Výsledky vyhledávání - Annet Simons

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  1. 1
    ALK activation by the CLTC-ALK fusion is a recurrent event in large B-cell lymphoma

    ALK activation by the CLTC-ALK fusion is a recurrent event in large B-cell lymphoma Autor Pascale De Paepe, Mathijs Baens, J. Han van Krieken, Bruno Verhasselt, Michel Stul, Annet Simons, Bruce Poppe, Geneviève Laureys, Paul Brons, Peter Vandenberghe, Frank Speleman, Marleen Praet, Chris De Wolf‐Peeters, Peter Marynen, Iwona Włodarska

    Vydáno 2003
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  2. 2
    Primary immunodeficiency associated with chromosomal aberration – an ESID survey

    Primary immunodeficiency associated with chromosomal aberration – an ESID survey Autor Ellen Schatorjé, Michiel van der Flier, Mikko Seppänen, Michael J. Browning, Megan Morsheimer, Stefanie Henriet, João Farela Neves, Donald C. Vinh, Laia Alsina, Anete Sevciovic Grumach, Pere Soler‐Palacín, Thomas G. Boyce, Fatih Çelmeli, Ekaterini Goudouris, Grant Hayman, Richard Herriot, Elisabeth Förster‐Waldl, Markus G. Seidel, Annet Simons, Esther de Vries

    Vydáno 2016
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  3. 3
    Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19

    Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19 Autor Xavier Solanich, Gardenia Vargas‐Parra, Caspar I. van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, Arnau Antolí, Jesús Del Valle, Gemma Rocamora-Blanch, Fernando Setién, Manel Esteller, Simon V. van Reijmersdal, Antoni Riera‐Mestre, Joan Sabater‐Riera, Gabriel Capellà, Frank L. van de Veerdonk, Ben van der Hoven, Xavier Corbella, Alexander Hoischen, Conxi Lázaro

    Vydáno 2021
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  4. 4
    Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

    Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders Autor Rolph Pfundt, Marisol del Rosario, Lisenka E.L.M. Vissers, Michael Kwint, Irene M. Janssen, Nicole de Leeuw, Helger G. Yntema, Marcel Nelen, Dorien Lugtenberg, Erik‐Jan Kamsteeg, Nienke Wieskamp, Alexander P.A. Stegmann, Servi J.C. Stevens, Richard J. Rodenburg, Annet Simons, Arjen R. Mensenkamp, Tuula Rinne, Christian Gilissen, Hans Scheffer, Joris A. Veltman, Jayne Y. Hehir‐Kwa

    Vydáno 2016
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  5. 5
    Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS

    Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS Autor Caspar I. van der Made, Judith Potjewijd, Annemiek Hoogstins, Huub P J Willems, Arjan J. Kwakernaak, Ruud G.L. de Sévaux, Paul Van Daele, Annet Simons, Marloes W Heijstek, David B. Beck, Mihai G. Netea, Pieter van Paassen, A. Elizabeth Hak, Lars T. van der Veken, Mariëlle van Gijn, Alexander Hoischen, Frank L. van de Veerdonk, Helen L. Leavis, Abraham Rutgers

    Vydáno 2021
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  6. 6
    Presence of Genetic Variants Among Young Men With Severe COVID-19

    Presence of Genetic Variants Among Young Men With Severe COVID-19 Autor Caspar I. van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, Guus van den Heuvel, Tuomo Mantere, Simone Kersten, Rosanne C. van Deuren, Marloes Steehouwer, Simon V. van Reijmersdal, Martin Jaeger, Tom Hofste, Galuh Astuti, Jordi Corominas Galbany, Vyne van der Schoot, Hans van der Hoeven, Wanda Hagmolen of ten Have, Eva Klijn, Catrien van den Meer, Jeroen Fiddelaers, Quirijn de Mast, Chantal P. Bleeker‐Rovers, Leo A. B. Joosten, Helger G. Yntema, Christian Gilissen, Marcel Nelen, J.W.M. van der Meer, Han G. Brunner, Mihai G. Netea, Frank L. van de Veerdonk, Alexander Hoischen

