Mannose-Binding Lectin Deficiency Facilitates Abdominal Candida Infections in Patients with Secondary Peritonitis
van Till, J W Olivier, Modderman, Piet W, de Boer, Martin, Hart, Margreet H L, Beld, Marcel G H M, Boermeester, Marja A
Published in Clinical and Vaccine Immunology (01.01.2008)
Published in Clinical and Vaccine Immunology (01.01.2008)
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Journal Article
Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells
Karampini, Ellie, Schillemans, Maaike, Hofman, Menno, van Alphen, Floris, de Boer, Martin, Kuijpers, Taco W, van den Biggelaar, Maartje, Voorberg, Jan, Bierings, Ruben
Published in Haematologica (Roma) (01.10.2019)
Published in Haematologica (Roma) (01.10.2019)
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Journal Article
Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients
Köker, Mustafa Yavuz, MD, PhD, Camcıoğlu, Yıldız, MD, van Leeuwen, Karin, BSc, Kılıç, Sara Şebnem, MD, Barlan, Işıl, MD, Yılmaz, Mustafa, MD, Metin, Ayşe, MD, PhD, de Boer, Martin, BSc, Avcılar, Hüseyin, MD, PhD, Patıroğlu, Türkan, MD, Yıldıran, Alişan, MD, Yeğin, Olcay, MD, Tezcan, İlhan, MD, PhD, Sanal, Özden, MD, Roos, Dirk, PhD
Published in Journal of allergy and clinical immunology (01.11.2013)
Published in Journal of allergy and clinical immunology (01.11.2013)
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Journal Article
Clinical and Immunological Characteristics of 63 Patients with Chronic Granulomatous Disease: Hacettepe Experience
Akar, Halil Tuna, Esenboga, Saliha, Cagdas, Deniz, Halacli, Sevil Oskay, Ozbek, Begum, van Leeuwen, Karin, de Boer, Martin, Tan, Cagman Sun, Köker, Yavuz, Roos, Dirk, Tezcan, Ilhan
Published in Journal of clinical immunology (01.07.2021)
Published in Journal of clinical immunology (01.07.2021)
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Journal Article
Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India
Rawat, Amit, Vignesh, Pandiarajan, Sudhakar, Murugan, Sharma, Madhubala, Suri, Deepti, Jindal, Ankur, Gupta, Anju, Shandilya, Jitendra Kumar, Loganathan, Sathish Kumar, Kaur, Gurjit, Chawla, Sanchi, Patra, Pratap Kumar, Khadwal, Alka, Saikia, Biman, Minz, Ranjana Walker, Aggarwal, Vaishali, Taur, Prasad, Pandrowala, Ambreen, Gowri, Vijaya, Desai, Mukesh, Kulkarni, Manasi, Hule, Gauri, Bargir, Umair, Kambli, Priyanka, Madkaikar, Manisha, Bhattad, Sagar, Ginigeri, Chetan, Kumar, Harish, Jayaram, Ananthvikas, Munirathnam, Deenadayalan, Sivasankaran, Meena, Raj, Revathi, Uppuluri, Ramya, Na, Fouzia, George, Biju, Lashkari, Harsha Prasada, Kalra, Manas, Sachdeva, Anupam, Seth, Shishir, Sabui, Tapas, Gupta, Aman, van Leeuwen, Karin, de Boer, Martin, Chan, Koon Wing, Imai, Kohsuke, Ohara, Osamu, Nonoyama, Shigeaki, Lau, Yu Lung, Singh, Surjit
Published in Frontiers in immunology (25.02.2021)
Published in Frontiers in immunology (25.02.2021)
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Journal Article
Hematologically important mutations: Leukocyte adhesion deficiency (second update)
Roos, Dirk, van Leeuwen, Karin, Madkaikar, Manisha, Kambli, Priyanka M., Gupta, Maya, Mathews, Vikram, Rawat, Amit, Kuhns, Douglas B., Holland, Steven M., de Boer, Martin, Kanegane, Hirokazu, Parvaneh, Nima, Lorenz, Myriam, Schwarz, Klaus, Klein, Christoph, Sherkat, Roya, Jafari, Mahbube, Wolach, Baruch, den Dunnen, Johan T., Kuijpers, Taco W., Köker, M. Yavuz
Published in Blood cells, molecules, & diseases (01.03.2023)
Published in Blood cells, molecules, & diseases (01.03.2023)
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Journal Article
Characterization of two novel mutations in IL-12R signaling in MSMD patients
Fayez, Elham Alipour, Koohini, Zahra, Koohini, Zohreh, Zamanzadeh, Hossein, de Boer, Martin, Roos, Dirk, Teimourian, Shahram
Published in Pathogens and disease (01.04.2019)
Published in Pathogens and disease (01.04.2019)
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Journal Article
Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura
Breunis, Willemijn B., van Mirre, Edwin, Bruin, Marrie, Geissler, Judy, de Boer, Martin, Peters, Marjolein, Roos, Dirk, de Haas, Masja, Koene, Harry R., Kuijpers, Taco W.
