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[Laboratory diagnosis of immunoglobulin deficiencies].
Madaliński K, Gregorek H, Chrzanowska K, Michałkiewicz J, Bernatowska E. Madaliński K, et al. Among authors: chrzanowska k. Postepy Hig Med Dosw. 2002;56 Suppl:13-21. Postepy Hig Med Dosw. 2002. PMID: 12661410 Review. Polish.
Nijmegen breakage syndrome (NBS).
Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M. Chrzanowska KH, et al. Orphanet J Rare Dis. 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. Orphanet J Rare Dis. 2012. PMID: 22373003 Free PMC article. Review.
Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.
Wolska-Kuśnierz B, Gregorek H, Chrzanowska K, Piątosa B, Pietrucha B, Heropolitańska-Pliszka E, Pac M, Klaudel-Dreszler M, Kostyuchenko L, Pasic S, Marodi L, Belohradsky BH, Čižnár P, Shcherbina A, Kilic SS, Baumann U, Seidel MG, Gennery AR, Syczewska M, Mikołuć B, Kałwak K, Styczyński J, Pieczonka A, Drabko K, Wakulińska A, Gathmann B, Albert MH, Skarżyńska U, Bernatowska E; Inborn Errors Working Party of the Society for European Blood and Marrow Transplantation and the European Society for Immune Deficiencies. Wolska-Kuśnierz B, et al. Among authors: chrzanowska k. J Clin Immunol. 2015 Aug;35(6):538-49. doi: 10.1007/s10875-015-0186-9. Epub 2015 Aug 14. J Clin Immunol. 2015. PMID: 26271390
Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients.
van der Burg M, Pac M, Berkowska MA, Goryluk-Kozakiewicz B, Wakulinska A, Dembowska-Baginska B, Gregorek H, Barendregt BH, Krajewska-Walasek M, Bernatowska E, van Dongen JJ, Chrzanowska KH, Langerak AW. van der Burg M, et al. Blood. 2010 Jun 10;115(23):4770-7. doi: 10.1182/blood-2009-10-250514. Epub 2010 Apr 8. Blood. 2010. PMID: 20378756 Free article.
Oral findings in patients with Nijmegen breakage syndrome: a preliminary study.
Gregorek H, Olczak-Kowalczyk D, Dembowska-Bagińska B, Pietrucha B, Wakulińska A, Gozdowski D, Chrzanowska KH. Gregorek H, et al. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009 Nov;108(5):e39-45. doi: 10.1016/j.tripleo.2009.06.032. Epub 2009 Sep 26. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009. PMID: 19782616
155 results