16 (1), 59-66
    PubMed 20048749
45. Stene LC, Rønningen KS, Undlien DE, Joner G (2011)
    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
    PubMed 21352425
46. Strøm EH, Sund S, Reier-Nilsen M, Dørje C, Leren TP (2011)
    Lecithin: Cholesterol Acyltransferase (LCAT) Deficiency: renal lesions with early graft recurrence
    Ultrastruct Pathol, 35 (3), 139-45
    PubMed 21323422
47. Strøm TB, Tveten K, Holla ØL, Cameron J, Berge KE, Leren TP (2011)
    Characterization of residues in the cytoplasmic domain of the LDL receptor required for exit from the endoplasmic reticulum
    Biochem Biophys Res Commun, 415 (4), 642-5
    PubMed 22079632
48. Strøm TB, Tveten K, Holla ØL, Cameron J, Berge KE, Leren TP (2011)
    The cytoplasmic domain is not involved in directing Class 5 mutant LDL receptors to lysosomal degradation
    Biochem Biophys Res Commun, 408 (4), 642-6
    PubMed 21531209
49. Tesli M, Koefoed P, Athanasiu L, Mattingsdal M, Gustafsson O, Agartz I, Rimol LM, Brown A, Wirgenes KV, Smorr LL, Kähler AK, Werge T, Mors O, Mellerup E, Jönsson EG, Melle I, Morken G, Djurovic S, Andreassen OA (2011)
    Association analysis of ANK3 gene variants in nordic bipolar disorder and schizophrenia case-control samples
    Am J Med Genet B Neuropsychiatr Genet, 156B (8), 969-74
    PubMed 21972176
50. Toleikyte I, Retterstøl K, Leren TP, Iversen PO (2011)
    Pregnancy outcomes in familial hypercholesterolemia: a registry-based study
    Circulation, 124 (15), 1606-14
    PubMed 21911783
51. Van Schijndel JE, Van Zweeden M, Van Loo KM, Djurovic S, Andreassen OA, Hansen T, Werge T, Nyegaard M, Sørensen KM, Nordentoft M, Mortensen PB, Mors O, Børglum AD, Del-Favero J, Norrback KF, Adolfsson R, De Hert M, Claes S, Cichon S, Rietschel M, Nöthen MM, Kallunki P, Pedersen JT, Martens GJ (2011)
    Dual association of a TRKA polymorphism with schizophrenia
    Psychiatr Genet, 21 (3), 125-31
    PubMed 21317683
52. von der Lippe C, Rustad C, Heimdal K, Rødningen OK (2011)
    15q11.2 microdeletion - seven new patients with delayed development and/or behavioural problems
    Eur J Med Genet, 54 (3), 357-60
    PubMed 21187176
53. Wangensteen T, Akselsen H, Holmen J, Undlien D, Retterstøl L (2011)
    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
    PubMed 20885390
54. Warsame AA, Aasheim HC, Nustad K, Trøen G, Tierens A, Wang V, Randen U, Dong HP, Heim S, Brech A, Delabie J (2011)
    Splenic marginal zone lymphoma with VH1-02 gene rearrangement expresses poly- and self-reactive antibodies with similar reactivity
    Blood, 118 (12), 3331-9
    PubMed 21725051

Publications 2010

1. 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
   PubMed 20637093
2. 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
   PubMed 20185149
3. 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
   PubMed 20382277
4. Barøy T, Sørensen K, Lindeberg MM, Frengen E (2010)
   shRNA expression constructs designed directly from siRNA oligonucleotide sequences
   Mol Biotechnol, 45 (2), 116-20
   PubMed 20119685
5. 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
   PubMed 20581245
6. 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
   PubMed 20800056
7. 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), 1741-1743
   PubMed 20608899
8. Cameron J, Ranheim T, Halvorsen B, Kulseth MA, Leren TP, Berge KE (2010)
   Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C
   Atherosclerosis, 209 (1), 163-6
   PubMed 19765707
9. 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
   PubMed 20333727
10. 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
    PubMed 20451256
11. Edén U, Riise R, Tornqvist K (2010)
    Corneal involvement in congenital aniridia
    Cornea, 29 (10), 1096-102
    PubMed 20567200
12. 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
    PubMed 20505157
13. 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 (2010)
    Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds
    J Med Genet, 47 (2), 99-102
    PubMed 19635727
14. 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
    PubMed 20855658
15. 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
    PubMed 20106799
16. Hjortshøj TD, Grønskov K, Philp AR, Nishimura DY, Riise R, Sheffield VC, Rosenberg T, Brøndum-Nielsen K (2010)
    Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes
    Hum Mutat, 31 (4), 429-36
    PubMed 20120035
17. 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
    PubMed 20160140
18. Holla ØL, Strøm TB, Cameron J, Berge KE, Leren TP (2010)
    A chimeric LDL receptor containing the cytoplasmic domain of the transferrin receptor is degraded by PCSK9
    Mol Genet Metab, 99 (2), 149-56
    PubMed 19828345
19. 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
    PubMed 20071346
20. 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
    PubMed 20703241
21. 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
    PubMed 19350560
22. Le Hellard S, Mühleisen TW, Djurovic S, Fernø J, Ouriaghi Z, Mattheisen M, Vasilescu C, Raeder MB, Hansen T, Strohmaier J, Georgi A, Brockschmidt FF, Melle I, Nenadic I, Sauer H, Rietschel M, Nöthen MM, Werge T, Andreassen OA, Cichon S, Steen VM (2010)
