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Page 1
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.
Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies.
Chrzanowska KH, Piekutowska-Abramczuk D, Popowska E, Gładkowska-Dura M, Małdyk J, Syczewska M, Krajewska-Walasek M, Goryluk-Kozakiewicz B, Bubała H, Gadomski A, Gaworczyk A, Kazanowska B, Kołtan A, Kuźmicz M, Luszawska-Kutrzeba T, Maciejka-Kapuścińska L, Stolarska M, Stefańska K, Sznurkowska K, Wakulińska A, Wieczorek M, Szczepański T, Kowalczyk J. Chrzanowska KH, et al. Int J Cancer. 2006 Mar 1;118(5):1269-74. doi: 10.1002/ijc.21439. Int J Cancer. 2006. PMID: 16152606
Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.
Ciara E, Piekutowska-Abramczuk D, Popowska E, Grajkowska W, Barszcz S, Perek D, Dembowska-Bagińska B, Perek-Polnik M, Kowalewska E, Czajńska A, Syczewska M, Czornak K, Krajewska-Walasek M, Roszkowski M, Chrzanowska KH. Ciara E, et al. Acta Neuropathol. 2010 Mar;119(3):325-34. doi: 10.1007/s00401-009-0608-y. Epub 2009 Nov 12. Acta Neuropathol. 2010. PMID: 19908051
High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study.
Chrzanowska KH, Szarras-Czapnik M, Gajdulewicz M, Kalina MA, Gajtko-Metera M, Walewska-Wolf M, Szufladowicz-Wozniak J, Rysiewski H, Gregorek H, Cukrowska B, Syczewska M, Piekutowska-Abramczuk D, Janas R, Krajewska-Walasek M. Chrzanowska KH, et al. J Clin Endocrinol Metab. 2010 Jul;95(7):3133-40. doi: 10.1210/jc.2009-2628. Epub 2010 May 5. J Clin Endocrinol Metab. 2010. PMID: 20444919
The frequency of NBN molecular variants in pediatric astrocytic tumors.
Piekutowska-Abramczuk D, Ciara E, Popowska E, Grajkowska W, Dembowska-Bagińska B, Kowalewska E, Czajńska A, Perek-Polnik M, Roszkowski M, Syczewska M, Krajewska-Walasek M, Perek D, Chrzanowska KH. Piekutowska-Abramczuk D, et al. J Neurooncol. 2010 Jan;96(2):161-8. doi: 10.1007/s11060-009-9958-5. Epub 2009 Jul 22. J Neurooncol. 2010. PMID: 19629396
The Dubowitz syndrome--one more case.
Chrzanowska KH, Krajewska-Walasek M. Chrzanowska KH, et al. Klin Padiatr. 1987 Sep-Oct;199(5):370-2. doi: 10.1055/s-2008-1026822. Klin Padiatr. 1987. PMID: 3316825 Review.
Cranial MRI in the Nijmegen breakage syndrome.
Bekiesińska-Figatowska M, Chrzanowska KH, Sikorska J, Walecki J, Krajewska-Walasek M, Jóźwiak S, Kleijer WJ. Bekiesińska-Figatowska M, et al. Neuroradiology. 2000 Jan;42(1):43-7. doi: 10.1007/s002340050011. Neuroradiology. 2000. PMID: 10663471
The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies.
Trubicka J, Żemojtel T, Hecht J, Falana K, Piekutowska-Abramczuk D, Płoski R, Perek-Polnik M, Drogosiewicz M, Grajkowska W, Ciara E, Moszczyńska E, Dembowska-Bagińska B, Perek D, Chrzanowska KH, Krajewska-Walasek M, Łastowska M. Trubicka J, et al. BMC Cancer. 2017 Apr 4;17(1):239. doi: 10.1186/s12885-017-3211-y. BMC Cancer. 2017. PMID: 28376765 Free PMC article.
151 results