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Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
Tangeraas T, Sæves I, Klingenberg C, Jørgensen J, Kristensen E, Gunnarsdottir G, Hansen EV, Strand J, Lundman E, Ferdinandusse S, Salvador CL, Woldseth B, Bliksrud YT, Sagredo C, Olsen ØE, Berge MC, Trømborg AK, Ziegler A, Zhang JH, Sørgjerd LK, Ytre-Arne M, Hogner S, Løvoll SM, Kløvstad Olavsen MR, Navarrete D, Gaup HJ, Lilje R, Zetterström RH, Stray-Pedersen A, Rootwelt T, Rinaldo P, Rowe AD, Pettersen RD. Tangeraas T, et al. Int J Neonatal Screen. 2020 Jun 27;6(3):51. doi: 10.3390/ijns6030051. eCollection 2020 Sep. Int J Neonatal Screen. 2020. PMID: 33123633 Free PMC article.
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.
Strand J, Gul KA, Erichsen HC, Lundman E, Berge MC, Trømborg AK, Sørgjerd LK, Ytre-Arne M, Hogner S, Halsne R, Gaup HJ, Osnes LT, Kro GAB, Sorte HS, Mørkrid L, Rowe AD, Tangeraas T, Jørgensen JV, Alme C, Bjørndalen TEH, Rønnestad AE, Lang AM, Rootwelt T, Buechner J, Øverland T, Abrahamsen TG, Pettersen RD, Stray-Pedersen A. Strand J, et al. Front Immunol. 2020 Jul 9;11:1417. doi: 10.3389/fimmu.2020.01417. eCollection 2020. Front Immunol. 2020. PMID: 32754152 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 33239577
[No title available]
[No authors listed] [No authors listed] PMID: 34480031
Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A.
Almaas R, Atneosen-Åsegg M, Ytre-Arne ME, Melheim M, Sorte HS, Cízková D, Reims HM, Bezrouk A, Harrison SP, Strand J, Hermansen JU, Andersen SS, Eiklid KL, Mokrý J, Sullivan GJ, Stray-Pedersen A. Almaas R, et al. Among authors: stray pedersen a. J Hepatol. 2023 Oct;79(4):945-954. doi: 10.1016/j.jhep.2023.05.037. Epub 2023 Jun 14. J Hepatol. 2023. PMID: 37328071 Free article.
A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT.
Jørgensen SF, Buechner J, Myhre AE, Galteland E, Spetalen S, Kulseth MA, Sorte HS, Holla ØL, Lundman E, Alme C, Heier I, Flægstad T, Fløisand Y, Benneche A, Fevang B, Aukrust P, Stray-Pedersen A, Gedde-Dahl T, Nordøy I. Jørgensen SF, et al. J Clin Immunol. 2022 Feb;42(2):404-420. doi: 10.1007/s10875-021-01189-y. Epub 2021 Dec 10. J Clin Immunol. 2022. PMID: 34893945 Free PMC article.
Primary immunodeficiency diseases in Norway.
Stray-Pedersen A, Abrahamsen TG, Frøland SS. Stray-Pedersen A, et al. J Clin Immunol. 2000 Nov;20(6):477-85. doi: 10.1023/a:1026416017763. J Clin Immunol. 2000. PMID: 11202238
[Patients with severe chronic neutropenia].
Amundsen HF, Stray-Pedersen A, Tjønnfjord GE, Abrahamsen TG. Amundsen HF, et al. Tidsskr Nor Laegeforen. 2003 Mar 6;123(5):621-3. Tidsskr Nor Laegeforen. 2003. PMID: 12683187 Free article. Norwegian. No abstract available.
126 results