Resultats de la cerca - Asbjørg Stray‐Pedersen

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  1. 1
    Primary immunodeficiency diseases in Norway.

    Primary immunodeficiency diseases in Norway. per Asbjørg Stray‐Pedersen

    Publicat 2000
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  2. 2
    Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

    Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study per Anne Kjersti Erichsen, Jeanette Koht, Asbjørg Stray‐Pedersen, Michael Abdelnoor, Chantal Tallaksen

    Publicat 2009
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  3. 3
    Identification of copy number variants from exome sequence data

    Identification of copy number variants from exome sequence data per Pubudu Samarakoon, Hanne Sørmo Sorte, Bjørn E. Kristiansen, Tove Skodje, Ying Sheng, Geir E. Tjønnfjord, Barbro Stadheim, Asbjørg Stray‐Pedersen, Olaug K. Rødningen, Robert Lyle

    Publicat 2014
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  4. 4
    Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development

    Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development per Marc A. Gavin, Troy R. Torgerson, Evan Houston, Paul deRoos, William Ho, Asbjørg Stray‐Pedersen, Elizabeth Ocheltree, Philip D. Greenberg, Hans D. Ochs, Alexander Y. Rudensky

    Publicat 2006
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  5. 5
    Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies

    Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies per Alexej Knaus, Fanny Kortüm, Tjitske Kleefstra, Asbjørg Stray‐Pedersen, Dejan Đukić, Yoshiko Murakami, Thorsten Gerstner, Hans van Bokhoven, Zafar Iqbal, Denise Horn, Taroh Kinoshita, Maja Hempel, Peter Krawitz

    Publicat 2019
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  6. 6
    Long‐Term Nicotinamide Riboside Use Improves Coordination and Eye Movements in Ataxia Telangiectasia

    Long‐Term Nicotinamide Riboside Use Improves Coordination and Eye Movements in Ataxia Telangiectasia per Rebecca Presterud, Wei Hai Deng, A.B. Wennerström, Trudy Burgers, Bharat Gajera, Karen I. Mattsson, Agnes Solberg, Evandro Fei Fang, Anni I. Nieminen, Asbjørg Stray‐Pedersen, Hilde Nilsen

    Publicat 2023
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  7. 7
    A Dominant STIM1 Mutation Causes Stormorken Syndrome

    A Dominant STIM1 Mutation Causes Stormorken Syndrome per Doriana Misceo, Asbjørn Holmgren, William E. Louch, Pål André Holme, Masahiro Mizobuchi, Raúl Juntas Morales, A. Maues de Paula, Asbjørg Stray‐Pedersen, Robert Lyle, Bjørn Dalhus, Geir Christensen, Helge Stormorken, Geir E. Tjønnfjord, Eirik Frengen

    Publicat 2014
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  8. 8
    A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

    A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy per Svein I. Støve, Marina Blenski, Asbjørg Stray‐Pedersen, Klaas J. Wierenga, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, David L. Crawford, Nina McTiernan, Line M. Myklebust, Gabriela Purcarin, René McNall-Knapp, Alexandrea Wadley, John W. Belmont, Jeffrey Kim, James R. Lupski, Thomas Arnesen

    Publicat 2018
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  9. 9
    Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up

    Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up per Panagiotis Baliakas, Bianca Tesi, Ulla Wartiovaara‐Kautto, Asbjørg Stray‐Pedersen, Lone Smidstrup Friis, Ingunn Dybedal, Randi Hovland, Kirsi Jahnukainen, Klas Raaschou‐Jensen, Per Ljungman, Cecilie F. Rustad, Charlotte Kvist Lautrup, Outi Kilpivaara, Astrid Olsnes Kittang, Kirsten Grønbæk, Jörg Cammenga, Eva Hellström‐Lindberg, Mette Klarskov Andersen

    Publicat 2019
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  10. 10
    Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

    Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability per Asbjørg Stray‐Pedersen, Jan-Maarten Cobben, Trine Prescott, Sora Lee, Chunlei Cang, Kimberly Aranda, Sohnee Ahmed, Mariëlle Alders, Thorsten Gerstner, Kathinka Aslaksen, Martine Tétreault, Wen Qin, Taila Hartley, Shalini N. Jhangiani, Donna M. Muzny, Maja Tarailo‐Graovac, Clara van Karnebeek, James R. Lupski, Dejian Ren, Grace Yoon

