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Hematologically important mutations: X-linked chronic granulomatous disease (fourth update).
Roos D, van Leeuwen K, Hsu AP, Priel DL, Begtrup A, Brandon R, Stasia MJ, Bakri FG, Köker N, Köker MY, Madkaika M, de Boer M, Garcia-Morato MB, Shephard JLV, Roesler J, Kanegane H, Kawai T, Di Matteo G, Shahrooei M, Bustamante J, Rawat A, Vignesh P, Mortaz E, Fayezi A, Cagdas D, Tezcan I, Kitcharoensakkul M, Dinauer MC, Meyts I, Wolach B, Condino-Neto A, Zerbe CS, Holland SM, Malech HL, Gallin JI, Kuhns DB. Roos D, et al. Among authors: roesler j. Blood Cells Mol Dis. 2021 Sep;90:102587. doi: 10.1016/j.bcmd.2021.102587. Epub 2021 Jun 2. Blood Cells Mol Dis. 2021. PMID: 34175765 Review.
Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).
Roos D, Kuhns DB, Maddalena A, Bustamante J, Kannengiesser C, de Boer M, van Leeuwen K, Köker MY, Wolach B, Roesler J, Malech HL, Holland SM, Gallin JI, Stasia MJ. Roos D, et al. Among authors: roesler j. Blood Cells Mol Dis. 2010 Apr 15;44(4):291-9. doi: 10.1016/j.bcmd.2010.01.009. Epub 2010 Feb 18. Blood Cells Mol Dis. 2010. PMID: 20167518 Free PMC article. Review.
Hematologically important mutations: X-linked chronic granulomatous disease (third update).
Roos D, Kuhns DB, Maddalena A, Roesler J, Lopez JA, Ariga T, Avcin T, de Boer M, Bustamante J, Condino-Neto A, Di Matteo G, He J, Hill HR, Holland SM, Kannengiesser C, Köker MY, Kondratenko I, van Leeuwen K, Malech HL, Marodi L, Nunoi H, Stasia MJ, Ventura AM, Witwer CT, Wolach B, Gallin JI. Roos D, et al. Among authors: roesler j. Blood Cells Mol Dis. 2010 Oct 15;45(3):246-65. doi: 10.1016/j.bcmd.2010.07.012. Epub 2010 Aug 21. Blood Cells Mol Dis. 2010. PMID: 20729109 Free PMC article. Review.
Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update).
Roos D, van Leeuwen K, Hsu AP, Priel DL, Begtrup A, Brandon R, Rawat A, Vignesh P, Madkaikar M, Stasia MJ, Bakri FG, de Boer M, Roesler J, Köker N, Köker MY, Jakobsen M, Bustamante J, Garcia-Morato MB, Shephard JLV, Cagdas D, Tezcan I, Sherkat R, Mortaz E, Fayezi A, Shahrooei M, Wolach B, Blancas-Galicia L, Kanegane H, Kawai T, Condino-Neto A, Vihinen M, Zerbe CS, Holland SM, Malech HL, Gallin JI, Kuhns DB. Roos D, et al. Among authors: roesler j. Blood Cells Mol Dis. 2021 Dec;92:102596. doi: 10.1016/j.bcmd.2021.102596. Epub 2021 Jul 28. Blood Cells Mol Dis. 2021. PMID: 34547651
Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD).
Gentsch M, Kaczmarczyk A, van Leeuwen K, de Boer M, Kaus-Drobek M, Dagher MC, Kaiser P, Arkwright PD, Gahr M, Rösen-Wolff A, Bochtler M, Secord E, Britto-Williams P, Saifi GM, Maddalena A, Dbaibo G, Bustamante J, Casanova JL, Roos D, Roesler J. Gentsch M, et al. Among authors: roesler j. Hum Mutat. 2010 Feb;31(2):151-8. doi: 10.1002/humu.21156. Hum Mutat. 2010. PMID: 19953534 Free article.
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: roesler j. PLoS One. 2009;4(4):e5234. doi: 10.1371/journal.pone.0005234. Epub 2009 Apr 21. PLoS One. 2009. PMID: 19381301 Free PMC article.
Neutrophil oxidative burst activates ATM to regulate cytokine production and apoptosis.
Harbort CJ, Soeiro-Pereira PV, von Bernuth H, Kaindl AM, Costa-Carvalho BT, Condino-Neto A, Reichenbach J, Roesler J, Zychlinsky A, Amulic B. Harbort CJ, et al. Among authors: roesler j. Blood. 2015 Dec 24;126(26):2842-51. doi: 10.1182/blood-2015-05-645424. Epub 2015 Oct 21. Blood. 2015. PMID: 26491069 Free PMC article.
197 results