Publications by authors named "Benedicte Paus"

22Publications

Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome.

Brain Dev 2020 Aug 23;42(7):484-495. Epub 2020 Apr 23.

Gillberg Neuropsychiatry Centre, Sahlgrenska Academy, University of Gothenburg, Kungsgatan 12, 41119 Gothenburg, Sweden.

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August 2020

Diagnostics of Hereditary Connective Tissue Disorders by Genetic Next-Generation Sequencing.

Genet Test Mol Biomarkers 2019 Nov 22;23(11):783-790. Epub 2019 Oct 22.

Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.

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November 2019

Medical Issues in Adults with Rett Syndrome - A National Survey.

Dev Neurorehabil 2020 Feb 25;23(2):106-112. Epub 2019 Jul 25.

University of Gothenburg, Gothenburg, Sweden.

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February 2020

Dural ectasia in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up study.

Spine J 2019 08 15;19(8):1412-1421. Epub 2019 Apr 15.

Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway; Department of Radiology and Nuclear Medicine, Oslo University Hospital, Ullevål, PO BOX 4956 Nydalen, Oslo 0424, Norway.

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August 2019

Survival, causes of death, and cardiovascular events in patients with Marfan syndrome.

Mol Genet Genomic Med 2018 11 4;6(6):1114-1123. Epub 2018 Nov 4.

TRS, National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesoddtangen, Norway.

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November 2018

B. Paus responds

Authors:
Benedicte Paus

Tidsskr Nor Laegeforen 2018 10 15;138(16). Epub 2018 Oct 15.

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October 2018

De novo mutations in SCN1A are associated with classic Rett syndrome: a case report.

BMC Med Genet 2018 10 11;19(1):184. Epub 2018 Oct 11.

Gillberg Neuropsychiatric Centre, Sahlgrenska University of Gothenburg, Kungsgatan 12, 41119, Gothenburg, Sweden.

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October 2018

Perhaps test, often explore, always counsel.

Authors:
Benedicte Paus

Tidsskr Nor Laegeforen 2018 09 3;138(13). Epub 2018 Sep 3.

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September 2018

Epilepsy in classic Rett syndrome: Course and characteristics in adult age.

Epilepsy Res 2018 09 23;145:134-139. Epub 2018 Jun 23.

Department of Neurology and Clinical Neurophysiology, St. Olav's University Hospital, P.O. Box 3250, Torgarden, 7006, Trondheim, Norway; Department of Neuroscience, Norwegian University of Science and Technology, 7491, Trondheim, Norway. Electronic address:

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September 2018

Cardiovascular surgery in Loeys-Dietz syndrome types 1-4.

Eur J Cardiothorac Surg 2017 Dec;52(6):1125-1131

Department of Cardiothoracic Surgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway.

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December 2017

Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.

BMC Med Genet 2015 Dec 18;16:113. Epub 2015 Dec 18.

Department of Medical Genetics, Oslo University Hospital, Box 4950, 0424, Oslo, Norway.

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December 2015

[When we talk about genes].

Authors:
Benedicte Paus

Tidsskr Nor Laegeforen 2015 May 5;135(8):774-5. Epub 2015 May 5.

Oslo universitetssykehus og Universitetet i Oslo.

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May 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 2015 May;147(5):e166-e170

Department of Medical Genetics, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, Oslo University Hospital, Oslo, Norway.

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May 2015

Dietary aspects related to health and obesity in Williams syndrome, Down syndrome, and Prader-Willi syndrome.

Food Nutr Res 2015 3;59:25487. Epub 2015 Feb 3.

Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway.

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February 2015

Ocular findings in 87 adults with Ghent-1 verified Marfan syndrome.

Acta Ophthalmol 2015 Feb 22;93(1):46-53. Epub 2014 May 22.

Department of Ophthalmology, Oslo University Hospital, Oslo, Norway; University of Oslo, Oslo, Norway.

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February 2015

Accelerometer-determined physical activity and walking capacity in persons with Down syndrome, Williams syndrome and Prader-Willi syndrome.

Res Dev Disabil 2013 Dec 18;34(12):4395-403. Epub 2013 Oct 18.

Frambu Resource Centre for Rare Disorders, Sandbakkveien 18, 1404 Siggerud, Norway; University of Oslo, Institute of Basic Medical Sciences, Department of Nutrition, P.O. Box 1046, Blindern, 0317 Oslo, Norway. Electronic address:

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December 2013

Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome.

Eur J Hum Genet 2009 Oct 18;17(10):1222-30. Epub 2009 Mar 18.

TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesoddtangen, Norway.

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October 2009

[Ehlers-Danlos syndrome--diagnosis and subclassification].

Tidsskr Nor Laegeforen 2006 Aug;126(15):1903-7

TRS-kompetansesenter for sjeldne diagnoser, Sunnaas sykehus.

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August 2006