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Page 1
Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation.
Shahin T, Mayr D, Shoeb MR, Kuehn HS, Hoeger B, Giuliani S, Gawriyski LM, Petronczki ÖY, Hadjadj J, Bal SK, Zoghi S, Haimel M, Jimenez Heredia R, Boutboul D, Triebwasser MP, Rialland-Battisti F, Costedoat Chalumeau N, Quartier P, Tangye SG, Fleisher TA, Rezaei N, Romberg N, Latour S, Varjosalo M, Halbritter F, Rieux-Laucat F, Castanon I, Rosenzweig SD, Boztug K. Shahin T, et al. Among authors: rosenzweig sd. Blood Adv. 2022 Apr 12;6(7):2444-2451. doi: 10.1182/bloodadvances.2021006367. Blood Adv. 2022. PMID: 34920454 Free PMC article.
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. Among authors: rosenzweig sd. 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.
Laboratory evaluation for T-cell dysfunction.
Rosenzweig SD, Fleisher TA. Rosenzweig SD, et al. J Allergy Clin Immunol. 2013 Feb;131(2):622-3.e1-4. doi: 10.1016/j.jaci.2012.11.018. J Allergy Clin Immunol. 2013. PMID: 23374275 Free PMC article. No abstract available.
GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia.
Ganapathi KA, Townsley DM, Hsu AP, Arthur DC, Zerbe CS, Cuellar-Rodriguez J, Hickstein DD, Rosenzweig SD, Braylan RC, Young NS, Holland SM, Calvo KR. Ganapathi KA, et al. Among authors: rosenzweig sd. Blood. 2015 Jan 1;125(1):56-70. doi: 10.1182/blood-2014-06-580340. Epub 2014 Oct 30. Blood. 2015. PMID: 25359990 Free PMC article.
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.
195 results