Publications 2025

Böker T, Kirkhus E, Pripp AH, Rand-Hendriksen S, Paus B, Smith HJ, Lundby R (2025)
The natural history of protrusio acetabuli in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up CT study
Orphanet J Rare Dis, 20 (1), 118
DOI 10.1186/s13023-025-03628-0, PubMed 40075421

Publications 2024

Iversen N, Henriksson CE, Sletten M, Le MS, Lindberg BR, Andersen R, Paus B (2024)
Heterozygosity for the Budapest 3 mutation in SERPINC1 in a family with thrombophilia and structural anomalies of the inferior vena cava
Thromb J, 22 (1), 75
DOI 10.1186/s12959-024-00644-1, PubMed 39129027

Publications 2022

Ratajska A, Vigeland MD, Wirgenes KV, Krohg-Sørensen K, Paus B (2022)
The use of segregation analysis in interpretation of sequence variants in SMAD3: A case report
Mol Genet Genomic Med, 11 (2), e2107
DOI 10.1002/mgg3.2107, PubMed 36495030

Seim BE, Holt MF, Ratajska A, Michelsen A, Ringseth MM, Halvorsen BE, Skjelland M, Kvitting JP, Lundblad R, Krohg-Sørensen K, Osnes LTN, Aukrust P, Paus B, Ueland T (2022)
Markers of extracellular matrix remodeling and systemic inflammation in patients with heritable thoracic aortic diseases
Front Cardiovasc Med, 9, 1073069
DOI 10.3389/fcvm.2022.1073069, PubMed 36606286

Publications 2021

Paus B (2021)
WHAT DO WE WANT WITH THE FETAL DIAGNOSIS? Ethics of fetal diagnostics
Tidsskr. Nor. Laegeforen., 141 (12), 1217

Publications 2020

Henriksen MW, Breck H, Sejersted Y, Diseth T, von Tetzchner S, Paus B, Skjeldal OH (2020)
Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome
Brain Dev, 42 (7), 484-495
DOI 10.1016/j.braindev.2020.03.008, PubMed 32336485

Publications 2019

Bratlie S, Halvorsen K, Myskja BK, Mellegård H, Bjorvatn C, Frost P, Heiene G, Hofmann B, Holst-Jensen A, Holst-Larsen T, Malnes RS, Paus B, Sandvig B, Sjøli SI, Skarstein B, Thorseth MB, Vagstad N, Våge DI, Borge OJ (2019)
A novel governance framework for GMO: A tiered, more flexible regulation for GMOs would help to stimulate innovation and public debate
EMBO Rep, 20 (5)
DOI 10.15252/embr.201947812, PubMed 31015362

Böker T, Vanem TT, Pripp AH, Rand-Hendriksen S, Paus B, Smith HJ, Lundby R (2019)
Dural ectasia in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up study
Spine J, 19 (8), 1412-1421
DOI 10.1016/j.spinee.2019.04.010, PubMed 30998996

Henriksen MW, Breck H, von Tetzchner S, Paus B, Skjeldal OH (2019)
Medical Issues in Adults with Rett Syndrome - A National Survey
Dev Neurorehabil, 23 (2), 106-112
DOI 10.1080/17518423.2019.1646341, PubMed 31342829

Pope MK, Ratajska A, Johnsen H, Rypdal KB, Sejersted Y, Paus B (2019)
Diagnostics of Hereditary Connective Tissue Disorders by Genetic Next-Generation Sequencing
Genet Test Mol Biomarkers, 23 (11), 783-790
DOI 10.1089/gtmb.2019.0064, PubMed 31638417

Vanem TT, Böker T, Sandvik GF, Kirkhus E, Smith HJ, Andersen K, Drolsum L, Lundby R, Røe C, Krohg-Sørensen K, Geiran OR, Paus B, Rand-Hendriksen S (2019)
Marfan syndrome: Evolving organ manifestations-A 10-year follow-up study
Am J Med Genet A, 182 (2), 397-408
DOI 10.1002/ajmg.a.61441, PubMed 31825148

