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Page 1
Chronic granulomatous disease: the European experience.
van den Berg JM, van Koppen E, Ahlin A, Belohradsky BH, Bernatowska E, Corbeel L, Español T, Fischer A, Kurenko-Deptuch M, Mouy R, Petropoulou T, Roesler J, Seger R, Stasia MJ, Valerius NH, Weening RS, Wolach B, Roos D, Kuijpers TW. van den Berg JM, et al. Among authors: fischer a. PLoS One. 2009;4(4):e5234. doi: 10.1371/journal.pone.0005234. Epub 2009 Apr 21. PLoS One. 2009. PMID: 19381301 Free PMC article.
Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: a survey of the European experience, 1985-2000.
Seger RA, Gungor T, Belohradsky BH, Blanche S, Bordigoni P, Di Bartolomeo P, Flood T, Landais P, Müller S, Ozsahin H, Passwell JH, Porta F, Slavin S, Wulffraat N, Zintl F, Nagler A, Cant A, Fischer A. Seger RA, et al. Among authors: fischer a. Blood. 2002 Dec 15;100(13):4344-50. doi: 10.1182/blood-2002-02-0583. Epub 2002 Aug 8. Blood. 2002. PMID: 12393596 Free article. Review.
Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study.
Güngör T, Teira P, Slatter M, Stussi G, Stepensky P, Moshous D, Vermont C, Ahmad I, Shaw PJ, Telles da Cunha JM, Schlegel PG, Hough R, Fasth A, Kentouche K, Gruhn B, Fernandes JF, Lachance S, Bredius R, Resnick IB, Belohradsky BH, Gennery A, Fischer A, Gaspar HB, Schanz U, Seger R, Rentsch K, Veys P, Haddad E, Albert MH, Hassan M; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation. Güngör T, et al. Among authors: fischer a. Lancet. 2014 Feb 1;383(9915):436-48. doi: 10.1016/S0140-6736(13)62069-3. Epub 2013 Oct 23. Lancet. 2014. PMID: 24161820 Clinical Trial.
Epidemiology and outcome of invasive fungal diseases in patients with chronic granulomatous disease: a multicenter study in France.
Beauté J, Obenga G, Le Mignot L, Mahlaoui N, Bougnoux ME, Mouy R, Gougerot-Pocidalo MA, Barlogis V, Suarez F, Lanternier F, Hermine O, Lecuit M, Blanche S, Fischer A, Lortholary O; French PID Study Group CEREDIH. Beauté J, et al. Among authors: fischer a. Pediatr Infect Dis J. 2011 Jan;30(1):57-62. doi: 10.1097/INF.0b013e3181f13b23. Pediatr Infect Dis J. 2011. PMID: 20700078
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: fischer a. 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.
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.
5,250 results