    Polymorphisms in SREBF1 and SREBF2, two antipsychotic-activated transcription factors controlling cellular lipogenesis, are associated with schizophrenia in German and Scandinavian samples
    Mol Psychiatry, 15 (5), 463-72
    PubMed 18936756
23. 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
    PubMed 20125202
24. 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
    PubMed 20186429
25. 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
    PubMed 20616707
26. 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
    PubMed 20526952
27. 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. (2010)
    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
    PubMed 19162511
28. Martinsson K, Skogh T, Mousavi SA, Berg T, Jönsson JI, Hultman P (2010)
    Deficiency of activating Fc?-receptors reduces hepatic clearance and deposition of IC and increases CIC levels in mercury-induced autoimmunity
    PLoS One, 5 (10), e13413
    PubMed 20976163
29. 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
    PubMed 20398919
30. 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
    PubMed 20180971
31. 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
    PubMed 21070126
32. 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
    PubMed 20065889
33. 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 (2010)
    Sex-dependent association of common variants of microcephaly genes with brain structure
    Proc Natl Acad Sci U S A, 107 (1), 384-8
    PubMed 20080800
34. 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
    PubMed 20453958
35. Rønning P, Andresen PA, Hald JK, Heimdal K, Scheie D, Schreiner T, Helseth E (2010)
    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
    PubMed 19814753
36. 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), 387-96
    PubMed 19526457
37. Selmer KK, Grøndahl J, Riise R, Brandal K, Braaten O, Bragadottir R, Undlien DE (2010)
    Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene
    Acta Ophthalmol, 88 (3), 323-8
    PubMed 19183411
38. Shaw AC, van Balkom ID, Bauer M, Cole TR, Delrue MA, Van Haeringen A, Holmberg E, Knight SJ, Mortier G, Nampoothiri S, Pu?elji? 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
    PubMed 20949508
39. 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
    PubMed 20553101
40. 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
    PubMed 20587412
41. Skinningsrud B, Lie BA, Husebye ES, Kvien TK, Førre Ø, Flatø B, Stormyr A, Joner G, Njølstad PR, Egeland T, Undlien DE (2010)
    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
    PubMed 19734133
42. 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
    PubMed 20519147
43. 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
    PubMed 20574922
44. Stavik B, Skretting G, Sletten M, Sandset PM, Iversen N (2010)
    Overexpression of both TFPI? and TFPI? induces apoptosis and expression of genes involved in the death receptor pathway in breast cancer cells
    Mol Carcinog, 49 (11), 951-63
    PubMed 20886581
45. 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
    PubMed 20800085
46. Stene LC, Rønningen KS, Bjørnvold M, Undlien DE, Joner G (2010)
    An inverse association between history of childhood eczema and subsequent risk of type 1 diabetes that is not likely to be explained by HLA-DQ, PTPN22, or CTLA4 polymorphisms
    Pediatr Diabetes, 11 (6), 386-93
    PubMed 19895409
47. Strøm TB, Holla ØL, Cameron J, Berge KE, Leren TP (2010)
    Loss-of-function mutation R46L in the PCSK9 gene has little impact on the levels of total serum cholesterol in familial hypercholesterolemia heterozygotes
    Clin Chim Acta, 411 (3-4), 229-33
    PubMed 19917273
48. 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
    PubMed 20659812
49. Tajsharghi H, Leren TP, Abdul-Hussein S, Tulinius M, Brunvand L, Dahl HM, Oldfors A (2010)
    Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C
    J Med Genet, 47 (8), 575-7
    PubMed 19858127
50. 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
    PubMed 20872766
51. 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
    PubMed 20815936
52. van Walsem MR, Sundet K, Retterstøl L, Sundseth Ø (2010)
    A double blind evaluation of cognitive decline in a Norwegian cohort of asymptomatic carriers of Huntington's disease
    J Clin Exp Neuropsychol, 32 (6), 590-8
    PubMed 19916101
53. 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), 610-8
    PubMed 19746410
54. Vasen HF, Möslein G, Alonso A, Aretz S, Bernstein I, Bertario L, Blanco I, Bulow S, Burn J, Capella G, Colas C, Engel C, Frayling I, Rahner N, Hes FJ, Hodgson S, Mecklin JP, Møller P, Myrhøj T, Nagengast FM, Parc Y, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A et al. (2010)
    Recommendations to improve identification of hereditary and familial colorectal cancer in Europe
    Fam Cancer, 9 (2), 109-15
    PubMed 19763885
55. 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
    PubMed 19960482
56. 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
    PubMed 20373279
57. 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
    PubMed 20605701
58. Aamot H, Gigic B, Abel U, Karapanagiotou-Schenkel I (2010)
    Continuous monitoring of toxicity in clinical trials - simulating the risk of stopping prematurely
    Int J Clin Pharmacol Ther, 48 (7), 476-7
    PubMed 20557850

