Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Marta, Bielska"'
Autor:
Ewelina Bukowska-Olech, Paweł Gawliński, Anna Jakubiuk-Tomaszuk, Maria Jędrzejowska, Ewa Obersztyn, Michał Piechota, Marta Bielska, Aleksander Jamsheer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder that results from pathogenic variants in the EFNB1 gene. The syndrome paradoxically presents with greater severity of the symptoms in heterozygous females than hemizygo
Externí odkaz:
https://doaj.org/article/c556ad21e95f41e689dfb1734e63e949
Autor:
Maria Jędrzejowska, Marta Bielska, Michał Piechota, Ewa Obersztyn, Anna Jakubiuk-Tomaszuk, Aleksander Jamsheer, Pawel Gawlinski, Ewelina Bukowska-Olech
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder that results from pathogenic variants in the EFNB1 gene. The syndrome paradoxically presents with greater severity of the symptoms in heterozygous females than hemizygous males.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a285333f7d121623f26cb60d1218e147
https://doi.org/10.1186/s13023-021-01914-1
https://doi.org/10.1186/s13023-021-01914-1
Autor:
Ewelina Bukowska-Olech, Paweł Gawliński, Anna Jakubiuk-Tomaszuk, Maria Jędrzejowska, Ewa Obersztyn, Michał Piechota, Marta Bielska, Aleksander Jamsheer
Background: Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder that results from pathogenic variants in the EFNB1 gene. The syndrome paradoxically presents with greater severity of the symptoms in heterozygous females than hemizygous males
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ec442ef10edbac8cb898627f7e5875c
https://doi.org/10.21203/rs.3.rs-386853/v1
https://doi.org/10.21203/rs.3.rs-386853/v1
Autor:
Wojciech Młynarski, Julita Borkowska, Katarzyna Bobeff, Katarzyna Bąbol-Pokora, Joanna Trelińska, Katarzyna Kotulska, Marta Bielska, Izabela Jatczak-Pawlik, Sergiusz Jóźwiak
Publikováno v:
European journal of medical genetics. 64(10)
The aim of this study was to evaluate a cost-effective diagnostic strategy for identification of casual variants for tuberous sclerosis complex (TSC) in the Polish population and to correlate the genetic results with selected phenotypic features. Fif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f6749104f60c3f06b236a3577a504dd
https://pubmed.ncbi.nlm.nih.gov/34403804
https://pubmed.ncbi.nlm.nih.gov/34403804
Autor:
Tomasz Ociepa, Grażyna Sobol-Milejska, Monika Lejman, Jerzy Kowalczyk, Wanda Badowska, Michał Matysiak, Alicja Sonsala, Bernarda Kazanowska, Andrzej Kołtan, Katarzyna Derwich, M. Romiszewska, Lukasz Sedek, Wojciech Młynarski, Grażyna Karolczyk, Maciej Niedzwiecki, Patryk Górniak, Joanna Taha, Tomasz Szczepański, Wojciech Fendler, Katarzyna Muszyńska-Rosłan, Agata Pastorczak, Marta Bielska, Joanna Madzio, Magdalena Twardoch, Karin Nebral, Marcin Braun
Publikováno v:
Oncotarget. 9:25971-25982
We prospectively examined whether surface expression of Cytokine Receptor-Like Factor 2 (CRLF2) on leukemic blasts is associated with survival and induction treatment response in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL) patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f0c6b5cce6aecab9163052b1c506578d
https://doi.org/10.18632/oncotarget.25411
https://doi.org/10.18632/oncotarget.25411
Autor:
Tadeusz Robak, Ewa Lech-Marańda, Ewa Kalinka-Warzocha, Marcin Bojo, Gabriela Klimkiewicz-Wojciechowska, Monika Prochorec-Sobieszek, Marta Bielska, Wojciech Młynarski, Krzysztof Warzocha, Dorota Jesionek-Kupnicka, Maciej Borowiec
Publikováno v:
Genes, Chromosomes and Cancer. 54:185-193