Publications 2018

Henriksen MW, Breck H, von Tetzchner S, Paus B, Skjeldal OH, Brodtkorb E (2018)
Epilepsy in classic Rett syndrome: Course and characteristics in adult age
Epilepsy Res, 145, 134-139
DOI 10.1016/j.eplepsyres.2018.06.012, PubMed 29966812

Henriksen MW, Ravn K, Paus B, von Tetzchner S, Skjeldal OH (2018)
De novo mutations in SCN1A are associated with classic Rett syndrome: a case report
BMC Med Genet, 19 (1), 184
DOI 10.1186/s12881-018-0700-z, PubMed 30305042

Paus B (2018)
Perhaps test, often explore, always counsel
Tidsskr Nor Laegeforen, 138 (13)
DOI 10.4045/tidsskr.18.0574, PubMed 30180484

Paus B (2018)
[B. Paus responds]
Tidsskr Nor Laegeforen, 138 (16)
DOI 10.4045/tidsskr.18.0735, PubMed 30344325

Paus B (2018)
Perhaps test, often explore, always counsel
Tidsskr. Nor. Laegeforen., 138 (13), 1211

Paus B (2018)
The right to know amyotrophic lateral sclerosis Reply
Tidsskr. Nor. Laegeforen., 138 (16), 1502-1503

Riise N, Lindberg BR, Kulseth MA, Fredwall SO, Lundby R, Estensen ME, Drolsum L, Merckoll E, Krohg-Sørensen K, Paus B (2018)
Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report
BMC Med Genet, 19 (1), 155
DOI 10.1186/s12881-018-0671-0, PubMed 30170566

Vanem TT, Geiran OR, Krohg-Sørensen K, Røe C, Paus B, Rand-Hendriksen S (2018)
Survival, causes of death, and cardiovascular events in patients with Marfan syndrome
Mol Genet Genomic Med, 6 (6), 1114-1123
DOI 10.1002/mgg3.489, PubMed 30393980

Publications 2017

Krohg-Sørensen K, Lingaas PS, Lundblad R, Seem E, Paus B, Geiran OR (2017)
Cardiovascular surgery in Loeys-Dietz syndrome types 1-4
Eur J Cardiothorac Surg, 52 (6), 1125-1131
DOI 10.1093/ejcts/ezx147, PubMed 28541520

Publications 2016

Nordstrom M, Paus B, Retterstol K, Kolset SO (2016)
The prevalence of metabolic risk factors of atherosclerotic cardiovascular disease in Williams syndrome, Prader-Willi syndrome, and Down syndrome
J. Intellect. Dev. Dis., 41 (3), 187-196
DOI 10.3109/13668250.2016.1167845

Publications 2015

Abrahamsen BJ, Kulseth MA, Paus B (2015)
A 19-year-old man with relapsing bilateral pneumothorax, hemoptysis, and intrapulmonary cavitary lesions diagnosed with vascular Ehlers-Danlos syndrome and a novel missense mutation in COL3A1
Chest, 147 (5), e166-e170
DOI 10.1378/chest.13-3002, PubMed 25940258

Nordstrøm M, Paus B, Andersen LF, Kolset SO (2015)
Dietary aspects related to health and obesity in Williams syndrome, Down syndrome, and Prader-Willi syndrome
Food Nutr Res, 59, 25487
DOI 10.3402/fnr.v59.25487, PubMed 25653019

Paus B (2015)
[When we talk about genes]
Tidsskr Nor Laegeforen, 135 (8), 774-5
DOI 10.4045/tidsskr.15.0253, PubMed 25947602

Tjeldhorn L, Amundsen SS, Barøy T, Rand-Hendriksen S, Geiran O, Frengen E, Paus B (2015)
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome
BMC Med Genet, 16, 113
DOI 10.1186/s12881-015-0260-4, PubMed 26684006

Publications 2014

Drolsum L, Rand-Hendriksen S, Paus B, Geiran OR, Semb SO (2014)
Ocular findings in 87 adults with Ghent-1 verified Marfan syndrome
Acta Ophthalmol, 93 (1), 46-53
DOI 10.1111/aos.12448, PubMed 24853997

Publications 2013

Nordstrøm M, Hansen BH, Paus B, Kolset SO (2013)
Accelerometer-determined physical activity and walking capacity in persons with Down syndrome, Williams syndrome and Prader-Willi syndrome
Res Dev Disabil, 34 (12), 4395-403
DOI 10.1016/j.ridd.2013.09.021, PubMed 24139709

