Martin de Boer
Martin de Boer
Sanquin Bloodsupply Foundation
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Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease
HMP D Roos, M de Boer, F Kuribayashi, C Meischl, R S Weening, A W Segal, A ...
Blood 87 (5), 1663-81, 1996
448*1996
Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation
DR Ambruso, C Knall, AN Abell, J Panepinto, A Kurkchubasche, ...
Proceedings of the National Academy of Sciences 97 (9), 4654-4659, 2000
4222000
Leukocyte adhesion deficiency type 1 (LAD-1)/variant. A novel immunodeficiency syndrome characterized by dysfunctional beta2 integrins.
TW Kuijpers, RA Van Lier, D Hamann, M de Boer, LY Thung, RS Weening, ...
The Journal of clinical investigation 100 (7), 1725-1733, 1997
2211997
LAD-1/variant syndrome is caused by mutations in FERMT3
TW Kuijpers, E van de Vijver, MAJ Weterman, M de Boer, ATJ Tool, ...
Blood 113 (19), 4740-4746, 2009
1992009
Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura
WB Breunis, E van Mirre, M Bruin, J Geissler, M de Boer, M Peters, ...
Blood 111 (3), 1029-1038, 2008
1952008
[8] Purification and cryopreservation of phagocytes from human blood
D Roos, M de Boer
Methods in enzymology 132, 225-243, 1986
1911986
Hematologically important mutations: X-linked chronic granulomatous disease (third update)
D Roos, DB Kuhns, A Maddalena, J Roesler, JA Lopez, T Ariga, T Avcin, ...
Blood Cells, Molecules, and Diseases 45 (3), 246-265, 2010
1792010
Copy number variation at the FCGR locus includes FCGR3A, FCGR2C and FCGR3B but not FCGR2A and FCGR2B
WB Breunis, E van Mirre, J Geissler, N Laddach, G Wolbink, ...
Human mutation 30 (5), E640-E650, 2009
1562009
Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update)
D Roos, DB Kuhns, A Maddalena, J Bustamante, C Kannengiesser, ...
Blood Cells, Molecules, and Diseases 44 (4), 291-299, 2010
1552010
Interaction between human neutrophils and zymosan particles: the role of opsonins and divalent cations.
D Roos, AA Bot, ML Van Schaik, M De Boer, MR Daha
The Journal of Immunology 126 (2), 433-440, 1981
1441981
Molecular diagnosis of chronic granulomatous disease
D Roos, M de Boer
Clinical & Experimental Immunology 175 (2), 139-149, 2014
1372014
Specific leukotriene formation by purified human eosinophils and neutrophils
J Verhagen, PLB Bruynzeel, JA Koedam, G Aryan Wassink, M de Boer, ...
FEBS letters 168 (1), 23-28, 1984
1271984
Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients
MY Köker, Y Camcıoğlu, K van Leeuwen, SŞ Kılıç, I Barlan, M Yılmaz, ...
Journal of allergy and clinical immunology 132 (5), 1156-1163. e5, 2013
1262013
Evidence consistent with human L1 retrotransposition in maternal meiosis I
B Brouha, C Meischl, E Ostertag, M De Boer, Y Zhang, H Neijens, D Roos, ...
The American Journal of Human Genetics 71 (2), 327-336, 2002
1232002
Hematologically important mutations: leukocyte adhesion deficiency (first update)
E Van De Vijver, A Maddalena, Ö Sanal, SM Holland, G Uzel, ...
Blood Cells, Molecules, and Diseases 48 (1), 53-61, 2012
1202012
Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease
BG Bolscher, M De Boer, A De Klein, RS Weening, D Roos
1151991
Metabolic comparison between basophils and other leukocytes from human blood.
M De Boer, D Roos
The Journal of Immunology 136 (9), 3447-3454, 1986
1141986
Prevalence, genetics and clinical presentation of chronic granulomatous disease in Sweden
A Åhlin, M De Boer, D Roos, J Leusen, CIE Smith, U Sundin, H Rabbani, ...
Acta Paediatrica 84 (12), 1386-1394, 1995
1081995
Phenotypic variation in IgG receptors by nonclassical FCGR2C alleles
J Van der Heijden, WB Breunis, J Geissler, M de Boer, TK van den Berg, ...
The Journal of Immunology 188 (3), 1318-1324, 2012
1042012
A new exon created by intronic insertion of a rearranged LINE-1 element as the cause of chronic granulomatous disease
C Meischl, M de Boer, A Åhlin, D Roos
European Journal of Human Genetics 8 (9), 697-703, 2000
1042000
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