    Publicat 2015
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  11. 11
    Long-term safety of dexamethasone sodium phosphate encapsulated in autologous erythrocytes in pediatric patients with ataxia telangiectasia

    Long-term safety of dexamethasone sodium phosphate encapsulated in autologous erythrocytes in pediatric patients with ataxia telangiectasia per Mary Kay Koenig, Vincenzo Leuzzi, Riadh Gouider, Eppie M. Yiu, Barbara Pietrucha, Asbjørg Stray‐Pedersen, Susan Perlman, Steve W. Wu, Trudy Burgers, Rupam Borgohain, Rukmini Mridula Kandadai, Isabelle Meyts, Giorgia Bucciol, Anaita Hegde, Ravi Yadav, Donna Roberts, Aaron Dane, Maureen Roden, Dirk Thye, Biljana Horn, Howard M. Lederman, William Whitehouse

    Publicat 2025
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  12. 12
    Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy

    Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tu... per Asbjørg Stray‐Pedersen, Emmanuelle Jouanguy, Amandine Créquer, Alison A. Bertuch, Betty S. Brown, Shalini N. Jhangiani, Donna M. Muzny, Tomasz Gambin, Hanne Sørmo Sorte, Ghadir Sasa, Denise W. Metry, Judith Campbell, Marianna Sockrider, Megan K. Dishop, David M. Scollard, Richard A. Gibbs, Emily M. Mace, Jordan S. Orange, James R. Lupski, Jean‐Laurent Casanova, Lenora M. Noroski

    Publicat 2014
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  13. 13
    A potential founder variant in<i>CARMIL2/RLTPR</i>in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction

    A potential founder variant in<i>CARMIL2/RLTPR</i>in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction per Hanne Sørmo Sorte, Liv Osnes, Børre Fevang, Pål Aukrust, Hans Christian Erichsen, Paul Hoff Backe, Tore G. Abrahamsen, Ole Bjørn Kittang, Torstein Øverland, Shalini N. Jhangiani, Donna M. Muzny, Magnus Dehli Vigeland, Pubudu Samarakoon, Tomasz Gambin, Zeynep H. Coban Akdemir, Richard A. Gibbs, Olaug K. Rødningen, Robert Lyle, James R. Lupski, Asbjørg Stray‐Pedersen

    Publicat 2016
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  14. 14
    Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes

    Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes per Maximilian Witzel, Daniel Petersheim, Yanxin Fan, Ehsan Bahrami, Tomáš Raček, Meino Rohlfs, Jacek Puchałka, Christian Mertes, Julien Gagneur, Christoph Ziegenhain, Wolfgang Enard, Asbjørg Stray‐Pedersen, Peter D. Arkwright, Miguel R. Abboud, Vahid Pazhakh, Graham J. Lieschke, Peter Krawitz, Maik Dahlhoff, Marlon R. Schneider, Eckhard Wolf, Hans-Peter Horny, Heinrich Schmidt, Alejandro A. Schäffer, Christoph Klein

    Publicat 2017
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  15. 15
    Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

    Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort per Tomasz Gambin, Zeynep Coban‐Akdemir, Bo Yuan, Shen Gu, Theodore Chiang, Claudia M.B. Carvalho, Chad A. Shaw, Shalini N. Jhangiani, Philip M. Boone, Mohammad K. Eldomery, Ender Karaca, Yavuz Bayram, Asbjørg Stray‐Pedersen, Donna M. Muzny, Wu‐Lin Charng, Vahid Bahrambeigi, John W. Belmont, Eric Boerwinkle, Arthur L. Beaudet, Richard A. Gibbs, James R. Lupski

    Publicat 2016
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  16. 16
    Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in <i>IL 7 R</i> detected by tandem whole exome sequencing and chromosomal microarray

    Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in <i>IL 7 R</i> detected by tandem whole ex... per Diana K. Bayer, Caridad Martinez, Hanne Sørmo Sorte, Lisa R. Forbes, Gail J. Demmler‐Harrison, I. Celine Hanson, Nathaniel M. Pearson, Lenora M. Noroski, Sherif R. Zaki, William J. Bellini, Magalie S. Leduc, Yuan Yang, Christine M. Eng, Ankita Patel, Olaug K. Rødningen, Donna M. Muzny, Richard A. Gibbs, Ian M. Campbell, Chad A. Shaw, Mei Baker, V Zhang, James R. Lupski, Jordan S. Orange, Filiz O. Seeborg, Asbjørg Stray‐Pedersen

    Publicat 2014
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  17. 17
    Update on Kleefstra Syndrome

    Update on Kleefstra Syndrome per Marjolein H. Willemsen, Anneke T. Vulto‐van Silfhout, Willy M. Nillesen, W.M. Wissink-Lindhout, Hans van Bokhoven, N. Philip, Elizabeth Berry‐Kravis, Usha Kini, Conny M.A. van Ravenswaaij‐Arts, Barbara Delle Chiaie, A. Micheil Innes, Gunnar Houge, T Kosonen, Kirsten Cremer, Madeleine Fannemel, Asbjørg Stray‐Pedersen, William Reardon, Jaakko Ignatius, Katherine Lachlan, Clotilde Mircher, P.T.J.M. Helderman van den Enden, Mathilde Mastebroek, Petra E. Cohn‐Hokke, Helger G. Yntema, Séverine Drunat, Tjitske Kleefstra

    Publicat 2011
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  18. 18
    ‘North Sea’ progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

    ‘North Sea’ progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation per Lysa Boissé Lomax, Marta A. Bayly, Helle Hjalgrim, Rikke S. Møller, Annemarie Vlaar, Kari Modalsli Aaberg, Iris Marquardt, Luke C. Gandolfo, Michèl A.A.P. Willemsen, Erik‐Jan Kamsteeg, John D. O’Sullivan, Georg-Christoph Korenke, Bastiaan R. Bloem, I.F.M. de Coo, Judith M.A. Verhagen, Ines Said, Trine Prescott, Asbjørg Stray‐Pedersen, Magnhild Rasmussen, Danya F. Vears, Anna‐Elina Lehesjoki, Mark Corbett, Melanie Bahlo, Jozef Gécz, Leanne M. Dibbens, Samuel F. Berkovic

    Publicat 2013
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  19. 19
    Biallelic variants in KIF14 cause intellectual disability with microcephaly

    Biallelic variants in KIF14 cause intellectual disability with microcephaly per Periklis Makrythanasis, Reza Maroofian, Asbjørg Stray‐Pedersen, Damir Musaev, Maha S. Zaki, Iman G. Mahmoud, Laila Selim, Amera Elbadawy, Shalini N. Jhangiani, Zeynep H. Coban Akdemir, Tomasz Gambin, Hanne Sørmo Sorte, Arvid Heiberg, Jennifer McEvoy‐Venneri, Kiely N. James, Valentina Stanley, Denice Belandres, Michel Guipponi, Federico Santoni, Najmeh Ahangari, Fatemeh Tara, Mohammad Doosti, Justyna Iwaszkiewicz, Vincent Zoete, Paul Hoff Backe, Hanan Hamamy, Joseph G. Gleeson, James R. Lupski, Ehsan Ghayoor Karimiani, Stylianos E. Antonarakis

    Publicat 2018
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  20. 20
    Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency

    Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency per Janne Strand, Kiran Aftab Gul, Hans Christian Erichsen, Emma Lundman, Mona C. Berge, Anette Kjoshagen Trømborg, Linda Karlsen Sørgjerd, Mari Ytre‐Arne, Silje Hogner, Ruth Halsne, H.J. Gaup, Liv Osnes, Grete A.B. Kro, Hanne Sørmo Sorte, Lars Mørkrid, Alexander D. Rowe, Trine Tangeraas, Jens Veilemand Jørgensen, Charlotte Alme, Trude E. H. Bjørndalen, Arild Rønnestad, Astri Maria Lang, Terje Rootwelt, Jochen Buechner, Torstein Øverland, Tore G. Abrahamsen, Rolf D. Pettersen, Asbjørg Stray‐Pedersen

    Publicat 2020
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