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766 results

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Page 1
Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.
Hoenig M, Lagresle-Peyrou C, Pannicke U, Notarangelo LD, Porta F, Gennery AR, Slatter M, Cowan MJ, Stepensky P, Al-Mousa H, Al-Zahrani D, Pai SY, Al Herz W, Gaspar HB, Veys P, Oshima K, Imai K, Yabe H, Noroski LM, Wulffraat NM, Sykora KW, Soler-Palacin P, Muramatsu H, Al Hilali M, Moshous D, Debatin KM, Schuetz C, Jacobsen EM, Schulz AS, Schwarz K, Fischer A, Friedrich W, Cavazzana M; European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party. Hoenig M, et al. Among authors: notarangelo ld. Blood. 2017 May 25;129(21):2928-2938. doi: 10.1182/blood-2016-11-745638. Epub 2017 Mar 22. Blood. 2017. PMID: 28331055 Free PMC article. Clinical Trial.
In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDXI).
Wengler GS, Lanfranchi A, Frusca T, Verardi R, Neva A, Brugnoni D, Giliani S, Fiorini M, Mella P, Guandalini F, Mazzolari E, Pecorelli S, Notarangelo LD, Porta F, Ugazio AG. Wengler GS, et al. Among authors: notarangelo ld. Lancet. 1996 Nov 30;348(9040):1484-7. doi: 10.1016/s0140-6736(96)09392-0. Lancet. 1996. PMID: 8942778
RAG and RAG defects.
Notarangelo LD, Villa A, Schwarz K. Notarangelo LD, et al. Curr Opin Immunol. 1999 Aug;11(4):435-42. doi: 10.1016/S0952-7915(99)80073-9. Curr Opin Immunol. 1999. PMID: 10448134 Review.
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
Villa A, Sobacchi C, Notarangelo LD, Bozzi F, Abinun M, Abrahamsen TG, Arkwright PD, Baniyash M, Brooks EG, Conley ME, Cortes P, Duse M, Fasth A, Filipovich AM, Infante AJ, Jones A, Mazzolari E, Muller SM, Pasic S, Rechavi G, Sacco MG, Santagata S, Schroeder ML, Seger R, Strina D, Ugazio A, Väliaho J, Vihinen M, Vogler LB, Ochs H, Vezzoni P, Friedrich W, Schwarz K. Villa A, et al. Among authors: notarangelo ld. Blood. 2001 Jan 1;97(1):81-8. doi: 10.1182/blood.v97.1.81. Blood. 2001. PMID: 11133745 Free article.
Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience.
Mazzolari E, Moshous D, Forino C, De Martiis D, Offer C, Lanfranchi A, Giliani S, Imberti L, Pasic S, Ugazio AG, Porta F, Notarangelo LD. Mazzolari E, et al. Among authors: notarangelo ld. Bone Marrow Transplant. 2005 Jul;36(2):107-14. doi: 10.1038/sj.bmt.1705017. Bone Marrow Transplant. 2005. PMID: 15908971
Bone marrow transplantation for severe combined immune deficiency.
Grunebaum E, Mazzolari E, Porta F, Dallera D, Atkinson A, Reid B, Notarangelo LD, Roifman CM. Grunebaum E, et al. Among authors: notarangelo ld. JAMA. 2006 Feb 1;295(5):508-18. doi: 10.1001/jama.295.5.508. JAMA. 2006. PMID: 16449616
Stem cell transplantation for the Wiskott-Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation.
Pai SY, DeMartiis D, Forino C, Cavagnini S, Lanfranchi A, Giliani S, Moratto D, Mazza C, Porta F, Imberti L, Notarangelo LD, Mazzolari E. Pai SY, et al. Among authors: notarangelo ld. Bone Marrow Transplant. 2006 Nov;38(10):671-9. doi: 10.1038/sj.bmt.1705512. Epub 2006 Oct 2. Bone Marrow Transplant. 2006. PMID: 17013426
G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms.
Donini M, Fontana S, Savoldi G, Vermi W, Tassone L, Gentili F, Zenaro E, Ferrari D, Notarangelo LD, Porta F, Facchetti F, Notarangelo LD, Dusi S, Badolato R. Donini M, et al. Among authors: notarangelo ld. Blood. 2007 Jun 1;109(11):4716-23. doi: 10.1182/blood-2006-09-045427. Epub 2007 Feb 20. Blood. 2007. PMID: 17311988 Free article.
766 results