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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.
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
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
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
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.
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.
Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma.
Trubicka J, Filipek I, Iwanowski P, Rydzanicz M, Grajkowska W, Piekutowska-Abramczuk D, Chrzanowska K, Karkucińska-Więckowska A, Iwanicka-Pronicka K, Pronicki M, Łastowska M, Płoski R, Dembowska-Bagińska B. Trubicka J, et al. Cancer Genet. 2017 Oct;216-217:79-85. doi: 10.1016/j.cancergen.2017.07.001. Epub 2017 Jul 20. Cancer Genet. 2017. PMID: 29025599
93 results