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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: uzel g. 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.
Th1 T-cell and monocyte defects.
Uzel G, Holland SM. Uzel G, et al. Pediatr Clin North Am. 2000 Dec;47(6):1275-89. doi: 10.1016/s0031-3955(05)70271-6. Pediatr Clin North Am. 2000. PMID: 11130996 Review.
Dysfunctional LAD-1 neutrophils and colitis.
Uzel G, Kleiner DE, Kuhns DB, Holland SM. Uzel G, et al. Gastroenterology. 2001 Oct;121(4):958-64. doi: 10.1053/gast.2001.28022. Gastroenterology. 2001. PMID: 11606509
Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1).
Uzel G, Tng E, Rosenzweig SD, Hsu AP, Shaw JM, Horwitz ME, Linton GF, Anderson SM, Kirby MR, Oliveira JB, Brown MR, Fleisher TA, Law SK, Holland SM. Uzel G, et al. Blood. 2008 Jan 1;111(1):209-18. doi: 10.1182/blood-2007-04-082552. Epub 2007 Sep 17. Blood. 2008. PMID: 17875809 Free PMC article.
Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.
Mace EM, Hsu AP, Monaco-Shawver L, Makedonas G, Rosen JB, Dropulic L, Cohen JI, Frenkel EP, Bagwell JC, Sullivan JL, Biron CA, Spalding C, Zerbe CS, Uzel G, Holland SM, Orange JS. Mace EM, et al. Among authors: uzel g. Blood. 2013 Apr 4;121(14):2669-77. doi: 10.1182/blood-2012-09-453969. Epub 2013 Jan 30. Blood. 2013. PMID: 23365458 Free PMC article.
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.
Spinner MA, Sanchez LA, Hsu AP, Shaw PA, Zerbe CS, Calvo KR, Arthur DC, Gu W, Gould CM, Brewer CC, Cowen EW, Freeman AF, Olivier KN, Uzel G, Zelazny AM, Daub JR, Spalding CD, Claypool RJ, Giri NK, Alter BP, Mace EM, Orange JS, Cuellar-Rodriguez J, Hickstein DD, Holland SM. Spinner MA, et al. Among authors: uzel g. Blood. 2014 Feb 6;123(6):809-21. doi: 10.1182/blood-2013-07-515528. Epub 2013 Nov 13. Blood. 2014. PMID: 24227816 Free PMC article.
166 results