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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: sanal o. 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.
LAD-1/variant syndrome is caused by mutations in FERMT3.
Kuijpers TW, van de Vijver E, Weterman MA, de Boer M, Tool AT, van den Berg TK, Moser M, Jakobs ME, Seeger K, Sanal O, Unal S, Cetin M, Roos D, Verhoeven AJ, Baas F. Kuijpers TW, et al. Among authors: sanal o. Blood. 2009 May 7;113(19):4740-6. doi: 10.1182/blood-2008-10-182154. Epub 2008 Dec 8. Blood. 2009. PMID: 19064721 Free article.
Natural history and early diagnosis of LAD-1/variant syndrome.
Kuijpers TW, van Bruggen R, Kamerbeek N, Tool AT, Hicsonmez G, Gurgey A, Karow A, Verhoeven AJ, Seeger K, Sanal O, Niemeyer C, Roos D. Kuijpers TW, et al. Among authors: sanal o. Blood. 2007 Apr 15;109(8):3529-37. doi: 10.1182/blood-2006-05-021402. Epub 2006 Dec 21. Blood. 2007. PMID: 17185466 Free article. Clinical Trial.
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: sanal o. 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
Mutations of chronic granulomatous disease in Turkish families.
Köker MY, Sanal O, De Boer M, Tezcan I, Metin A, Ersoy F, Roos D. Köker MY, et al. Among authors: sanal o. Eur J Clin Invest. 2007 Jul;37(7):589-95. doi: 10.1111/j.1365-2362.2007.01828.x. Eur J Clin Invest. 2007. PMID: 17576211
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
211 results