Publications 2009

1. 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
   PubMed 19935664
2. 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
   PubMed 19491717
3. 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
   PubMed 19444466
4. 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
   PubMed 19835613
5. Aurlien D, Leren TP, Taubøll E, Gjerstad L (2009)
   New SCN5A mutation in a SUDEP victim with idiopathic epilepsy
   Seizure, 18 (2), 158-60
   PubMed 18752973
6. 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
   PubMed 19229299
7. Bjørnstad PG, Leren TP (2009)
   Familial atrial septal defect in the oval fossa with progressive prolongation of the atrioventricular conduction caused by mutations in the NKX2.5 gene
   Cardiol Young, 19 (1), 40-4
   PubMed 19049681
8. 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
   PubMed 19148143
9. 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
   PubMed 19863225
10. 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
    PubMed 19760602
11. 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
    PubMed 19890026
12. 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
    PubMed 19803777
13. 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
    PubMed 19191747
14. 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
    PubMed 19361455
15. Cameron J, Holla ØL, Laerdahl JK, Kulseth MA, Berge KE, Leren TP (2009)
    Mutation S462P in the PCSK9 gene reduces secretion of mutant PCSK9 without affecting the autocatalytic cleavage
    Atherosclerosis, 203 (1), 161-5
    PubMed 19022446
16. Carbone L, D'addabbo P, Cardone MF, Teti MG, Misceo D, Vessere GM, de Jong PJ, Rocchi M (2009)
    A satellite-like sequence, representing a >clone gap> in the human genome, was likely involved in the seeding of a novel centromere in macaque
    Chromosoma, 118 (2), 269-77
    PubMed 19048265
17. 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
    PubMed 19690609
18. 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
    PubMed 19414485
19. 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
    PubMed 19603525
20. Danielsen SA, Lind GE, Biornslett M, Meling GI, Rognum TO, Heim S, Lothe RA (2009)
    Novel Mutations of the Suppressor Gene PTEN in Colorectal Carcinomas Stratified by Microsatellite Instability- and TP53 Mutation- Status (vol 29, pg E252, 2008)
    Hum. Mutat., 30 (6), 1023
21. Djurovic S, Kähler AK, Kulle B, Jönsson EG, Agartz I, Le Hellard S, Hall H, Jakobsen KD, Hansen T, Melle I, Werge T, Steen VM, Andreassen OA (2009)
    A possible association between schizophrenia and GRIK3 polymorphisms in a multicenter sample of Scandinavian origin (SCOPE)
    Schizophr Res, 107 (2-3), 242-8
    PubMed 19022628
22. 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
    PubMed 19223264
23. Eike MC, Olsson M, Undlien DE, Dahl-Jørgensen K, Joner G, Rønningen KS, Thorsby E, Lie BA (2009)
    Genetic variants of the HLA-A, HLA-B and AIF1 loci show independent associations with type 1 diabetes in Norwegian families
    Genes Immun, 10 (2), 141-50
    PubMed 18987644
24. 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
    PubMed 19690597
25. 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
    PubMed 19339254
26. 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
    PubMed 19858318
27. Evans DG, Baildam AD, Anderson E, Brain A, Shenton A, Vasen HF, Eccles D, Lucassen A, Pichert G, Hamed H, Moller P, Maehle L, Morrison PJ, Stoppat-Lyonnet D, Gregory H, Smyth E, Niederacher D, Nestle-Krämling C, Campbell J, Hopwood P, Lalloo F, Howell A (2009)
    Risk reducing mastectomy: outcomes in 10 European centres
    J Med Genet, 46 (4), 254-8
    PubMed 18996907
28. Evans DG, Gaarenstroom KN, Stirling D, Shenton A, Maehle L, Dørum A, Steel M, Lalloo F, Apold J, Porteous ME, Vasen HF, van Asperen CJ, Moller P (2009)
    Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancers
    J Med Genet, 46 (9), 593-7
    PubMed 18413372
29. 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
    PubMed 19760620
30. Ginsburg O, Ghadirian P, Lubinski J, Cybulski C, Lynch H, Neuhausen S, Kim-Sing C, Robson M, Domchek S, Isaacs C, Klijn J, Armel S, Foulkes WD, Tung N, Moller P, Sun P, Narod SA, Hereditary Breast Cancer Clinical Study Group (2009)
    Smoking and the risk of breast cancer in BRCA1 and BRCA2 carriers: an update
    Breast Cancer Res Treat, 114 (1), 127-35
    PubMed 18483851
31. 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
    PubMed 19396867
32. Grindedal EM, Blanco I, Stormorken A, Maehle L, Clark N, González S, Capella G, Vasen H, Burn J, Møller P (2009)
    High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriers
    Fam Cancer, 8 (2), 145-51
    PubMed 18841495
33. 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
    PubMed 19723918
34. 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
    PubMed 19366445
35. 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
    PubMed 19698782
36. Haugen G, Rønnestad A, Kroken M (2009)
    Variations in fetal phenotype in Prader-Willi syndrome
    Prenat Diagn, 29 (3), 294
    PubMed 19248040
37. Haugaa KH, Edvardsen T, Leren TP, Gran JM, Smiseth OA, Amlie JP (2009)
    Left ventricular mechanical dispersion by tissue Doppler imaging: a novel approach for identifying high-risk individuals with long QT syndrome