    Vydáno 2020
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  7. 7
    Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome

    Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome Autor Caspar I. van der Made, Simone Kersten, Odelia Chorin, Karin R. Engelhardt, Gayatri Ramakrishnan, Helen Griffin, Ina Schim van der Loeff, Hanka Venselaar, Annick Raas Rothschild, Meirav Segev, Janneke Schuurs-Hoeijmakers, Tuomo Mantere, Rick Essers, Masoud Zamani Esteki, A. Avital, Peh Sun Loo, Annet Simons, Rolph Pfundt, Adilia Warris, Marieke M.B. Seyger, Frank L. van de Veerdonk, Mihai G. Netea, Mary Slatter, Terry Flood, Andrew R. Gennery, Amos J. Simon, Atar Lev, Shirley Frizinsky, Ortal Barel, Mirjam van der Burg, Raz Somech, Sophie Hambleton, Stefanie Henriet, Alexander Hoischen

    Vydáno 2024
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  8. 8
    Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

    Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies Autor Peer Arts, Annet Simons, Mofareh AlZahrani, Elanur Yılmaz, Eman AlIdrissi, Koen van Aerde, Njood Alenezi, Hamza AlGhamdi, Hadeel AlJubab, Abdulrahman Al‐Hussaini, Fahad AlManjomi, Alaa Alsaad, Badr Alsaleem, Abdulrahman Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker‐Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad Habazi, Jayne Y. Hehir‐Kwa, Stefanie Henriet, Esther Hoppenreijs, Sarah Hortillosa, Chantal Kerkhofs, Riikka Keski‐Filppula, Stefan H. Lelieveld, Khurram Lone, Marius MacKenzie, Arjen R. Mensenkamp, Jukka S. Moilanen, Marcel Nelen, Jaap ten Oever, Judith Potjewijd, Pieter van Paassen, Janneke Schuurs-Hoeijmakers, Anna Simon, Tomasz Stokowy, Maartje van de Vorst, Maaike Vreeburg, Anja Wagner, Gijs T. J. van Well, Dimitra Zafeiropoulou, Evelien Zonneveld‐Huijssoon, Joris A. Veltman, Wendy A.G. van Zelst–Stams, Eissa Faqeih, Frank L. van de Veerdonk, Mihai G. Netea, Alexander Hoischen

    Vydáno 2019
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  9. 9
    A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

    A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia Autor Sohela Shah, Kasmintan A. Schrader, Esmé Waanders, Andrew E. Timms, Joseph Vijai, Cornelius Miething, Jeremy Wechsler, Jun J. Yang, James E. Hayes, Robert J. Klein, Jinghui Zhang, Lei Wei, Gang Wu, Michael Rusch, Panduka Nagahawatte, Jing Ma, Shann-Ching Chen, Guangchun Song, Jinjun Cheng, Paul A. Meyers, Deepa Bhojwani, Suresh C. Jhanwar, P. Maslak, Martin Fleisher, Jason Littman, Lily Offit, Rohini Rau‐Murthy, Megan Harlan Fleischut, Marina Corines, Rajmohan Murali, Xiaoni Gao, Christopher Manschreck, Thomas Kitzing, Vundavalli V. Murty, Susana C. Raimondi, Roland P. Kuiper, Annet Simons, Joshua D. Schiffman, Kenan Onel, Sharon E. Plon, David A. Wheeler, Deborah Ritter, David S. Ziegler, Kathy Tucker, Rosemary Sutton, Georgia Chenevix‐Trench, Jun Li, David G. Huntsman, Samantha Hansford, Janine Senz, Tom Walsh, Ming Lee, Christopher N Hahn, Kathryn G. Roberts, Mary‐Claire King, Sarah M. Lo, Ross L. Levine, Agnès Viale, Nicholas D. Socci, Katherine L. Nathanson, Hamish S. Scott, Mark J. Daly, Steven M. Lipkin, Scott W. Lowe, James R. Downing, David Altshuler, John T. Sandlund, Marshall S. Horwitz, Charles G. Mullighan, Kenneth Offit

    Vydáno 2013
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