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Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.
Glanzmann B, Möller M, Moncada-Velez M, Peter J, Urban M, van Helden PD, Hoal EG, de Villiers N, Glashoff RH, Nortje R, Bustamante J, Abel L, Casanova JL, Boisson-Dupuis S, Esser M, Kinnear CJ. Glanzmann B, et al. J Clin Immunol. 2018 May;38(4):460-463. doi: 10.1007/s10875-018-0509-8. Epub 2018 May 18. J Clin Immunol. 2018. PMID: 29777412 Free PMC article. No abstract available.
Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa.
Kinnear C, Glanzmann B, Banda E, Schlechter N, Durrheim G, Neethling A, Nel E, Schoeman M, Johnson G, van Helden PD, Hoal EG, Esser M, Urban M, Möller M. Kinnear C, et al. Among authors: glanzmann b. BMC Med Genet. 2017 Mar 14;18(1):26. doi: 10.1186/s12881-017-0388-5. BMC Med Genet. 2017. PMID: 28292286 Free PMC article.
Human whole genome sequencing in South Africa.
Glanzmann B, Jooste T, Ghoor S, Gordon R, Mia R, Mao J, Li H, Charls P, Douman C, Kotze MJ, Peeters AV, Loots G, Esser M, Tiemessen CT, Wilkinson RJ, Louw J, Gray G, Warren RM, Möller M, Kinnear C. Glanzmann B, et al. Sci Rep. 2021 Jan 12;11(1):606. doi: 10.1038/s41598-020-79794-x. Sci Rep. 2021. PMID: 33436733 Free PMC article.
Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.
Engelbrecht C, Urban M, Schoeman M, Paarwater B, van Coller A, Abraham DR, Cornelissen H, Glashoff R, Esser M, Möller M, Kinnear C, Glanzmann B. Engelbrecht C, et al. Among authors: glanzmann b. Front Immunol. 2021 May 21;12:665621. doi: 10.3389/fimmu.2021.665621. eCollection 2021. Front Immunol. 2021. PMID: 34093558 Free PMC article.
31 results