Activation of cryptic splice sites in three patients with chronic granulomatous disease

Autor de Boer, Martin, van Leeuwen, Karin, Hauri‐Hohl, Mathias, Roos, Dirk
Vydáno v Mol Genet Genomic Med (2019)

An adult autosomal recessive chronic granulomatous disease patient with pulmonary Aspergillus terreus infection

Autor Mortaz, Esmaeil, Sarhifynia, Somayeh, Marjani, Majid, Moniri, Afshin, Mansouri, Davood, Mehrian, Payam, van Leeuwen, Karin, Roos, Dirk, Garssen, Johan, Adcock, Ian M., Tabarsi, Payam
Vydáno v BMC Infect Dis (2018)

Comparative genomic profiling of Dutch clinical Bordetella pertussis isolates using DNA microarrays: Identification of genes absent from epidemic strains

Autor King, Audrey J, van Gorkom, Tamara, Pennings, Jeroen LA, van der Heide, Han GJ, He, Qiushui, Diavatopoulos, Dimitri, Heuvelman, Kees, van Gent, Marjolein, van Leeuwen, Karin, Mooi, Frits R
Vydáno 2008

Correction: Comparative genomic profiling of Dutch clinical Bordetella pertussis isolates using DNA microarrays: identification of genes absent from epidemic strains

Autor King, Audrey J, van Gorkom, Tamara, Pennings, Jeroen LA, van der Heide, Han GJ, He, Qiushui, Diavatopoulos, Dimitri, Heuvelman, Kees, van Gent, Marjolein, van Leeuwen, Karin, Mooi, Frits R
Vydáno 2010

Comparison of Spectrophotometry, Chromate Inhibition, and Cytofluorometry Versus Gene Sequencing for Detection of Heterozygously Glucose-6-Phosphate Dehydrogenase-Deficient Females

Autor Peters, Anna L., Veldthuis, Martijn, van Leeuwen, Karin, Bossuyt, Patrick M.M., Vlaar, Alexander P.J., van Bruggen, Robin, de Korte, Dirk, Van Noorden, Cornelis J.F., van Zwieten, Rob
Vydáno v J Histochem Cytochem (2017)

Factor H-Related (FHR)-1 and FHR-2 Form Homo- and Heterodimers, while FHR-5 Circulates Only As Homodimer in Human Plasma

Autor 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.
Vydáno v Front Immunol (2017)

Two CGD Families with a Hypomorphic Mutation in the Activation Domain of p67(phox)

Autor Roos, Dirk, van Buul, Jaap D, Tool, Anton TJ, Matute, Juan D, Marchal, Christophe M, Hayee, Bu’Hussain, Köker, M Yavuz, de Boer, Martin, van Leeuwen, Karin, Segal, Anthony W, Pick, Edgar, Dinauer, Mary C
Vydáno v J Clin Cell Immunol (2014)

Hematologically Important Mutations: The Autosomal Recessive Forms of Chronic Granulomatous Disease (Second Update)

Autor 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
Vydáno v Blood Cells Mol Dis (2010)

Presence of a High Amount of Stroma and Downregulation of SMAD4 Predict for Worse Survival for Stage I–II Colon Cancer Patients

Autor Mesker, Wilma E., Liefers, Gerrit-Jan, Junggeburt, Jan M. C., van Pelt, Gabi W., Alberici, Paola, Kuppen, Peter J. K., Miranda, Noel F., van Leeuwen, Karin A. M., Morreau, Hans, Szuhai, Karoly, Tollenaar, Rob A. E. M., Tanke, Hans J.
Vydáno v Cell Oncol (2009)

Hematologically important mutations: Leukocyte Adhesion Deficiency (first update)

Autor 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, Schwartz, Klaus, Somech, Raz, Kuijpers, Taco W., Roos, Dirk
Vydáno v Blood Cells Mol Dis (2011)

Hematologically important mutations: X-linked chronic granulomatous disease (third update)

Autor 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, Maria Ventura, Anna, Witwer, Carl T., Wolach, Baruch, Gallin, John I.
Vydáno v Blood Cells Mol Dis (2010)

Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India

Autor 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
Vydáno v Front Immunol (2021)

Inherited p40(phox) deficiency differs from classic chronic granulomatous disease

Autor van de Geer, Annemarie, Nieto-Patlán, Alejandro, Kuhns, Douglas B., Tool, Anton T.J., Arias, Andrés A., Bouaziz, Matthieu, de Boer, Martin, Franco, José Luis, Gazendam, Roel P., van Hamme, John L., van Houdt, Michel, van Leeuwen, Karin, Verkuijlen, Paul J.H., van den Berg, Timo K., Alzate, Juan F., Arango-Franco, Carlos A., Batura, Vritika, Bernasconi, Andrea R., Boardman, Barbara, Booth, Claire, Burns, Siobhan O., Cabarcas, Felipe, Bensussan, Nadine Cerf, Charbit-Henrion, Fabienne, Corveleyn, Anniek, Deswarte, Caroline, Azcoiti, María Esnaola, Foell, Dirk, Gallin, John I., Garcés, Carlos, Guedes, Margarida, Hinze, Claas H., Holland, Steven M., Hughes, Stephen M., Ibañez, Patricio, Malech, Harry L., Meyts, Isabelle, Moncada-Velez, Marcela, Moriya, Kunihiko, Neves, Esmeralda, Oleastro, Matias, Perez, Laura, Rattina, Vimel, Oleaga-Quintas, Carmen, Warner, Neil, Muise, Aleixo M., López, Jeanet Serafín, Trindade, Eunice, Vasconcelos, Julia, Vermeire, Séverine, Wittkowski, Helmut, Worth, Austen, Abel, Laurent, Dinauer, Mary C., Arkwright, Peter D., Roos, Dirk, Casanova, Jean-Laurent, Kuijpers, Taco W., Bustamante, Jacinta
Vydáno v J Clin Invest (2018)