Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Edyta, Niewiadomska"'
Publikováno v:
Pediatria Polska. 92:325-329
Disseminated intravascular coagulation (DIC) is usually observed in acute promielocytic leukemia (AML-M3). DIC is diagnosed in other types of acute myeloid leukemia less frequently, but among them, the largest percentage applies to patients with acut
Autor:
Paweł Łaguna, Agata Sobocińska-Mirska, Edyta Niewiadomska, Anna Klukowska, Iwona Malinowska, Paweł Włodarski, Barbara Sikorska-Fic, Michał Matysiak, Łukasz Hutnik
Publikováno v:
Pediatria Polska. 92:1-10
According to WHO classification, classic myeloproliferative neoplasms (MPN) without Philadelphia chromosome include polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). The discoveries in recent years revealed molec
Autor:
Aaron Cheng, David J. Amor, Colin A. Sieff, Nour J. Abdulhay, Claudia Fiorini, David G. Nathan, Beryl B. Cummings, Bertil Glader, Leif S. Ludwig, Peter E. Newburger, Stacey Gabriel, Giulio Genovese, Anupama Narla, Daniel G. MacArthur, Shideh Kazerounian, Alan H. Beggs, Edyta Niewiadomska, Namrata Gupta, Elaine T. Lim, Ron Do, Adrianna Vlachos, Casie A. Genetti, Katherine R. Chao, Pierre-Emmanuel Gleizes, Jeffrey M. Verboon, Jeffrey M. Lipton, Hanna T. Gazda, Lydie Da Costa, Jacob C. Ulirsch, Andrei A. Korostelev, Robert E. Handsaker, Eric S. Lander, Daniel Yuan, Steven A. McCarroll, Michał Matysiak, Vijay G. Sankaran, Monkol Lek, Michael H. Guo, Eva Atsidaftos, Anne H. O’Donnell-Luria, Marie-Françoise O'Donohue, Nathalie Montel-Lehry
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 103 (6), pp.930-947. ⟨10.1016/j.ajhg.2018.10.027⟩
Prof. Lander via Courtney Crummett
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 103 (6), pp.930-947. ⟨10.1016/j.ajhg.2018.10.027⟩
Prof. Lander via Courtney Crummett
Diamond-Blackfan anemia (DBA) is a rare bone marrow failure disorder that affects 1 in 100,000 to 200,000 live births and has been associated with mutations in components of the ribosome. In order to characterize the genetic landscape of this genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92b986a5d91a95cc9f563054c8ec96f0
https://hal.archives-ouvertes.fr/hal-02328160
https://hal.archives-ouvertes.fr/hal-02328160
Autor:
Edyta Niewiadomska, Kelsie Storm, Suneet Agarwal, Aneta Pobudejska-Pieniazek, Halina Bubała, Roxanne Ghazvinian, Magdalena Mazur-Popinska, Krzysztof Kałwak, Mary Jane Petruzzi, Mark D. Fleming, Salley G. Pels, Meghan A. Higman, Rebecca L. Zon, Hanna T. Gazda, Sydonia Golebiowska, Peter Kurre, Tomasz Szczepański, Daniel Yuan, Michał Matysiak, Katelyn E. Gagne, Laura Andolina
Publikováno v:
Blood. 124:437-440
Pearson marrow pancreas syndrome (PS) is a multisystem disorder caused by mitochondrial DNA (mtDNA) deletions. Diamond-Blackfan anemia (DBA) is a congenital hypoproliferative anemia in which mutations in ribosomal protein genes and GATA1 have been im
Autor:
Christopher Buros, Roxanne Ghazvinian, Marie-Françoise O'Donohue, Bertil Glader, Colin A. Sieff, Michał Matysiak, Michael Landowski, Hanna T. Gazda, Jeffrey M. Lipton, Alan H. Beggs, Edyta Niewiadomska, Eva Atsidaftos, Adrianna Vlachos, Peter E. Newburger, Pierre-Emmanuel Gleizes, Nathalie Montel-Lehry
Publikováno v:
Human Genetics
Human Genetics, Springer Verlag, 2013, 132 (11), pp.1265-1274. ⟨10.1007/s00439-013-1326-z⟩
Human Genetics, Springer Verlag, 2013, 132 (11), pp.1265-1274. ⟨10.1007/s00439-013-1326-z⟩
Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents during the first year of life. The main features of the disease are normochromic and macrocyctic anemia, reticulocytopenia, and nearly absent erythroid progeni