Published in Blood (01.02.2008)
Published in Blood (01.02.2008)
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Journal Article
Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients
Kulkarni, Manasi, Hule, Gouri, de Boer, Martin, van Leeuwen, Karin, Kambli, Priyanka, Aluri, Jahnavi, Gupta, Maya, Dalvi, Aparna, Mhatre, Snehal, Taur, Prasad, Desai, Mukesh, Madkaikar, Manisha
Published in Journal of clinical immunology (01.11.2018)
Published in Journal of clinical immunology (01.11.2018)
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Journal Article
Hematologically important mutations: Leukocyte adhesion deficiency (first update)
van de Vijver, Edith, Maddalena, Anne, Sanal, Özden, Holland, Steven M., Uzel, Gulbu, Madkaikar, Manisha, de Boer, Martin, van Leeuwen, Karin, Köker, M. Yavuz, Parvaneh, Nima, Fischer, Alain, Law, S.K. Alex, Klein, Nigel, Tezcan, F. Ilhan, Unal, Ekrem, Patiroglu, Turkan, Belohradsky, Bernd H., Schwartz, Klaus, Somech, Raz, Kuijpers, Taco W., Roos, Dirk
Published in Blood cells, molecules, & diseases (15.01.2012)
Published in Blood cells, molecules, & diseases (15.01.2012)
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Journal Article
LAD-1/variant syndrome is caused by mutations in FERMT3
Kuijpers, Taco W., van de Vijver, Edith, Weterman, Marian A.J., de Boer, Martin, Tool, Anton T.J., van den Berg, Timo K., Moser, Markus, Jakobs, Marja E., Seeger, Karl, Sanal, Özden, Ünal, Sule, Çetin, Mualla, Roos, Dirk, Verhoeven, Arthur J., Baas, Frank
Published in Blood (07.05.2009)
Published in Blood (07.05.2009)
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Journal Article
Hematologically important mutations: X-linked chronic granulomatous disease (third update)
Roos, Dirk, Kuhns, Douglas B., Maddalena, Anne, Roesler, Joachim, Lopez, Juan Alvaro, Ariga, Tadashi, Avcin, Tadej, de Boer, Martin, Bustamante, Jacinta, Condino-Neto, Antonio, Di Matteo, Gigliola, He, Jianxin, Hill, Harry R., Holland, Steven M., Kannengiesser, Caroline, Köker, M. Yavuz, Kondratenko, Irina, van Leeuwen, Karin, Malech, Harry L., Marodi, László, Nunoi, Hiroyuki, Stasia, Marie-José, Ventura, Anna Maria, Witwer, Carl T., Wolach, Baruch, Gallin, John I.
Published in Blood cells, molecules, & diseases (15.10.2010)
Published in Blood cells, molecules, & diseases (15.10.2010)
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Journal Article
Factor H-Related (FHR)-1 and FHR-2 Form Homo- and Heterodimers, while FHR-5 Circulates Only As Homodimer in Human Plasma
van Beek, Anna E, Pouw, Richard B, Brouwer, Mieke C, van Mierlo, Gerard, Geissler, Judy, Ooijevaar-de Heer, Pleuni, de Boer, Martin, van Leeuwen, Karin, Rispens, Theo, Wouters, Diana, Kuijpers, Taco W
Published in Frontiers in immunology (18.10.2017)
Published in Frontiers in immunology (18.10.2017)
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Journal Article
Mutation characterization and heterodimer analysis of patients with leukocyte adhesion deficiency: including one novel mutation
Teimourian, Shahram, Boer, Martin De, Roos, Dirk, Isaian, Anna, Moghanloo, Ehsan, Lashkary, Sharhzad, Hassani, Bita, Mollanoori, Hasan, Babaei, Vahid, Azarnezhad, Asaad
Published in Immunology letters (01.07.2017)
Published in Immunology letters (01.07.2017)
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Journal Article
Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (second update)
Roos, Dirk, Kuhns, Douglas B., Maddalena, Anne, Bustamante, Jacinta, Kannengiesser, Caroline, de Boer, Martin, van Leeuwen, Karin, Köker, M. Yavuz, Wolach, Baruch, Roesler, Joachim, Malech, Harry L., Holland, Steven M., Gallin, John I., Stasia, Marie-José
Published in Blood cells, molecules, & diseases (15.04.2010)
Published in Blood cells, molecules, & diseases (15.04.2010)
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Journal Article
Activation of cryptic splice sites in three patients with chronic granulomatous disease
de Boer, Martin, van Leeuwen, Karin, Hauri‐Hohl, Mathias, Roos, Dirk
Published in Molecular genetics & genomic medicine (01.09.2019)
Published in Molecular genetics & genomic medicine (01.09.2019)
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Journal Article
Epac1-Rap1 signaling regulates monocyte adhesion and chemotaxis
Lorenowicz, Magdalena J., Gils, Janine, Boer, Martin, Hordijk, Peter L., Fernandez‐Borja, Mar
Published in Journal of leukocyte biology (01.12.2006)
Published in Journal of leukocyte biology (01.12.2006)
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