    Eur Heart J, 30 (3), 330-7
    PubMed 18940888
38. Haugaa KH, Edvardsen T, Leren TP, Smiseth OA, Amlie JP (2009)
    Abnormal left ventricular relaxation in patients with long QT syndrome: reply
    Eur. Heart J., 30 (22), 2814-2815
39. Haugaa KH, Leren TP, Amlie JP (2009)
    Genetic testing in specific cardiomyopathies
    F1000 Med Rep, 1
    PubMed 20948728
40. 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
    PubMed 19148831
41. 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
    PubMed 19208450
42. 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 Report Med, 2009, 963645
    PubMed 19829766
43. 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
    PubMed 19717458
44. 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
    PubMed 19439994
45. 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
    PubMed 19530250
46. 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
    PubMed 19929281
47. Leigh SE, Leren TP, Humphries SE (2009)
    Commentary PCSK9 variants: A new database
    Atherosclerosis, 203 (1), 32-3
    PubMed 19249440
48. Leren TP, Berge KE (2009)
    Comparison of clinical and molecular genetic criteria for diagnosing familial hypercholesterolemia
    Clin. Lipidol., 4 (3), 303-310
49. 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
    PubMed 19461064
50. 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
    PubMed 19156171
51. Lyle R, Béna F, Gagos S, Gehrig C, Lopez G, Schinzel A, Lespinasse J, Bottani A, Dahoun S, Taine L, Doco-Fenzy M, Cornillet-Lefèbvre P, Pelet A, Lyonnet S, Toutain A, Colleaux L, Horst J, Kennerknecht I, Wakamatsu N, Descartes M, Franklin JC, Florentin-Arar L, Kitsiou S, Aït Yahya-Graison E, Costantine M et al. (2009)
    Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
    Eur J Hum Genet, 17 (4), 454-66
    PubMed 19002211
52. Magitta NF, Bøe Wolff AS, Johansson S, Skinningsrud B, Lie BA, Myhr KM, Undlien DE, Joner G, Njølstad PR, Kvien TK, Førre Ø, Knappskog PM, Husebye ES (2009)
    A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes
    Genes Immun, 10 (2), 120-4
    PubMed 18946481
53. 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
    PubMed 19609727
54. 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
    PubMed 19168282
55. 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
    PubMed 18973136
56. 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
    PubMed 19471976
57. Misceo D, Orstavik KH, Lybaek H, Sandvig I, Ormerod E, Houge G, Frengen E (2009)
    Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother
    Am J Med Genet A, 149A (12), 2877-81
    PubMed 19938092
58. Misceo D, Rocchi M, van der Hagen CB, Frengen E (2009)
    A partial trisomy 1q patient with a deletion 1q22 and an insertion 1(q42q44) into 1q22
    Am J Med Genet A, 149A (2), 290-3
    PubMed 19161140
59. 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
    PubMed 19850680
60. 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
    PubMed 19472221
61. 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
    PubMed 19935936
62. 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
    PubMed 19930098
63. 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
    PubMed 19432973
64. Nakken KE, Labori KJ, Rødningen OK, Nakken S, Berge KE, Eiklid K, Raeder MG (2009)
    ABCB4 sequence variations in young adults with cholesterol gallstone disease
    Liver Int, 29 (5), 743-7
    PubMed 19018976
65. 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
    PubMed 18785065
66. Negaard HF, Iversen N, Bowitz-Lothe IM, Sandset PM, Steinsvik B, Ostenstad B, Iversen PO (2009)
    Increased bone marrow microvascular density in haematological malignancies is associated with differential regulation of angiogenic factors
    Leukemia, 23 (1), 162-9
    PubMed 18800145
67. 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
    PubMed 19373600
68. 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
    PubMed 19665318
69. 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
    PubMed 19184727
70. Orstavik KH (2009)
    X chromosome inactivation in clinical practice
    Hum Genet, 126 (3), 363-73
    PubMed 19396465
71. 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
    PubMed 19344762
72. 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
    PubMed 19057379
73. 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
    PubMed 19293838
74. 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
    PubMed 19525956
75. Riise R, D'haene B, De Baere E, Grønskov K, Brøndum-Nielsen K (2009)
    Rieger syndrome is not associated with PAX6 deletion: a correction to Acta Ophthalmol Scand 2001: 79: 201-203
    Acta Ophthalmol, 87 (8), 923
    PubMed 19764918
76. 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
    PubMed 19619532
77. Rujescu D, Ingason A, Cichon S, Pietiläinen OP, Barnes MR, Toulopoulou T, Picchioni M, Vassos E, Ettinger U, Bramon E, Murray R, Ruggeri M, Tosato S, Bonetto C, Steinberg S, Sigurdsson E, Sigmundsson T, Petursson H, Gylfason A, Olason PI, Hardarsson G, Jonsdottir GA, Gustafsson O, Fossdal R, Giegling I et al. (2009)
    Disruption of the neurexin 1 gene is associated with schizophrenia
    Hum Mol Genet, 18 (5), 988-96
