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Hematologically important mutations: leukocyte adhesion deficiency (first update).
van de Vijver E, Maddalena A, Sanal Ö, Holland SM, Uzel G, Madkaikar M, de Boer M, van Leeuwen K, Köker MY, Parvaneh N, Fischer A, Law SK, Klein N, Tezcan FI, Unal E, Patiroglu T, Belohradsky BH, Schwartz K, Somech R, Kuijpers TW, Roos D. van de Vijver E, et al. Among authors: van leeuwen k. Blood Cells Mol Dis. 2012 Jan 15;48(1):53-61. doi: 10.1016/j.bcmd.2011.10.004. Epub 2011 Nov 30. Blood Cells Mol Dis. 2012. PMID: 22134107 Free PMC article. Review.
Rare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families.
Stasia MJ, van Leeuwen K, de Boer M, Martel C, Mollin M, Thuret I, Michel G, Hanson C, Augustine NH, Coutton C, Satre V, Wittwer CT, Hill H, Roos D. Stasia MJ, et al. Among authors: van leeuwen k. J Clin Immunol. 2012 Aug;32(4):653-62. doi: 10.1007/s10875-012-9667-2. Epub 2012 Mar 2. J Clin Immunol. 2012. PMID: 22382877
Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.
Köker MY, Camcıoğlu Y, van Leeuwen K, Kılıç SŞ, Barlan I, Yılmaz M, Metin A, de Boer M, Avcılar H, Patıroğlu T, Yıldıran A, Yeğin O, Tezcan I, Sanal Ö, Roos D. Köker MY, et al. Among authors: van leeuwen k. J Allergy Clin Immunol. 2013 Nov;132(5):1156-1163.e5. doi: 10.1016/j.jaci.2013.05.039. Epub 2013 Jul 31. J Allergy Clin Immunol. 2013. PMID: 23910690
Inherited p40phox deficiency differs from classic chronic granulomatous disease.
van de Geer A, Nieto-Patlán A, Kuhns DB, Tool AT, Arias AA, Bouaziz M, de Boer M, Franco JL, Gazendam RP, van Hamme JL, van Houdt M, van Leeuwen K, Verkuijlen PJ, van den Berg TK, Alzate JF, Arango-Franco CA, Batura V, Bernasconi AR, Boardman B, Booth C, Burns SO, Cabarcas F, Bensussan NC, Charbit-Henrion F, Corveleyn A, Deswarte C, Azcoiti ME, Foell D, Gallin JI, Garcés C, Guedes M, Hinze CH, Holland SM, Hughes SM, Ibañez P, Malech HL, Meyts I, Moncada-Velez M, Moriya K, Neves E, Oleastro M, Perez L, Rattina V, Oleaga-Quintas C, Warner N, Muise AM, López JS, Trindade E, Vasconcelos J, Vermeire S, Wittkowski H, Worth A, Abel L, Dinauer MC, Arkwright PD, Roos D, Casanova JL, Kuijpers TW, Bustamante J. van de Geer A, et al. Among authors: van leeuwen k, van houdt m, van den berg tk, van hamme jl. J Clin Invest. 2018 Aug 31;128(9):3957-3975. doi: 10.1172/JCI97116. Epub 2018 Aug 6. J Clin Invest. 2018. PMID: 29969437 Free PMC article.
266 results