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Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.
Strand, Janne; Gul, Kiran Aftab; Erichsen, Hans Christian; Lundman, Emma; Berge, Mona C; Trømborg, Anette K; Sørgjerd, Linda K; Ytre-Arne, Mari; Hogner, Silje; Halsne, Ruth; Gaup, Hege Junita; Osnes, Liv T; Kro, Grete A B; Sorte, Hanne S; Mørkrid, Lars; Rowe, Alexander D; Tangeraas, Trine; Jørgensen, Jens V; Alme, Charlotte; Bjørndalen, Trude E H; Rønnestad, Arild E; Lang, Astri M; Rootwelt, Terje; Buechner, Jochen; Øverland, Torstein; Abrahamsen, Tore G; Pettersen, Rolf D; Stray-Pedersen, Asbjørg.
Afiliación
  • Strand J; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Gul KA; Paediatric Research Institute, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Erichsen HC; Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Lundman E; Division of Paediatric and Adolescent Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
  • Berge MC; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Trømborg AK; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Sørgjerd LK; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Ytre-Arne M; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Hogner S; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Halsne R; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Gaup HJ; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Osnes LT; Department of Forensic Biology, Oslo University Hospital, Oslo, Norway.
  • Kro GAB; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Sorte HS; Department of Immunology and Transfusion Medicine, Oslo University Hospital, Oslo, Norway.
  • Mørkrid L; Department of Microbiology, Oslo University Hospital, Oslo, Norway.
  • Rowe AD; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Tangeraas T; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.
  • Jørgensen JV; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Alme C; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Bjørndalen TEH; Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Rønnestad AE; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Lang AM; Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Rootwelt T; Department of Paediatric Haematology, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Buechner J; Department of Obstetrics and Gynaecology, Oslo University Hospital, Oslo, Norway.
  • Øverland T; Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Abrahamsen TG; Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Pettersen RD; Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Stray-Pedersen A; Division of Paediatric and Adolescent Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Front Immunol ; 11: 1417, 2020.
Article en En | MEDLINE | ID: mdl-32754152
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Biomarcadores / Tamizaje Neonatal / Inmunodeficiencia Combinada Grave / Secuenciación de Nucleótidos de Alto Rendimiento / Pruebas con Sangre Seca Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Screening_studies Límite: Female / Humans / Male / Newborn Idioma: En Revista: Front Immunol Año: 2020 Tipo del documento: Article País de afiliación: Noruega
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Biomarcadores / Tamizaje Neonatal / Inmunodeficiencia Combinada Grave / Secuenciación de Nucleótidos de Alto Rendimiento / Pruebas con Sangre Seca Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Screening_studies Límite: Female / Humans / Male / Newborn Idioma: En Revista: Front Immunol Año: 2020 Tipo del documento: Article País de afiliación: Noruega