Publications 2009

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

Paus B (2009)
Klinisk genetikk: en innføringsbok
Gyldendal akademisk, Oslo, 245 s.
BIBSYS 092729819, ISBN 978-82-05-39343-1

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

Publications 2007

Rand-Hendriksen S, Tjeldhorn L, Lundby R, Semb SO, Offstad J, Andersen K, Geiran O, Paus B (2007)
Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome
Am J Med Genet A, 143A (17), 1968-77
DOI 10.1002/ajmg.a.31759, PubMed 17663468

Publications 2006

Rand-Hendriksen S, Wekre LL, Paus B (2006)
[Ehlers-Danlos syndrome--diagnosis and subclassification]
Tidsskr Nor Laegeforen, 126 (15), 1903-7
PubMed 16915311

Tjeldhorn L, Rand-Hendriksen S, Gervin K, Brandal K, Inderhaug E, Geiran O, Paus B (2006)
Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy
Genet Test, 10 (4), 258-64
DOI 10.1089/gte.2006.258-264, PubMed 17253931

Publications 2003

Retterstol L, Paus B, Bohn M, Bakken A, Erikssen J, Malinow MR, Berg K (2003)
Plasma total homocysteine levels and prognosis in patients with previous premature myocardial infarction: a 10-year follow-up study
J Intern Med, 253 (3), 284-92
DOI 10.1046/j.1365-2796.2003.01096.x, PubMed 12603495

Publications 2002

Arbour L, Christensen B, Delormier T, Platt R, Gilfix B, Forbes P, Kovitch I, Morel J, Rozen R (2002)
Spina bifida, folate metabolism, and dietary folate intake in a Northern Canadian aboriginal population
Int J Circumpolar Health, 61 (4), 341-51
DOI 10.3402/ijch.v61i4.17492, PubMed 12546192

Blaas HG, Eriksson AG, Salvesen KA, Isaksen CV, Christensen B, Møllerløkken G, Eik-Nes SH (2002)
Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases
Ultrasound Obstet Gynecol, 19 (1), 24-38
DOI 10.1046/j.0960-7692.2001.00154.x, PubMed 11851965

Ernest S, Christensen B, Gilfix BM, Mamer OA, Hosack A, Rodier M, Colmenares C, McGrath J, Bale A, Balling R, Sankoff D, Rosenblatt DS, Nadeau JH (2002)
Genetic and molecular control of folate-homocysteine metabolism in mutant mice
Mamm Genome, 13 (5), 259-67
DOI 10.1007/s00335-001-3054-2, PubMed 12016514

Mosdøl A, Christensen B, Retterstøl L, Thelle DS (2002)
Induced changes in the consumption of coffee alter ad libitum dietary intake and physical activity level
Br J Nutr, 87 (3), 261-6
DOI 10.1079/BJNBJN2001506, PubMed 12064335

Schumacher A, Seljeflot I, Sommervoll L, Christensen B, Otterstad JE, Arnesen H (2002)
Increased levels of endothelial haemostatic markers in patients with coronary heart disease
Thromb Res, 105 (1), 25-31
DOI 10.1016/s0049-3848(01)00399-1, PubMed 11864703

Schumacher A, Seljeflot I, Sommervoll L, Christensen B, Otterstad JE, Arnesen H (2002)
Increased levels of markers of vascular inflammation in patients with coronary heart disease
Scand J Clin Lab Invest, 62 (1), 59-68
DOI 10.1080/003655102753517217, PubMed 12002414

Publications 2001

Christensen B (2001)
Use of antibiotics to treat bacteriuria of pregnancy in the Nordic countries. Which antibiotics are appropriate to treat bacteriuria of pregnancy?
Int J Antimicrob Agents, 17 (4), 283-5
DOI 10.1016/s0924-8579(00)00349-6, PubMed 11295409

Christensen B, Mosdol A, Retterstol L, Landaas S, Thelle DS (2001)
Abstention from filtered coffee reduces the concentrations of plasma homocysteine and serum cholesterol--a randomized controlled trial
Am J Clin Nutr, 74 (3), 302-7
DOI 10.1093/ajcn/74.3.302, PubMed 11522552

