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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. Among authors: chrzanowska kh. 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.
New mutations in the ATM gene and clinical data of 25 AT patients.
Demuth I, Dutrannoy V, Marques W Jr, Neitzel H, Schindler D, Dimova PS, Chrzanowska KH, Bojinova V, Gregorek H, Graul-Neumann LM, von Moers A, Schulze I, Nicke M, Bora E, Cankaya T, Oláh É, Kiss C, Bessenyei B, Szakszon K, Gruber-Sedlmayr U, Kroisel PM, Sodia S, Goecke TO, Dörk T, Digweed M, Sperling K, de Sá J, Lourenco CM, Varon R. Demuth I, et al. Among authors: chrzanowska kh. Neurogenetics. 2011 Nov;12(4):273-82. doi: 10.1007/s10048-011-0299-0. Epub 2011 Oct 2. Neurogenetics. 2011. PMID: 21965147
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. Among authors: chrzanowska kh. 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
Nijmegen breakage syndrome: Long-term monitoring of viral and immunological biomarkers in peripheral blood before development of malignancy.
Gregorek H, Chrzanowska KH, Dzierzanowska-Fangrat K, Wakulińska A, Pietrucha B, Zapaśnik A, Zborowska M, Pac M, Smółka-Afifi D, Kasztelewicz B, Piekutowska-Abramczuk D, Małdyk J. Gregorek H, et al. Among authors: chrzanowska kh. Clin Immunol. 2010 Jun;135(3):440-7. doi: 10.1016/j.clim.2010.01.008. Epub 2010 Feb 18. Clin Immunol. 2010. PMID: 20167538
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. 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
145 results