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

מאת de Boer, Martin, van Leeuwen, Karin, Hauri‐Hohl, Mathias, Roos, Dirk
הוצא לאור ב Mol Genet Genomic Med (2019)

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

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

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

מאת 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
יצא לאור 2008

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

מאת 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
יצא לאור 2010

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

מאת 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
הוצא לאור ב 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

מאת 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.
הוצא לאור ב Front Immunol (2017)

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

מאת 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
הוצא לאור ב J Clin Cell Immunol (2014)

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

מאת 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
הוצא לאור ב 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

מאת 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.
הוצא לאור ב Cell Oncol (2009)

Hematologically important mutations: Leukocyte Adhesion Deficiency (first update)

מאת 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
הוצא לאור ב Blood Cells Mol Dis (2011)

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

מאת 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.
הוצא לאור ב Blood Cells Mol Dis (2010)

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

מאת 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
הוצא לאור ב Front Immunol (2021)

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

מאת 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
הוצא לאור ב J Clin Invest (2018)