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

por de Boer, Martin, van Leeuwen, Karin, Hauri‐Hohl, Mathias, Roos, Dirk
Publicado en Mol Genet Genomic Med (2019)

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

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

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

por 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
Publicado 2008

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

por 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
Publicado 2010

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

por 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
Publicado en 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

por 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.
Publicado en Front Immunol (2017)

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

por 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
Publicado en J Clin Cell Immunol (2014)

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

por 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
Publicado en 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

por 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.
Publicado en Cell Oncol (2009)

Hematologically important mutations: Leukocyte Adhesion Deficiency (first update)

por 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
Publicado en Blood Cells Mol Dis (2011)

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

por 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.
Publicado en Blood Cells Mol Dis (2010)

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

por 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
Publicado en Front Immunol (2021)

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

por 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
Publicado en J Clin Invest (2018)