Autor:
Leana Doherty, Adrianna Vlachos, Eva Atsidaftos, Antonis Kattamis, Stella M. Davies, Michał Matysiak, Christopher Buros, Alan H. Beggs, Edyta Niewiadomska, Colin A. Sieff, Jeffrrey M. Lipton, Milena Preti, Michael Landowski, Marie-Françoise O'Donohue, Roxanne Ghazvinian, Pierre-Emmanuel Gleizes, Mee Rie Sheen, Hanna T. Gazda, Bertil Glader, Peter E. Newburger
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2012, 33 (7), pp.1037-1044. ⟨10.1002/humu.22081⟩
Human Mutation, Wiley, 2012, epub ahead of print. ⟨10.1002/humu.22081⟩
Human Mutation, Wiley, 2012, 33 (7), pp.1037-1044. ⟨10.1002/humu.22081⟩
Human Mutation, Wiley, 2012, epub ahead of print. ⟨10.1002/humu.22081⟩
International audience; Diamond-Blackfan anemia (DBA) is an inherited form of pure red cell aplasia that usually presents in infancy or early childhood and is associated with congenital malformations in ∼30-50% of patients. DBA has been associated
Autor:
Valérie Choesmel, Jason E. Farrar, Peter E. Newburger, Bertil Glader, Marie-Françoise O'Donohue, Hanna T. Gazda, Catherine Clinton, Sarah E. Ball, Eva Atsidaftos, Michał Matysiak, Mee Rie Sheen, Leana Doherty, Edyta Niewiadomska, Hal E. Schneider, Robert J. Arceci, Adrianna Vlachos, Colin A. Sieff, Jeffrey M. Lipton, Pierre-Emmanuel Gleizes
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2010, 86 (2), pp.222-228. ⟨10.1016/j.ajhg.2009.12.015⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2010, 86 (2), pp.222-8. ⟨10.1016/j.ajhg.2009.12.015⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2010, 86 (2), pp.222-228. ⟨10.1016/j.ajhg.2009.12.015⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2010, 86 (2), pp.222-8. ⟨10.1016/j.ajhg.2009.12.015⟩
International audience; Diamond-Blackfan anemia (DBA), an inherited bone marrow failure syndrome characterized by anemia that usually presents before the first birthday or in early childhood, is associated with birth defects and an increased risk of
Autor:
Ewa Zdebska, Edyta Niewiadomska, Małgorzata Ciebiera, Agata Sobocińska-Mirska, Justyna Spychalska, Anna Szmydki-Baran, Michał Matysiak, Alicja Siwicka, Sydonia Gołębiowska-Staroszczyk, Anna Adamowicz-Salach, Katarzyna Albrecht-Stanisławska, Gabriela Smoleńska-Sym, Michał Romiszewski
Publikováno v:
Pediatria Polska. 84:419-422
Streszczenie Sferocytoza wrodzona nalezy do najcześciej wystepujących wrodzonych niedokrwistości hemolitycznych. Cel pracy Celem pracy byla ocena przydatności cytometrycznej analizy bialek cytoszkieletu i blon krwinek czerwonych w rozpoznawaniu w
Autor:
Edyta Niewiadomska, Justyna Bednarz, Michał Matysiak, Agata Sobocińska-Mirska, Katarzyna Albrecht-Stanisławska, Monika Pelc-Kłopotowska, Anna Adamowicz-Salach, Sydonia Gołębiowska-Staroszczyk, Bogumiła Michalewska
Publikováno v:
Pediatria Polska. 84:46-52
Streszczenie Napadowa zimna hemoglobinuria (NZH) jest rzadko wystepującą postacią niedokrwistości hemolitycznej. Cechuje sie wystąpieniem masywnej hemolizy z hemoglobinurią po ekspozycji na zimno. Jej przyczyną są hemolizyny Donatha-Landstein
Autor:
Steven R. Ellis, Alan H. Beggs, Edyta Niewiadomska, Robert J. Arceci, Colin A. Sieff, Agnieszka Grabowska, Jeanne Kowalski, Michael A. McDevitt, Jeffrey M. Lipton, C. Conover Talbot, Michelle Nater, Sarah E. Ball, Diane Esposito, Emi Caywood, Clifford M. Takemoto, Adrianna Vlachos, Hal E. Schneider, Paul S. Meltzer, Eva Atsidaftos, Jason E. Farrar, Hanna T. Gazda
Publikováno v:
Blood. 112:1582-1592
Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by anemia, congenital abnormalities, and cancer predisposition. Small ribosomal subunit genes RPS19, RPS24, and RPS17 are mutated in approximately one-third of p