Benedicte Paus

Bilde av Benedicte Paus
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Mobiltelefon +4791323334 +47 91323334
Brukernavn
Besøksadresse 0373 Oslo Forskningsveien 2B
Postadresse Postboks 4956 Nydalen 0424 OSLO
Emneord: Genetiske bindevevsykdommer, Genetikk, Sjeldne genetiske tilstander

Publikasjoner

  • Henriksen, Mari Wold; Breck, Hilde; Sejersted, Yngve; Diseth, Trond H; von Tetzchner, Stephen; Paus, Benedicte & Skjeldal, Ola, Hunsbeth (2020). Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome. Brain & development (Tokyo. 1979).  ISSN 0387-7604.  42(7), s 484- 495 . doi: 10.1016/j.braindev.2020.03.008 Vis sammendrag
  • Böker, Tordis; Vanem, Thy Thy; Pripp, Are Hugo; Rand-Hendriksen, Svend; Paus, Benedicte; Smith, Hans-Jørgen & Lundby, Rigmor (2019). Dural ectasia in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up study. The spine journal.  ISSN 1529-9430.  19(8), s 1412- 1421 . doi: 10.1016/j.spinee.2019.04.010 Fulltekst i vitenarkiv.
  • Henriksen, Mari Wold; Breck, Hilde; von Tetzchner, Stephen; Paus, Benedicte & Skjeldal, Ola, Hunsbeth (2019). Medical Issues in Adults with Rett Syndrome – A National Survey. Developmental Neurorehabilitation.  ISSN 1751-8423.  23(2), s 106- 112 . doi: 10.1080/17518423.2019.1646341 Vis sammendrag
  • Pope, Marita Knudsen; Ratajska, Aleksandra; Johnsen, Hilde; Rypdal, Karoline Bjarnesdatter; Sejersted, Yngve & Paus, Benedicte (2019). Diagnostics of Hereditary Connective Tissue Disorders by Genetic Next-Generation Sequencing. Genetic Testing and Molecular Biomarkers.  ISSN 1945-0265.  23(11), s 783- 790 . doi: 10.1089/gtmb.2019.0064 Fulltekst i vitenarkiv. Vis sammendrag
  • Vanem, Thy Thy; Böker, Tordis; Sandvik, Gunhild Falleth; Kirkhus, Eva Astrid; Smith, Hans-Jørgen; Andersen, Kai; Drolsum, Liv; Lundby, Rigmor; Røe, Cecilie; Krohg-Sørensen, Kirsten; Geiran, Odd; Paus, Benedicte & Rand-Hendriksen, Svend (2019). Marfan syndrome: Evolving organ manifestations-A 10-year follow-up study.. American Journal of Medical Genetics. Part A.  ISSN 1552-4825.  182(2), s 397- 408 . doi: 10.1002/ajmg.a.61441 Fulltekst i vitenarkiv.
  • Henriksen, Mari Wold; Breck, Hilde; von Tetzchner, Stephen; Paus, Benedicte; Skjeldal, Ola & Brodtkorb, Eylert (2018). Epilepsy in classic Rett syndrome: Course and characteristics in adult age. Epilepsy Research.  ISSN 0920-1211.  145, s 134- 139 . doi: 10.1016/j.eplepsyres.2018.06.012 Fulltekst i vitenarkiv.
  • Henriksen, Mari Wold; Ravn, Kirstine; Paus, Benedicte; von Tetzchner, Stephen & Skjeldal, Ola (2018). De novo mutations in SCN1A are associated with classic Rett syndrome: A case report. BMC Medical Genetics.  ISSN 1471-2350.  19(184), s 1- 5 . doi: 10.1186/s12881-018-0700-z Fulltekst i vitenarkiv.
  • Paus, Benedicte (2018). Kanskje teste, ofte utrede, alltid veilede. Tidsskrift for Den norske legeforening.  ISSN 0029-2001.  138(13), s 1- 3 . doi: 10.4045/tidsskr.18.0574
  • Riise, Nina; Lindberg, Bjørn; Kulseth, Mari Ann; Fredwall, Svein Otto; Lundby, Rigmor; Estensen, Mette-Lise; Drolsum, Liv; Merckoll, Else; Krohg-Sørensen, Kirsten & Paus, Benedicte (2018). Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report. BMC Medical Genetics.  ISSN 1471-2350.  19(155), s 1- 7 . doi: 10.1186/s12881-018-0671-0 Fulltekst i vitenarkiv.
