Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Sandra Urbaniak"'
Publikováno v:
Postepy biochemii. 65(3)
Rokitnik zwyczajny to roślina bogata w liczne składniki biologicznie ak-tywne, takie jak: witaminy, flawonoidy, karotenoidy czy nienasycone kwa-sy tłuszczowe, mające korzystny wpływ na zdrowie człowieka. Roślina ta zasługuje na szczególne za
Autor:
Barbara De Moerloose, Axel Karow, Marcin W. Wlodarski, Shinsuke Hirabayashi, Charlotte M. Niemeyer, Franco Locatelli, Sandra Urbaniak, Henrik Hasle, Brigitte Strahm, Selin Aytag, Marry M. van den Heuvel, Brigitte Schlegelberger, Markus Schmugge, Annamaria Cseh, Michael Dworzak, Albert Català, Jan Stary, Owen P. Smith, Gudrun Göhring, Claudia Wehr, Ales Janda, Irith Baumann
Publikováno v:
Blood. 120:1699-1699
Abstract 1699 Haploinsufficiency of GATA2 results in three overlapping clinical entities unified by the predisposition to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML): i) familial MDS/AML, ii) Emberger syndrome, and iii) an immunod
Autor:
Irith Baumann, Shinsuke Hirabayashi, Ayami Yoshimi-Noellke, Peter Noellke, Sandra Urbaniak, Wilfried Truckenmüller, Alexandra Fischer, Ingrid Furlan, Brigitte Schlegelberger, Marcin W. Wlodarski, Brigitte Strahm, Charlotte M. Niemeyer
Publikováno v:
Blood. 120:644-644
Abstract 644 Refractory cytopenia of the childhood (RCC) and severe aplastic anemia (SAA) are the most common causes of acquired hypoplastic bone marrow failure (BMF) in children. Although predisposing genetic factors and inciting immunological event
Autor:
Tamas Farkas, Gunda Ruzaike, Marcin W. Wlodarski, Charlotte M. Niemeyer, Jessica Moetter, Alyson W. MacInnes, Paul B. Essers, Friedrich G. Kapp, Alexandra Fischer, Joerg J Meerpohl, Shinsuke Hirabayashi, Sandra Urbaniak
Publikováno v:
ResearcherID
Abstract 1267 Diamond Blackfan anemia (DBA) has been established as a ribosomopathy and results in the majority of cases from the haploinsufficiency of genes coding for ribosomal proteins (RP). So far, 12 cytoplasmic RP genes (S7, S10, S17, S19, S24,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1060bfbda96dd1585ca31316c30d597
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000313838902299&KeyUID=WOS:000313838902299
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000313838902299&KeyUID=WOS:000313838902299
Autor:
Jessica Moetter, Charlotte M. Niemeyer, Joerg J Meerpohl, Peter Noellke, Thorsten Simon, Christian P. Kratz, Shinsuke Hirabayashi, Mutlu Kartal, Alexandra Fischer, Sandra Urbaniak, Marcin W. Wlodarski, Friedrich G. Kapp
Publikováno v:
ResearcherID
Abstract 729 On behalf of the German DBA registry. The first two authors contributed equally. Mutations of ribosomal protein (RP) genes cause diamond blackfan anemia (DBA), a congenital bone marrow failure syndrome characterized by erythroid failure
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7315c7c792497059667d70ff519a1d18
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000299597100730&KeyUID=WOS:000299597100730
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000299597100730&KeyUID=WOS:000299597100730
Autor:
Sandra Urbaniak, Manfred Fliegauf, Charlotte M. Niemeyer, Mihaela Pali, Peter Noellke, Joerg J Meerpohl, Jessica Moetter, Alexandra Fischer, Lydie Da Costa, Marcin W. Wlodarski, Mutlu Kartal
Publikováno v:
ResearcherID
Abstract 2244 In the current study, 122 index patients in addition to parents with DBA registered in the observational DBA study were screened for mutations in the aforementioned 11 genes. Overall, we detected mutations in 51% (n=62) of index patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2312fbea50b10a1c85d10ddd5e9d121e
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000289662202467&KeyUID=WOS:000289662202467
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000289662202467&KeyUID=WOS:000289662202467
Autor:
Sandra Urbaniak, Walter G. Whitford
Publikováno v:
The Southwestern Naturalist. 28:111