The role of HLA-G is extensively studied in cancer due to its inhibition of the immune response. Several polymorphisms in the HLA-G gene have been reported to significantly affect its expression. We, therefore, investigated whether functionally relev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::782259b6be9bdc6c411b981410443aed
https://doi.org/10.1002/gcc.22235
https://doi.org/10.1002/gcc.22235
Autor:
Agata, Pastorczak, Lukasz, Sedek, Marcin, Braun, Joanna, Madzio, Alicja, Sonsala, Magdalena, Twardoch, Wojciech, Fendler, Karin, Nebral, Joanna, Taha, Marta, Bielska, Patryk, Gorniak, Magdalena, Romiszewska, Michal, Matysiak, Katarzyna, Derwich, Monika, Lejman, Jerzy, Kowalczyk, Wanda, Badowska, Maciej, Niedzwiecki, Bernarda, Kazanowska, Katarzyna, Muszynska-Roslan, Grazyna, Sobol-Milejska, Grazyna, Karolczyk, Andrzej, Koltan, Tomasz, Ociepa, Tomasz, Szczepanski, Wojciech, Młynarski
Publikováno v:
Oncotarget
We prospectively examined whether surface expression of Cytokine Receptor-Like Factor 2 (CRLF2) on leukemic blasts is associated with survival and induction treatment response in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL) patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5644c8270d41cfce50c37f47ef94935c
https://pubmed.ncbi.nlm.nih.gov/29899835
https://pubmed.ncbi.nlm.nih.gov/29899835
Autor:
Wojciech Młynarski, Jerzy Kowalczyk, Tomasz Szczepański, Iwona Wlodarska, Bernarda Kazanowska, Monika Lejman, Katarzyna Derwich, Filip Pierlejewski, Wanda Badowska, Michał Matysiak, Joanna Taha, Wojciech Fendler, Marta Bielska, Marcin Braun, Bartłomiej Tomasik, Joanna Trelińska, Agata Pastorczak, Beata Zalewska-Szewczyk, Joanna Madzio, Jan Styczyński, Lukasz Sedek, Nina Irga-Jaworska
Publikováno v:
Leukemialymphoma. 58(5)
The inactivation of tumor suppressor genes located within 9p21 locus (CDKN2A, CDKN2B) occurs in up to 30% of children with B-cell precursor acute lymphoblastic leukemia (BCP-ALL), but its independent prognostic significance remains controversial. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4040841bd1d4e576e71a12e36e95e3da
https://pubmed.ncbi.nlm.nih.gov/27756164
https://pubmed.ncbi.nlm.nih.gov/27756164
Autor:
Marta, Bielska, Marcin, Bojo, Gabriela, Klimkiewicz-Wojciechowska, Dorota, Jesionek-Kupnicka, Maciej, Borowiec, Ewa, Kalinka-Warzocha, Monika, Prochorec-Sobieszek, Tadeusz, Robak, Krzysztof, Warzocha, Wojciech, Młynarski, Ewa, Lech-Maranda
Publikováno v:
Genes, chromosomescancer. 54(3)
The role of HLA-G is extensively studied in cancer due to its inhibition of the immune response. Several polymorphisms in the HLA-G gene have been reported to significantly affect its expression. We, therefore, investigated whether functionally relev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9d581d9d52033014b7e7026f62846046
https://pubmed.ncbi.nlm.nih.gov/25620080
https://pubmed.ncbi.nlm.nih.gov/25620080
Autor:
Marcin Bojo, Marta Bielska, Ewa Kalinka-Warzocha, Gabriela Klimkiewicz-Wojciechowska, Tadeusz Robak, Wojciech Młynarski, Dorota Jesionek-Kupnicka, Krzysztof Warzocha, Monika Prochorec-Sobieszek, Ewa Lech-Marańda, Maciej Borowiec
Publikováno v:
Blood. 124:1643-1643
There is growing evidence that genetic variations in the human leukocyte antigen (HLA) genes play a role in the etiology and clinical course of NHL. HLA-G belongs to the non-classical class I major histocompatibility complex-1 (MHC-I) polymorphic mol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9e010ddefb0bd1872d87aea427a4b36b
https://doi.org/10.1182/blood.v124.21.1643.1643
https://doi.org/10.1182/blood.v124.21.1643.1643