  • Vanem, Thy Thy; Geiran, Odd; Krohg-Sørensen, Kirsten; Røe, Cecilie; Paus, Benedicte & Rand-Hendriksen, Svend (2018). Survival, causes of death, and cardiovascular events in patients with Marfan syndrome. Molecular Genetics & Genomic Medicine.  ISSN 2324-9269.  6(6), s 1114- 1123 . doi: 10.1002/mgg3.489 Fulltekst i vitenarkiv.
  • Krohg-Sørensen, Kirsten; Lingaas, Per Snorre; Lundblad, Runar; Seem, Egil; Paus, Benedicte & Geiran, Odd (2017). Cardiovascular surgery in Loeys-Dietz syndrome types 1-4. Journal of Cardiothoracic Surgery.  ISSN 1749-8090.  52(6), s 1125- 1131 . doi: 10.1093/ejcts/ezx147
  • Nordstrøm, Marianne; Paus, Benedicte; Retterstøl, Kjetil & Kolset, Svein Olav (2016). The prevalence of metabolic risk factors of atherosclerotic cardiovascular disease in Williams syndrome, Prader–Willi syndrome, and Down syndrome. Journal of Intellectual & Developmental Disability.  ISSN 1366-8250.  41(3), s 187- 196 . doi: 10.3109/13668250.2016.1167845
  • Abrahamsen, Bjørg Johanne; Kulseth, Mari Ann & Paus, Benedicte (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.  ISSN 0012-3692.  147(5), s e166- e170 . doi: 10.1378/chest.13-3002
  • Drolsum, Liv; Rand-Hendriksen, Svend; Paus, Benedicte; Geiran, Odd & Semb, Svein Ove (2015). Ocular findings in 87 adults with Ghent-1 verified Marfan syndrome. Acta Ophthalmologica.  ISSN 1755-375X.  93(1), s 46- 53 . doi: 10.1111/aos.12448 Fulltekst i vitenarkiv.
  • Nordstrøm, Marianne; Paus, Benedicte; Andersen, Lene Frost & Kolset, Svein Olav (2015). Dietary aspects related to health and obesity in Williams syndrome, Down syndrome, and Prader - Willi syndrome :. Food & Nutrition Research.  ISSN 1654-6628.  59(25847) . doi: 10.3402/fnr.v59.25487
  • Tjeldhorn, Lena; Amundsen, Svanstrøm Silja; Barøy, Tuva; Rand-Hendriksen, Svend; Geiran, Odd; Frengen, Eirik & Paus, Benedicte (2015). Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome. BMC Medical Genetics.  ISSN 1471-2350.  16(113) . doi: 10.1186/s12881-015-0260-4
  • Nordstrøm, Marianne; Hansen, Bjørge Hermann; Paus, Benedicte & Kolset, Svein Olav (2013). Accelerometer-determined physical activity and walking capacity in persons with Down syndrome, Williams syndrome and Prader-Willi syndrome. Research in Developmental Disabilities.  ISSN 0891-4222.  34(12), s 4395- 4403 . doi: 10.1016/j.ridd.2013.09.021

Se alle arbeider i Cristin

  • Bratlie, Sigrid; Halvorsen, Kristin; Myskja, Bjørn Kåre; Mellegård, Hilde; Bjorvatn, Cathrine; Frost, Petter; Heiene, Gunnar Harald; Hofmann, Bjørn Morten; Holst-Jensen, Arne; Holst-Larsen, Torolf; Malnes, Raino Sverre; Paus, Benedicte; Sandvig, Bente; Sjøli, Sonja Irene; Skarstein, Birgit; Thorseth, May Britt; Vagstad, Nils; Våge, Dag Inge & Borge, Ole Johan (2019). A novel governance framework for GMO : a tiered, more flexible regulation for GMOs would help to stimulate innovation and public debate. EMBO Reports.  ISSN 1469-221X.  20(5), s 1- 4 . doi: 10.15252/embr.201947812 Fulltekst i vitenarkiv.
  • Paus, Benedicte (2018). Kanskje teste, ofte utrede, alltid veilede. Tidsskrift for Den norske legeforening.  ISSN 0029-2001.  138(13), s 1211- 1211

Se alle arbeider i Cristin

Publisert 9. jan. 2013 09:44 - Sist endret 24. mai 2013 10:16