    PubMed 18945720
78. 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
    PubMed 19171925
79. 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
    PubMed 19673951
80. 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
    PubMed 19782004
81. 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
    PubMed 19535362
82. Sjursen W, Bjørnevoll I, Engebretsen LF, Fjelland K, Halvorsen T, Myrvold HE (2009)
    A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts
    Fam Cancer, 8 (3), 179-86
    PubMed 19039682
83. Skare Ø, Sheehan N, Egeland T (2009)
    Identification of distant family relationships
    Bioinformatics, 25 (18), 2376-82
    PubMed 19584067
84. 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
    PubMed 19773398
85. Skretting G, Lien T, Sandset PM, Iversen N (2009)
    Expression of the V264M TFPI mutant in endothelial cell cultures may involve mRNA stability
    Thromb Res, 123 (6), 851-5
    PubMed 19007969
86. Stefansson H, Ophoff RA, Steinberg S, Andreassen OA, Cichon S, Rujescu D, Werge T, Pietiläinen OP, Mors O, Mortensen PB, Sigurdsson E, Gustafsson O, Nyegaard M, Tuulio-Henriksson A, Ingason A, Hansen T, Suvisaari J, Lonnqvist J, Paunio T, Børglum AD, Hartmann A, Fink-Jensen A, Nordentoft M, Hougaard D, Norgaard-Pedersen B et al. (2009)
    Common variants conferring risk of schizophrenia
    Nature, 460 (7256), 744-7
    PubMed 19571808
87. Størvold GL, Fleten KG, Olsen CG, Follestad T, Krokan HE, Schønberg SA (2009)
    Docosahexaenoic acid activates some SREBP-2 targets independent of cholesterol and ER stress in SW620 colon cancer cells
    Lipids, 44 (8), 673-83
    PubMed 19582494
88. Tatton-Brown K, Pilz DT, Orstavik KH, Patton M, Barber JC, Collinson MN, Maloney VK, Huang S, Crolla JA, Marks K, Ormerod E, Thompson P, Nawaz Z, Lese-Martin C, Tomkins S, Waits P, Rahman N, McEntagart M (2009)
    15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q
    Am J Med Genet A, 149A (2), 147-54
    PubMed 19133692
89. Tesli M, Kähler AK, Andreassen BK, Werge T, Mors O, Mellerup E, Koefoed P, Melle I, Morken G, Wirgenes KV, Andreassen OA, Djurovic S (2009)
    No association between DGKH and bipolar disorder in a Scandinavian case-control sample
    Psychiatr Genet, 19 (5), 269-72
    PubMed 19478689
90. Tveten K, Khoo KL, Berge KE, Leren TP, Kulseth MA (2009)
    Functional analysis of the synonymous R385R mutation in the low-density lipoprotein receptor gene
    Genet Test Mol Biomarkers, 13 (2), 243-8
    PubMed 19371225
91. Tveten K, Ranheim T, Berge KE, Leren TP, Kulseth MA (2009)
    The effect of bafilomycin A1 and protease inhibitors on the degradation and recycling of a Class 5-mutant LDLR
    Acta Biochim Biophys Sin (Shanghai), 41 (3), 246-55
    PubMed 19280064
92. van Schijndel JE, van Loo KM, van Zweeden M, Djurovic S, Andreassen OA, Hansen T, Werge T, Kallunki P, Pedersen JT, Martens GJ (2009)
    Three-cohort targeted gene screening reveals a non-synonymous TRKA polymorphism associated with schizophrenia
    J Psychiatr Res, 43 (15), 1195-9
    PubMed 19435634
93. Viken MK, Blomhoff A, Olsson M, Akselsen HE, Pociot F, Nerup J, Kockum I, Cambon-Thomsen A, Thorsby E, Undlien DE, Lie BA (2009)
    Reproducible association with type 1 diabetes in the extended class I region of the major histocompatibility complex
    Genes Immun, 10 (4), 323-33
    PubMed 19295542
94. Wagle J, Farner L, Flekkøy K, Wyller TB, Sandvik L, Eiklid KL, Fure B, Stensrød B, Engedal K (2009)
    Association between ApoE epsilon4 and cognitive impairment after stroke
    Dement Geriatr Cogn Disord, 27 (6), 525-33
    PubMed 19494491
95. Wangensteen T, Kolsgaard ML, Mattingsdal M, Joner G, Tonstad S, Undlien D, Retterstol L (2009)
    Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway
    Exp Clin Endocrinol Diabetes, 117 (6), 266-73
    PubMed 19301229
96. Wirgenes KV, Djurovic S, Agartz I, Jonsson EG, Werge T, Melle I, Andreassen OA (2009)
    Dysbindin and d-amino-acid-oxidase gene polymorphisms associated with positive and negative symptoms in schizophrenia
    Neuropsychobiology, 60 (1), 31-6
    PubMed 19729970
97. Wu W, Slåstad H, de la Rosa Carrillo D, Frey T, Tjønnfjord G, Boretti E, Aasheim HC, Horejsi V, Lund-Johansen F (2009)
    Antibody array analysis with label-based detection and resolution of protein size
    Mol Cell Proteomics, 8 (2), 245-57
    PubMed 18796702
98. Wälchli S, Aasheim HC, Skånland SS, Spilsberg B, Torgersen ML, Rosendal KR, Sandvig K (2009)
    Characterization of clathrin and Syk interaction upon Shiga toxin binding
    Cell Signal, 21 (7), 1161-8
    PubMed 19289168

Publications 2008

1. Attanasio C, Reymond A, Humbert R, Lyle R, Kuehn MS, Neph S, Sabo PJ, Goldy J, Weaver M, Haydock A, Lee K, Dorschner M, Dermitzakis ET, Antonarakis SE, Stamatoyannopoulos JA (2008)
   Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells
   Genome Biol, 9 (12), R168
   PubMed 19055709
2. Barøy T, Misceo D, Frengen E (2008)
   [Structural variation in the human genome contributes to variation of traits]
   Tidsskr Nor Laegeforen, 128 (17), 1951-5
   PubMed 18787571
3. Berge KE, Haugaa KH, Früh A, Anfinsen OG, Gjesdal K, Siem G, Oyen N, Greve G, Carlsson A, Rognum TO, Hallerud M, Kongsgård E, Amlie JP, Leren TP (2008)
   Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers
   Scand J Clin Lab Invest, 68 (5), 362-8
   PubMed 18752142
4. Bjørnvold M, Undlien DE, Joner G, Dahl-Jørgensen K, Njølstad PR, Akselsen HE, Gervin K, Rønningen KS, Stene LC (2008)
   Joint effects of HLA, INS, PTPN22 and CTLA4 genes on the risk of type 1 diabetes
   Diabetologia, 51 (4), 589-96
   PubMed 18292987
5. Boye K, Grotterød I, Aasheim HC, Hovig E, Maelandsmo GM (2008)
   Activation of NF-kappaB by extracellular S100A4: analysis of signal transduction mechanisms and identification of target genes
   Int J Cancer, 123 (6), 1301-10
   PubMed 18548584
6. Brandal P, Panagopoulos I, Bjerkehagen B, Gorunova L, Skjeldal S, Micci F, Heim S (2008)
   Detection of a t(1;22)(q23;q12) translocation leading to an EWSR1-PBX1 fusion gene in a myoepithelioma
   Genes Chromosomes Cancer, 47 (7), 558-64
   PubMed 18383210
7. Cameron J, Holla OL, Laerdahl JK, Kulseth MA, Ranheim T, Rognes T, Berge KE, Leren TP (2008)
   Characterization of novel mutations in the catalytic domain of the PCSK9 gene
   J Intern Med, 263 (4), 420-31
   PubMed 18266662
8. Cameron J, Holla ØL, Berge KE, Kulseth MA, Ranheim T, Leren TP, Laerdahl JK (2008)
   Investigations on the evolutionary conservation of PCSK9 reveal a functionally important protrusion
   FEBS J, 275 (16), 4121-33
   PubMed 18631360
9. Cameron J, Ranheim T, Kulseth MA, Leren TP, Berge KE (2008)
   Berberine decreases PCSK9 expression in HepG2 cells
   Atherosclerosis, 201 (2), 266-73
   PubMed 18355829
10. Canzonetta C, Mulligan C, Deutsch S, Ruf S, O'Doherty A, Lyle R, Borel C, Lin-Marq N, Delom F, Groet J, Schnappauf F, De Vita S, Averill S, Priestley JV, Martin JE, Shipley J, Denyer G, Epstein CJ, Fillat C, Estivill X, Tybulewicz VL, Fisher EM, Antonarakis SE, Nizetic D (2008)
    DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome
    Am J Hum Genet, 83 (3), 388-400
    PubMed 18771760
11. Cerveira N, Micci F, Santos J, Pinheiro M, Correia C, Lisboa S, Bizarro S, Norton L, Glomstein A, Asberg AE, Heim S, Teixeira MR (2008)
    Molecular characterization of the MLL-SEPT6 fusion gene in acute myeloid leukemia: identification of novel fusion transcripts and cloning of genomic breakpoint junctions
    Haematologica, 93 (7), 1076-80
    PubMed 18492691
12. Chrisanthar R, Knappskog S, Løkkevik E, Anker G, Østenstad B, Lundgren S, Berge EO, Risberg T, Mjaaland I, Maehle L, Engebretsen LF, Lillehaug JR, Lønning PE (2008)
    CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer
    PLoS One, 3 (8), e3062
    PubMed 18725978
13. Dahoun S, Gagos S, Gagnebin M, Gehrig C, Burgi C, Simon F, Vieux C, Extermann P, Lyle R, Morris MA, Antonarakis SE, Béna F, Blouin JL (2008)
    Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events
    Am J Med Genet A, 146A (16), 2086-93
    PubMed 18627064
14. Danielsen SA, Lind GE, Bjørnslett M, Meling GI, Rognum TO, Heim S, Lothe RA (2008)
    Novel mutations of the suppressor gene PTEN in colorectal carcinomas stratified by microsatellite instability- and TP53 mutation- status
    Hum Mutat, 29 (11), E252-62
    PubMed 18781614
15. Edén U, Beijar C, Riise R, Tornqvist K (2008)
    Aniridia among children and teenagers in Sweden and Norway
    Acta Ophthalmol, 86 (7), 730-4
    PubMed 18494744
16. Edén U, Iggman D, Riise R, Tornqvist K (2008)
    Epidemiology of aniridia in Sweden and Norway
    Acta Ophthalmol, 86 (7), 727-9
    PubMed 18494745
17. Egeblad M, Ewald AJ, Askautrud HA, Truitt ML, Welm BE, Bainbridge E, Peeters G, Krummel MF, Werb Z (2008)
    Visualizing stromal cell dynamics in different tumor microenvironments by spinning disk confocal microscopy
    Dis Model Mech, 1 (2-3), 155-67; discussion 165
    PubMed 19048079
18. Egeland T, Salas A (2008)
    Estimating haplotype frequency and coverage of databases
    PLoS One, 3 (12), e3988
    PubMed 19098988
19. Egeland T, Sheehan N (2008)
    On identification problems requiring linked autosomal markers
    Forensic Sci Int Genet, 2 (3), 219-25
    PubMed 19083824
20. Eike MC, Nordang GB, Karlsen TH, Boberg KM, Vatn MH, IBSEN study group, Dahl-Jørgensen K, Rønningen KS, Joner G, Flatø B, Bergquist A, Thorsby E, Førre O, Kvien TK, Undlien DE, Lie BA (2008)
    The FCRL3 -169T>C polymorphism is associated with rheumatoid arthritis and shows suggestive evidence of involvement with juvenile idiopathic arthritis in a Scandinavian panel of autoimmune diseases
    Ann Rheum Dis, 67 (9), 1287-91
    PubMed 18065500
21. Fagerlund A, Myrset AH, Kulseth MA (2008)
    Construction and characterization of a 9-mer phage display pVIII-library with regulated peptide density
    Appl Microbiol Biotechnol, 80 (5), 925-36
    PubMed 18716770
22. Fløisand Y, Normann AP, Heim S, Lund-Johansen F, Tjønnfjord GE (2008)
    High expression of CD7 on CD34+ cells is not linked to deletion of derivative chromosome 9 or lack of dendritic cells in chronic myeloid leukaemia
    Scand J Clin Lab Invest, 68 (2), 93-8
    PubMed 17852828
23. Fokstuen S, Lyle R, Munoz A, Gehrig C, Lerch R, Perrot A, Osterziel KJ, Geier C, Beghetti M, Mach F, Sztajzel J, Sigwart U, Antonarakis SE, Blouin JL (2008)
    A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy
    Hum Mutat, 29 (6), 879-85
    PubMed 18409188
