Benedicte Paus

Bilde av Benedicte Paus
English version of this page
Mobiltelefon +47 91323334
Brukernavn
Besøksadresse 0373 Oslo Forskningsveien 2B
Postadresse Postboks 4956 Nydalen OUS HF Ullevål sykehus 0424 Oslo
Emneord: Genetiske bindevevsykdommer, Genetikk, Sjeldne genetiske tilstander

Publikasjoner

  • Seim, Bjørn Edvard; Holt, Margrethe Flesvig; Ratajska, Aleksandra; Michelsen, Annika Elisabet; Ringseth, Monica Myklebust & Halvorsen, Bente [Vis alle 14 forfattere av denne artikkelen] (2022). Markers of extracellular matrix remodeling and systemic inflammation in patients with heritable thoracic aortic diseases. Frontiers in Cardiovascular Medicine. ISSN 2297-055X. 9, s. 1–9. doi: 10.3389/fcvm.2022.1073069. Fulltekst i vitenarkiv
  • Ratajska, Aleksandra; Vigeland, Magnus Dehli; Wirgenes, Katrine Verena; Krohg-Sørensen, Kirsten & Paus, Benedicte (2022). The use of segregation analysis in interpretation of sequence variants in SMAD3: A case report. Molecular Genetics & Genomic Medicine. ISSN 2324-9269. doi: 10.1002/mgg3.2107. Fulltekst i vitenarkiv
  • Gjersvik, Petter & Paus, Benedicte (2021). Mutasjoner som endrer proteinets funksjon. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 141(12), s. 1–4. doi: 10.4045/tidsskr.21.0377.
  • Henriksen, Mari Wold; Breck, Hilde; Sejersted, Yngve; Diseth, Trond H; von Tetzchner, Stephen & Paus, Benedicte [Vis alle 7 forfattere av denne artikkelen] (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. Fulltekst i vitenarkiv
  • Henriksen, Mari Wold; Breck, Hilde; von Tetzchner, Stephen; Paus, Benedicte & Skjeldal, Ola, Hunsbeth (2020). 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.
  • Vanem, Thy Thy; Böker, Tordis; Sandvik, Gunhild Falleth; Kirkhus, Eva Astrid; Smith, Hans-Jørgen & Andersen, Kai [Vis alle 13 forfattere av denne artikkelen] (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
  • 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
  • Böker, Tordis; Vanem, Thy Thy; Pripp, Are Hugo; Rand-Hendriksen, Svend; Paus, Benedicte & Smith, Hans-Jørgen [Vis alle 7 forfattere av denne artikkelen] (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
  • 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.
  • 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
  • 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
  • Riise, Nina; Lindberg, Bjørn; Kulseth, Mari Ann; Fredwall, Svein Otto; Lundby, Rigmor & Estensen, Mette-Lise [Vis alle 10 forfattere av denne artikkelen] (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
  • 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
  • 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.
  • Tjeldhorn, Lena; Amundsen, Svanstrøm Silja; Barøy, Tuva; Rand-Hendriksen, Svend; Geiran, Odd & Frengen, Eirik [Vis alle 7 forfattere av denne artikkelen] (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; 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 (FNR). ISSN 1654-6628. 59(25847). doi: 10.3402/fnr.v59.25487.
  • 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; 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 [Vis alle 19 forfattere av denne artikkelen] (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). B. Paus svarer. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 138(16), s. 1502–1503. doi: 10.4045/tidsskr.18.0735.
  • 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