Benedicte Paus

  • Group leader
  • +47 230 75717
 

Author network for Benedicte Paus by COREMINE medical


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

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

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

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 (in press)
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

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

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

Page visits: 1285