24. Forestier E, Gauffin F, Andersen MK, Autio K, Borgström G, Golovleva I, Gustafsson B, Heim S, Heinonen K, Heyman M, Hovland R, Johannsson JH, Kerndrup G, Rosenquist R, Schoumans J, Swolin B, Johansson B, Nordgren A, Nordic Society of Pediatric Hematology and Oncology, Swedish Cytogenetic Leukemia Study Group, NOPHO Leukemia Cytogenetic Study Group (2008)
    Clinical and cytogenetic features of pediatric dic(9;20)(p13.2;q11.2)-positive B-cell precursor acute lymphoblastic leukemias: a Nordic series of 24 cases and review of the literature
    Genes Chromosomes Cancer, 47 (2), 149-58
    PubMed 17990329
25. Forestier E, Heyman M, Andersen MK, Autio K, Blennow E, Borgström G, Golovleva I, Heim S, Heinonen K, Hovland R, Johannsson JH, Kerndrup G, Nordgren A, Rosenquist R, Swolin B, Johansson B, Nordic Society of Paediatric Haematology, Oncology (NOPHO), Swedish Cytogenetic Leukaemia Study Group (SCLSG), NOPHO Leukaemia Cytogenetic Study Group (NLCSG) (2008)
    Outcome of ETV6/RUNX1-positive childhood acute lymphoblastic leukaemia in the NOPHO-ALL-1992 protocol: frequent late relapses but good overall survival
    Br J Haematol, 140 (6), 665-72
    PubMed 18241254
26. Friedli M, Nikolaev S, Lyle R, Arcangeli M, Duboule D, Spitz F, Antonarakis SE (2008)
    Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3
    Mamm Genome, 19 (4), 272-8
    PubMed 18392654
27. Geirdal AØ, Dahl AA (2008)
    The relationship between coping strategies and anxiety in women from families with familial breast-ovarian cancer in the absence of demonstrated mutations
    Psychooncology, 17 (1), 49-57
    PubMed 17385192
28. Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE et al. (2008)
    SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
    Am J Hum Genet, 82 (4), 1003-10
    PubMed 18342287
29. Graven T, Loennechen JP, Leren TP (2008)
    [Brugada syndrome]
    Tidsskr Nor Laegeforen, 128 (24), 2828-31
    PubMed 19092950
30. Hadfield KD, Newman WG, Bowers NL, Wallace A, Bolger C, Colley A, McCann E, Trump D, Prescott T, Evans DG (2008)
    Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis
    J Med Genet, 45 (6), 332-9
    PubMed 18285426
31. Haug KB, Sharikabad MN, Kringen MK, Narum S, Sjaatil ST, Johansen PW, Kierulf P, Seljeflot I, Arnesen H, Brørs O (2008)
    Warfarin dose and INR related to genotypes of CYP2C9 and VKORC1 in patients with myocardial infarction
    Thromb J, 6, 7
    PubMed 18559094
32. Heiberg A (2008)
    [Huntington's disease]
    Tidsskr Nor Laegeforen, 128 (19), 2214-7
    PubMed 18846148
33. Heim S, Mitelman F (2008)
    Molecular screening for new fusion genes in cancer
    Nat Genet, 40 (6), 685-6
    PubMed 18509307
34. Helsing P, Nymoen DA, Ariansen S, Steine SJ, Maehle L, Aamdal S, Langmark F, Loeb M, Akslen LA, Molven A, Andresen PA (2008)
    Population-based prevalence of CDKN2A and CDK4 mutations in patients with multiple primary melanomas
    Genes Chromosomes Cancer, 47 (2), 175-84
    PubMed 18023021
35. Holen HL, Shadidi M, Narvhus K, Kjøsnes O, Tierens A, Aasheim HC (2008)
    Signaling through ephrin-A ligand leads to activation of Src-family kinases, Akt phosphorylation, and inhibition of antigen receptor-induced apoptosis
    J Leukoc Biol, 84 (4), 1183-91
    PubMed 18593733
36. Jakobsen CH, Størvold GL, Bremseth H, Follestad T, Sand K, Mack M, Olsen KS, Lundemo AG, Iversen JG, Krokan HE, Schønberg SA (2008)
    DHA induces ER stress and growth arrest in human colon cancer cells: associations with cholesterol and calcium homeostasis
    J Lipid Res, 49 (10), 2089-100
    PubMed 18566476
37. Kimber W, Peelman F, Prieur X, Wangensteen T, O'Rahilly S, Tavernier J, Farooqi IS (2008)
    Functional characterization of naturally occurring pathogenic mutations in the human leptin receptor
    Endocrinology, 149 (12), 6043-52
    PubMed 18703626
38. Knudsen GP, Riegert-Johnson DL, Meling GI, Boardman LA, Orstavik KH (2008)
    Lack of association between skewing of X-chromosome inactivation in blood cells and colorectal cancer
    Int J Biol Markers, 23 (2), 127-8
    PubMed 18629787
39. Kolltveit KM, Granum S, Aasheim HC, Forsbring M, Sundvold-Gjerstad V, Dai KZ, Molberg O, Schjetne KW, Bogen B, Shapiro VS, Johansen FE, Schenck K, Spurkland A (2008)
    Expression of SH2D2A in T-cells is regulated both at the transcriptional and translational level
    Mol Immunol, 45 (8), 2380-90
    PubMed 18160104
40. Kolset SO, Zernichow L (2008)
    Serglycin and secretion in human monocytes
    Glycoconj J, 25 (4), 305-11
    PubMed 17909965
41. Kolsgaard ML, Andersen LF, Tonstad S, Brunborg C, Wangensteen T, Joner G (2008)
    Ethnic differences in metabolic syndrome among overweight and obese children and adolescents: the Oslo Adiposity Intervention Study
    Acta Paediatr, 97 (11), 1557-63
    PubMed 18657125
42. Kotsopoulos J, Librach CL, Lubinski J, Gronwald J, Kim-Sing C, Ghadirian P, Lynch HT, Moller P, Foulkes WD, Randall S, Manoukian S, Pasini B, Tung N, Ainsworth PJ, Cummings S, Sun P, Narod SA, Hereditary Breast Cancer Clinical Study Group (2008)
    Infertility, treatment of infertility, and the risk of breast cancer among women with BRCA1 and BRCA2 mutations: a case-control study
    Cancer Causes Control, 19 (10), 1111-9
    PubMed 18509731