Holven KB, Holm T, Aukrust P, Christensen B, Kjekshus J, Andreassen AK, Gullestad L, Hagve TA, Svilaas A, Ose L, Nenseter MS (2001)
Effect of folic acid treatment on endothelium-dependent vasodilation and nitric oxide-derived end products in hyperhomocysteinemic subjects
Am J Med, 110 (7), 536-42
DOI 10.1016/s0002-9343(01)00696-9, PubMed 11343667

Publications 2000

Christensen B (2000)
Which antibiotics are appropriate for treating bacteriuria in pregnancy?
J Antimicrob Chemother, 46 Suppl A, 29-34
DOI 10.1093/jac/46.suppl_1.29, PubMed 10969049

Christensen B, Blaas HG, Isaksen CV, Roald B, Orstavik KH (2000)
Sibs with anencephaly, anophthalmia, clefts, omphalocele, and polydactyly: hydrolethalus or acrocallosal syndrome?
Am J Med Genet, 91 (3), 231-4
DOI 10.1002/(sici)1096-8628(20000320)91:3<231::aid-ajmg15>3.0.co;2-w, PubMed 10756349

Omland T, Samuelsson A, Hartford M, Herlitz J, Karlsson T, Christensen B, Caidahl K (2000)
Serum homocysteine concentration as an indicator of survival in patients with acute coronary syndromes
Arch Intern Med, 160 (12), 1834-40
DOI 10.1001/archinte.160.12.1834, PubMed 10871978

Sibani S, Christensen B, O'Ferrall E, Saadi I, Hiou-Tim F, Rosenblatt DS, Rozen R (2000)
Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria
Hum Mutat, 15 (3), 280-7
DOI 10.1002/(SICI)1098-1004(200003)15:3<280::AID-HUMU9>3.0.CO;2-I, PubMed 10679944

Publications 1999

Christensen B, Arbour L, Tran P, Leclerc D, Sabbaghian N, Platt R, Gilfix BM, Rosenblatt DS, Gravel RA, Forbes P, Rozen R (1999)
Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects
Am J Med Genet, 84 (2), 151-7
DOI 10.1002/(sici)1096-8628(19990521)84:2<151::aid-ajmg12>3.0.co;2-t, PubMed 10323741

Christensen B, Landaas S, Stensvold I, Djurovic S, Retterstøl L, Ringstad J, Berg K, Thelle DS (1999)
Whole blood folate, homocysteine in serum, and risk of first acute myocardial infarction
Atherosclerosis, 147 (2), 317-26
DOI 10.1016/s0021-9150(99)00202-6, PubMed 10559518

Djurovic S, Thelle DS, Ringstad J, Christensen B, Berg K (1999)
Altered serum concentrations of TGF-beta 1 and Lp(a) lipoprotein and their correlation in patients with first acute myocardial infarction
Nutr Metab Cardiovasc Dis, 9 (5), 250-4
PubMed 10656172

Ma J, Stampfer MJ, Christensen B, Giovannucci E, Hunter DJ, Chen J, Willett WC, Selhub J, Hennekens CH, Gravel R, Rozen R (1999)
A polymorphism of the methionine synthase gene: association with plasma folate, vitamin B12, homocyst(e)ine, and colorectal cancer risk
Cancer Epidemiol Biomarkers Prev, 8 (9), 825-9
PubMed 10498402

Wilson A, Platt R, Wu Q, Leclerc D, Christensen B, Yang H, Gravel RA, Rozen R (1999)
A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida
Mol Genet Metab, 67 (4), 317-23
DOI 10.1006/mgme.1999.2879, PubMed 10444342

Publications 1998

Rand-Hendriksen S, Christensen B (1998)
[Magnetic tomography of the central nervous system in adults with myelomeningocele]
Tidsskr Nor Laegeforen, 118 (27), 4208-10
PubMed 9857803

Weisberg I, Tran P, Christensen B, Sibani S, Rozen R (1998)
A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity
Mol Genet Metab, 64 (3), 169-72
DOI 10.1006/mgme.1998.2714, PubMed 9719624

