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Martin de Boer
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Journal Articles

Genotype-phenotype correlations in chronic granulomatous disease: insights from a large national cohort

Clinical Trials & Observations
Baruch Wolach, Ronit Gavrieli, Ofir Wolach, Pazit Salamon, Martin de Boer, Karin van Leeuwen, Omar Abuzaitoun, Arnon Broides, Giora Gottesman, Galia Grisaru-Soen, David Hagin, Nufar Marcus, Menachem Rottem, Yechiel Schlesinger, Tali Stauber, Polina Stepensky, Yael Dinur-Schejter, Tal Zeeli, Suheir Hanna, Amos Etzioni, Shirly Frizinsky, Raz Somech, Dirk Roos, Idit Lachover-Roth
Journal: Blood
Blood (2024) 144 (12): 1300–1313.
https://doi.org/10.1182/blood.2023022590
Published: 2024
Includes: Supplemental data
Journal Articles

MKL1 deficiency results in a severe neutrophil motility defect due to impaired actin polymerization

Evelien G. G. Sprenkeler, Stefanie S. V. Henriet, Anton T. J. Tool, Iris C. Kreft, Ivo van der Bijl, Cathelijn E. M. Aarts, Michel van Houdt, Paul J. J. H. Verkuijlen, Koen van Aerde, Gerald Jaspers, Arno van Heijst, Wouter Koole, Thatjana Gardeitchik, Judy Geissler, Martin de Boer, Simon Tol, Christine W. Bruggeman, Floris P. J. van Alphen, Han J. M. P. Verhagen, Emile van den Akker, Hans Janssen, Robin van Bruggen, Timo K. van den Berg, Kian D. Liem, Taco W. Kuijpers
Journal: Blood
Blood (2020) 135 (24): 2171–2181.
https://doi.org/10.1182/blood.2019002633
Published: 2020
Includes: Multimedia, Supplemental data
Journal Articles

LAD-1/variant syndrome is caused by mutations in FERMT3

Taco W. Kuijpers, Edith van de Vijver, Marian A. J. Weterman, Martin de Boer, Anton T. J. Tool, Timo K. van den Berg, Markus Moser, Marja E. Jakobs, Karl Seeger, Özden Sanal, Sule Ünal, Mualla Çetin, Dirk Roos, Arthur J. Verhoeven, Frank Baas
Journal: Blood
Blood (2009) 113 (19): 4740–4746.
https://doi.org/10.1182/blood-2008-10-182154
Published: 2009
Journal Articles

Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura

Clinical Trials & Observations
Willemijn B. Breunis, Edwin van Mirre, Marrie Bruin, Judy Geissler, Martin de Boer, Marjolein Peters, Dirk Roos, Masja de Haas, Harry R. Koene, Taco W. Kuijpers
Journal: Blood
Blood (2008) 111 (3): 1029–1038.
https://doi.org/10.1182/blood-2007-03-079913
Published: 2008
Includes: Supplemental data
Journal Articles

Molecular basis of glutathione reductase deficiency in human blood cells

Nanne M. Kamerbeek, Rob van Zwieten, Martin de Boer, Gert Morren, Herma Vuil, Natalja Bannink, Carsten Lincke, Koert M. Dolman, Katja Becker, R. Heiner Schirmer, Stephan Gromer, Dirk Roos
Journal: Blood
Blood (2006) 109 (8): 3560–3566.
https://doi.org/10.1182/blood-2006-08-042531
Published: 2006
Includes: Supplemental data
Journal Articles

Neutrophil responsiveness to IgG, as determined by fixed ratios of mRNA levels for activating and inhibitory FcγRII (CD32), is stable over time and unaffected by cytokines

Edwin van Mirre, Willemijn B. Breunis, Judy Geissler, C. Erik Hack, Martin de Boer, Dirk Roos, Taco W. Kuijpers
Journal: Blood
Blood (2006) 108 (2): 584–590.
https://doi.org/10.1182/blood-2005-12-4997
Published: 2006
Journal Articles

Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB

Clinical Trials & Observations
Baruch Wolach, Yitshak Scharf, Ronit Gavrieli, Martin de Boer, Dirk Roos
Journal: Blood
Blood (2005) 105 (1): 61–66.
https://doi.org/10.1182/blood-2004-02-0675
Published: 2005
Journal Articles

Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections

Robin van Bruggen, José M. Bautista, Theoni Petropoulou, Martin de Boer, Rob van Zwieten, Felı́x Gómez-Gallego, Bernd H. Belohradsky, Nico G. Hartwig, David Stevens, Philip J. Mason, Dirk Roos
Journal: Blood
Blood (2002) 100 (3): 1026–1030.
https://doi.org/10.1182/blood.V100.3.1026
Published: 2002
Journal Articles

Molecular Basis and Enzymatic Properties of Glucose 6-Phosphate Dehydrogenase Volendam, Leading to Chronic Nonspherocytic Anemia, Granulocyte Dysfunction, and Increased Susceptibility to Infections

Dirk Roos, Rob van Zwieten, Juul T. Wijnen, Felix Gómez-Gallego, Martin de Boer, David Stevens, Claudia J. Pronk-Admiraal, Thea de Rijk, Cornelis J.F. van Noorden, Ron S. Weening, Tom J. Vulliamy, J. Eduard Ploem, Philip J. Mason, José M. Bautista, P. Meera Khan, Ernest Beutler
Journal: Blood
Blood (1999) 94 (9): 2955–2962.
https://doi.org/10.1182/blood.V94.9.2955
Published: 1999
Journal Articles

Somatic Triple Mosaicism in a Carrier of X-Linked Chronic Granulomatous Disease

Martin de Boer, Egbert Bakker, Stefaan Van Lierde, Dirk Roos
Journal: Blood
Blood (1998) 91 (1): 252–257.
https://doi.org/10.1182/blood.V91.1.252
Published: 1998