43. Kähler AK, Djurovic S, Kulle B, Jönsson EG, Agartz I, Hall H, Opjordsmoen S, Jakobsen KD, Hansen T, Melle I, Werge T, Steen VM, Andreassen OA (2008)
    Association analysis of schizophrenia on 18 genes involved in neuronal migration: MDGA1 as a new susceptibility gene
    Am J Med Genet B Neuropsychiatr Genet, 147B (7), 1089-100
    PubMed 18384059
44. Kaasen A, Prescott TE, Heiberg A, Scott H, Haugen G (2008)
    Investigations as a prerequisite for genetic counseling after termination of pregnancy based on sonographic detection of serious central nervous system--or skeletal anomalies
    Acta Obstet Gynecol Scand, 87 (10), 998-1005
    PubMed 18798055
45. Leren TP, Berge KE (2008)
    Identification of mutations in the apolipoprotein B-100 gene and in the PCSK9 gene as the cause of hypocholesterolemia
    Clin Chim Acta, 397 (1-2), 92-5
    PubMed 18710658
46. Leren TP, Finborud TH, Manshaus TE, Ose L, Berge KE (2008)
    Diagnosis of familial hypercholesterolemia in general practice using clinical diagnostic criteria or genetic testing as part of cascade genetic screening
    Community Genet, 11 (1), 26-35
    PubMed 18196915
47. Linger R, Dudakia D, Huddart R, Tucker K, Friedlander M, Phillips KA, Hogg D, Jewett MA, Lohynska R, Daugaard G, Richard S, Chompret A, Stoppa-Lyonnet D, Bonaïti-Pellié C, Heidenreich A, Albers P, Olah E, Geczi L, Bodrogi I, Daly PA, Guilford P, Fosså SD, Heimdal K, Tjulandin SA, Liubchenko L et al. (2008)
    Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors
    Genes Chromosomes Cancer, 47 (3), 247-52
    PubMed 18069663
48. Maehle L, Apold J, Paulsen T, Hagen B, Løvslett K, Fiane B, Van Ghelue M, Clark N, Møller P (2008)
    High risk for ovarian cancer in a prospective series is restricted to BRCA1/2 mutation carriers
    Clin Cancer Res, 14 (22), 7569-73
    PubMed 19010876
49. Malm G, Lund AM, Månsson JE, Heiberg A (2008)
    Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence
    Acta Paediatr, 97 (11), 1577-81
    PubMed 18681890
50. Melve KK, Lie RT, Skjaerven R, Van Der Hagen CB, Gradek GA, Jonsrud C, Braathen GJ, Irgens LM (2008)
    Registration of Down syndrome in the Medical Birth Registry of Norway: validity and time trends
    Acta Obstet Gynecol Scand, 87 (8), 824-30
    PubMed 18607831
51. Metcalfe KA, Birenbaum-Carmeli D, Lubinski J, Gronwald J, Lynch H, Moller P, Ghadirian P, Foulkes WD, Klijn J, Friedman E, Kim-Sing C, Ainsworth P, Rosen B, Domchek S, Wagner T, Tung N, Manoukian S, Couch F, Sun P, Narod SA, Hereditary Breast Cancer Clinical Study Group (2008)
    International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers
    Int J Cancer, 122 (9), 2017-22
    PubMed 18196574
52. Metcalfe KA, Lubinski J, Ghadirian P, Lynch H, Kim-Sing C, Friedman E, Foulkes WD, Domchek S, Ainsworth P, Isaacs C, Tung N, Gronwald J, Cummings S, Wagner T, Manoukian S, Møller P, Weitzel J, Sun P, Narod SA, Hereditary Breast Cancer Clinical Study Group (2008)
    Predictors of contralateral prophylactic mastectomy in women with a BRCA1 or BRCA2 mutation: the Hereditary Breast Cancer Clinical Study Group
    J Clin Oncol, 26 (7), 1093-7
    PubMed 18195327
53. Meza-Zepeda LA, Noer A, Dahl JA, Micci F, Myklebost O, Collas P (2008)
    High-resolution analysis of genetic stability of human adipose tissue stem cells cultured to senescence
    J Cell Mol Med, 12 (2), 553-63
    PubMed 18419597
54. Micci F, Haugom L, Abeler VM, Tropé CG, Danielsen HE, Heim S (2008)
    Consistent numerical chromosome aberrations in thecofibromas of the ovary
    Virchows Arch, 452 (3), 269-76
    PubMed 18188592
55. Misceo D, Bjørgo K, Ormerod E, Ringen Ø, Rocchi M, van der Hagen CB, Frengen E (2008)
    A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient
    Am J Med Genet A, 146A (24), 3230-3
    PubMed 19012337
56. Misceo D, Capozzi O, Roberto R, Dell'oglio MP, Rocchi M, Stanyon R, Archidiacono N (2008)
    Tracking the complex flow of chromosome rearrangements from the Hominoidea Ancestor to extant Hylobates and Nomascus Gibbons by high-resolution synteny mapping
    Genome Res, 18 (9), 1530-7
    PubMed 18552313
57. Molven A, Ringdal M, Nordbø AM, Raeder H, Støy J, Lipkind GM, Steiner DF, Philipson LH, Bergmann I, Aarskog D, Undlien DE, Joner G, Søvik O, Norwegian Childhood Diabetes Study Group, Bell GI, Njølstad PR (2008)
    Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes
    Diabetes, 57 (4), 1131-5
    PubMed 18192540
58. Mulatinho M, Llerena J, Leren TP, Rao PN, Quintero-Rivera F (2008)
    Deletion (1)(p32.2-p32.3) detected by array-CGH in a patient with developmental delay/mental retardation, dysmorphic features and low cholesterol: A new microdeletion syndrome?
    Am J Med Genet A, 146A (17), 2284-90
    PubMed 18680192
59. Munthe-Kaas MC, Carlsen KH, Håland G, Devulapalli CS, Gervin K, Egeland T, Carlsen KL, Undlien D (2008)
    T cell-specific T-box transcription factor haplotype is associated with allergic asthma in children
    J Allergy Clin Immunol, 121 (1), 51-6
    PubMed 17949803
60. Negaard HF, Iversen PO, Østenstad B, Iversen N, Holme PA, Sandset PM (2008)
    Hypercoagulability in patients with haematological neoplasia: no apparent initiation by tissue factor
    Thromb Haemost, 99 (6), 1040-8
    PubMed 18521506
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