Publications 1997

Christensen B, Frosst P, Lussier-Cacan S, Selhub J, Goyette P, Rosenblatt DS, Genest J, Rozen R (1997)
Correlation of a common mutation in the methylenetetrahydrofolate reductase gene with plasma homocysteine in patients with premature coronary artery disease
Arterioscler Thromb Vasc Biol, 17 (3), 569-73
DOI 10.1161/01.atv.17.3.569, PubMed 9102178

Publications 1996

Goyette P, Christensen B, Rosenblatt DS, Rozen R (1996)
Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR
Am J Hum Genet, 59 (6), 1268-75
PubMed 8940272

Leclerc D, Campeau E, Goyette P, Adjalla CE, Christensen B, Ross M, Eydoux P, Rosenblatt DS, Rozen R, Gravel RA (1996)
Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders
Hum Mol Genet, 5 (12), 1867-74
DOI 10.1093/hmg/5.12.1867, PubMed 8968737

Publications 1995

Riudor E, Ribes A, Perez-Cerda C, Arranz JA, Mora J, Yeste D, Castello F, Christensen B, Sovik O (1995)
Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency
J Inherit Metab Dis, 18 (6), 748-9
DOI 10.1007/BF02436766, PubMed 8750614

Publications 1994

Christensen B, Guttormsen AB, Schneede J, Riedel B, Refsum H, Svardal A, Ueland PM (1994)
Preoperative methionine loading enhances restoration of the cobalamin-dependent enzyme methionine synthase after nitrous oxide anesthesia
Anesthesiology, 80 (5), 1046-56
DOI 10.1097/00000542-199405000-00014, PubMed 8017644

Christensen B, Rosenblatt DS, Chu RC, Ueland PM (1994)
Effect of methionine and nitrous oxide on homocysteine export and remethylation in fibroblasts from cystathionine synthase-deficient, cb1G, and cb1E patients
Pediatr Res, 35 (1), 3-9
DOI 10.1203/00006450-199401000-00002, PubMed 8134195

Fiskerstrand T, Christensen B, Tysnes OB, Ueland PM, Refsum H (1994)
Development and reversion of methionine dependence in a human glioma cell line: relation to homocysteine remethylation and cobalamin status
Cancer Res, 54 (18), 4899-906
PubMed 8069855

Publications 1993

Christensen B, Ueland PM (1993)
Methionine synthase inactivation by nitrous oxide during methionine loading of normal human fibroblasts. Homocysteine remethylation as determinant of enzyme inactivation and homocysteine export
J Pharmacol Exp Ther, 267 (3), 1298-303
PubMed 8263793

Warren DJ, Christensen B, Slørdal L (1993)
Effect of nitrous oxide on haematopoiesis in vitro: biochemical and functional features
Pharmacol Toxicol, 72 (1), 69-72
DOI 10.1111/j.1600-0773.1993.tb01342.x, PubMed 8441744

Publications 1991

Christensen B, Refsum H, Vintermyr O, Ueland PM (1991)
Homocysteine export from cells cultured in the presence of physiological or superfluous levels of methionine: methionine loading of non-transformed, transformed, proliferating, and quiescent cells in culture
J Cell Physiol, 146 (1), 52-62
DOI 10.1002/jcp.1041460108, PubMed 1990019

Garras A, Djurhuus R, Christensen B, Lillehaug JR, Ueland PM (1991)
A nonradioactive assay for N5-methyltetrahydrofolate-homocysteine methyltransferase (methionine synthase) based on o-phthaldialdehyde derivatization of methionine and fluorescence detection
Anal Biochem, 199 (1), 112-8
DOI 10.1016/0003-2697(91)90277-z, PubMed 1807154

Refsum H, Christensen B, Djurhuus R, Ueland PM (1991)
Interaction between methotrexate, "rescue" agents and cell proliferation as modulators of homocysteine export from cells in culture
J Pharmacol Exp Ther, 258 (2), 559-66
PubMed 1865358

Publications 1990

Ueland PM, Refsum H, Christensen B (1990)
Methotrexate sensitivity in Down's syndrome: a hypothesis
Cancer Chemother Pharmacol, 25 (5), 384-6
DOI 10.1007/BF00686245, PubMed 2137726