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

著者: de Boer, Martin, van Leeuwen, Karin, Hauri‐Hohl, Mathias, Roos, Dirk
出版年 Mol Genet Genomic Med (2019)

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

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

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

著者: 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
出版事項 2008

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

著者: 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
出版事項 2010

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

著者: 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
出版年 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

著者: 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.
出版年 Front Immunol (2017)

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

著者: 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
出版年 J Clin Cell Immunol (2014)

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

著者: 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
出版年 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

著者: 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.
出版年 Cell Oncol (2009)

Hematologically important mutations: Leukocyte Adhesion Deficiency (first update)

著者: 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
出版年 Blood Cells Mol Dis (2011)

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

著者: 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.
出版年 Blood Cells Mol Dis (2010)

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

著者: 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
出版年 Front Immunol (2021)

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

著者: 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
出版年 J Clin Invest (2018)