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Page 1
Transcriptional profiling of paediatric ependymomas identifies prognostically significant groups.
Łastowska M, Matyja E, Sobocińska A, Wojtaś B, Niemira M, Szałkowska A, Krętowski A, Karkucińska-Więckowska A, Kaleta M, Ejmont M, Tarasińska M, Perek-Polnik M, Dembowska-Bagińska B, Pronicki M, Grajkowska W, Trubicka J. Łastowska M, et al. Among authors: trubicka j. J Pathol Clin Res. 2021 Nov;7(6):565-576. doi: 10.1002/cjp2.236. Epub 2021 Jul 27. J Pathol Clin Res. 2021. PMID: 34314101 Free PMC article.
Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria).
Karkucinska-Wieckowska A, Lebiedzinska M, Jurkiewicz E, Pajdowska M, Trubicka J, Szymanska-Debinska T, Suski J, Pinton P, Duszynski J, Pronicki M, Wieckowski MR, Pronicka E. Karkucinska-Wieckowska A, et al. Among authors: trubicka j. Folia Neuropathol. 2011;49(1):56-63. Folia Neuropathol. 2011. PMID: 21455844 Free article.
Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.
Karkucinska-Wieckowska A, Trubicka J, Werner B, Kokoszynska K, Pajdowska M, Pronicki M, Czarnowska E, Lebiedzinska M, Sykut-Cegielska J, Ziolkowska L, Jaron W, Dobrzanska A, Ciara E, Wieckowski MR, Pronicka E. Karkucinska-Wieckowska A, et al. Among authors: trubicka j. J Inherit Metab Dis. 2013 Nov;36(6):929-37. doi: 10.1007/s10545-013-9584-4. Epub 2013 Jan 30. J Inherit Metab Dis. 2013. PMID: 23361305 Free PMC article.
Contrast enhancement pattern predicts poor survival for patients with non-WNT/SHH medulloblastoma tumours.
Łastowska M, Jurkiewicz E, Trubicka J, Daszkiewicz P, Drogosiewicz M, Malczyk K, Grajkowska W, Matyja E, Cukrowska B, Pronicki M, Perek-Polnik M, Perek D, Dembowska-Bagińska B. Łastowska M, et al. Among authors: trubicka j. J Neurooncol. 2015 May;123(1):65-73. doi: 10.1007/s11060-015-1779-0. Epub 2015 Apr 11. J Neurooncol. 2015. PMID: 25862008 Free PMC article.
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.
Ciara E, Rokicki D, Halat P, Karkucińska-Więckowska A, Piekutowska-Abramczuk D, Mayr J, Trubicka J, Szymańska-Dębińska T, Pronicki M, Pajdowska M, Dudzińska M, Giżewska M, Krajewska-Walasek M, Książyk J, Sperl W, Płoski R, Pronicka E. Ciara E, et al. Among authors: trubicka j. Mol Genet Metab Rep. 2016 Apr 18;7:70-6. doi: 10.1016/j.ymgmr.2016.03.004. eCollection 2016 Jun. Mol Genet Metab Rep. 2016. PMID: 27144126 Free PMC article.
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucińska-Więckowska A, Pajdowska M, Jurkiewicz E, Halat P, Kosińska J, Pollak A, Rydzanicz M, Stawinski P, Pronicki M, Krajewska-Walasek M, Płoski R. Pronicka E, et al. Among authors: trubicka j. J Transl Med. 2016 Jun 12;14(1):174. doi: 10.1186/s12967-016-0930-9. J Transl Med. 2016. PMID: 27290639 Free PMC article.
Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome.
Piekutowska-Abramczuk D, Mierzewska H, Bekiesińska-Figatowska M, Ciara E, Trubicka J, Pronicki M, Rokicki D, Rydzanicz M, Płoski R, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: trubicka j. Folia Neuropathol. 2016;54(4):405-409. doi: 10.5114/fn.2016.64819. Folia Neuropathol. 2016. PMID: 28139822 Free article.
ALK Expression Is a Novel Marker for the WNT-activated Type of Pediatric Medulloblastoma and an Indicator of Good Prognosis for Patients.
Łastowska M, Trubicka J, Niemira M, Paczkowska-Abdulsalam M, Karkucińska-Więckowska A, Kaleta M, Drogosiewicz M, Tarasińska M, Perek-Polnik M, Krętowski A, Dembowska-Bagińska B, Grajkowska W, Pronicki M, Matyja E. Łastowska M, et al. Among authors: trubicka j. Am J Surg Pathol. 2017 Jun;41(6):781-787. doi: 10.1097/PAS.0000000000000847. Am J Surg Pathol. 2017. PMID: 28338501
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.
45 results