Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Martina Sukova"'
Autor:
Martina Sukova, Ester Mejstrikova, Michaela Reiterova, Marketa Kubricanova-Zaliova, Eva Fronkova, Vit Campr, Zuzana Zemanova, Iveta Janotova, Lucie Sramkova, Jan Stary
Publikováno v:
EJC Paediatric Oncology, Vol 2, Iss , Pp 100075- (2023)
Externí odkaz:
https://doaj.org/article/d635f5a6564c411d9913a17a8d4d117e
Autor:
Miriam Erlacher, Felicia Andresen, Martina Sukova, Jan Stary, Barbara de Moerloose, Jutte van der Werff Ten Bosch, Michael Dworzak, Markus G. Seidel, Sophia Polychronopoulou, Rita Beier, Christian P. Kratz, Michaela Nathrath, Michael C. Frühwald, Gudrun Göhring, Anke K. Bergmann, Christina Mayerhofer, Dirk Lebrecht, Senthilkumar Ramamoorthy, Ayami Yoshimi, Brigitte Strahm, Marcin W. Wlodarski, Charlotte M. Niemeyer
Publikováno v:
Haematologica, Vol 109, Iss 2 (2023)
Monosomy 7 is the most common cytogenetic abnormality in pediatric myelodysplastic syndrome (MDS) and associated with a high risk of disease progression. However, in young children, spontaneous loss of monosomy 7 with concomitant hematologic recovery
Externí odkaz:
https://doaj.org/article/6e53529cf46a4b9fadc250cce7c36618
Autor:
Anne Rensing-Ehl, Ales Janda, Myriam R. Lorenz, Beryl P. Gladstone, Ilka Fuchs, Mario Abinun, Michael Albert, Karina Butler, Andrew Cant, Anna-Maria Cseh, Martin Ebinger, Sigune Goldacker, Sophie Hambleton, Holger Hebart, Leonora Houet, Karim Kentouche, Ingrid Kühnle, Kai Lehmberg, Ester Mejstrikova, Charlotte Niemeyer, Milen Minkov, Olaf Neth, Gregor Dückers, Stephan Owens, Joachim Rösler, Freimut H. