Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Janne Strand"'
Autor:
Silje Hogner, Emma Lundman, Janne Strand, Mari Eknes Ytre-Arne, Trine Tangeraas, Asbjørg Stray-Pedersen
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 4, p 67 (2023)
In the Norwegian newborn screening (NBS) program, genetic testing has been implemented as a second or third tier method for the majority of NBS disorders, significantly increasing positive predictive value (PPV). DNA is extracted from dried blood spo
Externí odkaz:
https://doaj.org/article/5e14dcfec2c94ceb913814c68573a21c
Autor:
Janne Strand, Kiran Aftab Gul, Hans Christian Erichsen, Emma Lundman, Mona C. Berge, Anette K. Trømborg, Linda K. Sørgjerd, Mari Ytre-Arne, Silje Hogner, Ruth Halsne, Hege Junita Gaup, Liv T. Osnes, Grete A. B. Kro, Hanne S. Sorte, Lars Mørkrid, Alexander D. Rowe, Trine Tangeraas, Jens V. Jørgensen, Charlotte Alme, Trude E. H. Bjørndalen, Arild E. Rønnestad, Astri M. Lang, Terje Rootwelt, Jochen Buechner, Torstein Øverland, Tore G. Abrahamsen, Rolf D. Pettersen, Asbjørg Stray-Pedersen
Publikováno v:
Frontiers in Immunology, Vol 11 (2020)
Severe combined immunodeficiency (SCID) and other T cell lymphopenias can be detected during newborn screening (NBS) by measuring T cell receptor excision circles (TRECs) in dried blood spot (DBS) DNA. Second tier next generation sequencing (NGS) wit
Externí odkaz:
https://doaj.org/article/634d7c285f864c7781322eb1360b861b
Autor:
Trine Tangeraas, Ingjerd Sæves, Claus Klingenberg, Jens Jørgensen, Erle Kristensen, Gunnþórunn Gunnarsdottir, Eirik Vangsøy Hansen, Janne Strand, Emma Lundman, Sacha Ferdinandusse, Cathrin Lytomt Salvador, Berit Woldseth, Yngve T. Bliksrud, Carlos Sagredo, Øyvind E. Olsen, Mona C. Berge, Anette Kjoshagen Trømborg, Anders Ziegler, Jin Hui Zhang, Linda Karlsen Sørgjerd, Mari Ytre-Arne, Silje Hogner, Siv M. Løvoll, Mette R. Kløvstad Olavsen, Dionne Navarrete, Hege J. Gaup, Rina Lilje, Rolf H. Zetterström, Asbjørg Stray-Pedersen, Terje Rootwelt, Piero Rinaldo, Alexander D. Rowe, Rolf D. Pettersen
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 3, p 51 (2020)
In 2012, the Norwegian newborn screening program (NBS) was expanded (eNBS) from screening for two diseases to that for 23 diseases (20 inborn errors of metabolism, IEMs) and again in 2018, to include a total of 25 conditions (21 IEMs). Between 1 Marc
Externí odkaz:
https://doaj.org/article/ee83f4da7b56404183a2012eb12ea9e8
Publikováno v:
Pediatric Cardiology
In the fetus, the cardiac neural crest gives rise to both the thymus and the conotruncus of the heart. In newborn screening for severe T-cell lymphopenia neonates with congenital heart defects may be detected. In this study, we investigated the occur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be079a5339ace6248ed008642b67921f
https://doi.org/10.1007/s00246-020-02317-y
https://doi.org/10.1007/s00246-020-02317-y
Autor:
C Trier, Janne Strand, Asbjørg Stray-Pedersen, G Fournous, Alexander D. Rowe, Rolf D. Pettersen
Publikováno v:
NPJ Genomic Medicine
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-10 (2020)
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-10 (2020)
Newborn screening programs are an integral part of public health systems aiming to save lives and improve the quality of life for infants with treatable disorders. Technological advancements have driven the expansion of newborn screening programs in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23283a62457ece3fd6ed46f230557af8
https://doi.org/10.1038/s41525-020-00142-z
https://doi.org/10.1038/s41525-020-00142-z
Autor:
Dionne Navarrete, Carlos Sagredo, Terje Rootwelt, Linda Karlsen Sørgjerd, Asbjørg Stray-Pedersen, Cathrin Lytomt Salvador, Janne Strand, Anette Kjoshagen Trømborg, Ingjerd Sæves, Gunnþórunn Gunnarsdottir, Hege Junita Gaup, Rolf D. Pettersen, Mona C. Berge, Mette R. Kløvstad Olavsen, Piero Rinaldo, Berit Woldseth, Trine Tangeraas, Rolf Zetterström, Anders Ziegler, Jens V. Jørgensen, Eirik Vangsøy Hansen, Silje Hogner, Yngve Thomas Bliksrud, Mari Ytre-Arne, Erle Kristensen, Siv M. Løvoll, R. Lilje, E. Lundman, Alexander D. Rowe, Claus Klingenberg, Jin Hui Zhang, Øyvind E. Olsen, Sacha Ferdinandusse
Publikováno v:
International Journal of Neonatal Screening
International Journal of Neonatal Screening, Vol 6, Iss 51, p 51 (2020)
International Journal of Neonatal Screening, 6(3):51. MDPI Multidisciplinary Digital Publishing Institute
Volume 6
Issue 3
International Journal of Neonatal Screening, Vol 6, Iss 51, p 51 (2020)
International Journal of Neonatal Screening, 6(3):51. MDPI Multidisciplinary Digital Publishing Institute
Volume 6
Issue 3
In 2012, the Norwegian newborn screening program (NBS) was expanded (eNBS) from screening for two diseases to that for 23 diseases (20 inborn errors of metabolism, IEMs) and again in 2018, to include a total of 25 conditions (21 IEMs). Between 1 Marc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::572514e14b18d1cd463babf6d8421538
https://doi.org/10.3390/ijns6030051
https://doi.org/10.3390/ijns6030051
Autor:
Sand, Anne-Marthe Urdal, Talsethagen, Marian Syse, Grabner, Nina Holte, Lans, Per Johan, Hermansen, Janne Strand, Skogen, Ruth Beate, Solhjell, Kari Kittang
Publikováno v:
Sand, Anne-Marthe Urdal, , , , , , Talsethagen, Marian Syse, , , , , , Grabner, Nina Holte, , , , , , Lans, Per Johan, , , , , , Hermansen, Janne Strand, , , , , , Skogen, Ruth Beate, , , , , , Solhjell, Kari Kittang, , , , , , . Diagnostikk av bakteriell vaginose i allmennpraksis. Prosjektoppgave, University of Oslo, 2009
Externí odkaz:
http://hdl.handle.net/10852/29977
https://www.duo.uio.no/bitstream/handle/10852/29977/2/gr13_sand_v04.pdf
https://www.duo.uio.no/bitstream/handle/10852/29977/2/gr13_sand_v04.pdf
Autor:
Hermansen, Janne Strand
Publikováno v:
Hermansen, Janne Strand. Langsiktige bivirkninger av glukokortikotider brukt på barn over lang tid med spesiell vekt på lav benmineraltetthet og hemmet vekst. Prosjektoppgave, University of Oslo, 2009
Externí odkaz:
http://hdl.handle.net/10852/28928
https://www.duo.uio.no/bitstream/handle/10852/28928/2/prosjektxhermansen.pdf
https://www.duo.uio.no/bitstream/handle/10852/28928/2/prosjektxhermansen.pdf
Autor:
Else Brodtkorb, Magnar Bjørås, Paul Hoff Backe, Berit Woldseth, Helge Rootwelt, Lars Eide, Terje Rootwelt, Janne Strand, Anne Marie Lund
Publikováno v:
Molecular Genetics and Metabolism. 100:324-332
Maple syrup urine disease (MSUD) is caused by a defect in branched chain alpha-ketoacid dehydrogenase complex (BCKD), an essential metabolon for the catabolism of the branched chain amino acids. Here, we report four novel mutations in the DBT gene, e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33e6122e7138ca9608df1501cc2ee6e4
https://doi.org/10.1016/j.ymgme.2010.04.017
https://doi.org/10.1016/j.ymgme.2010.04.017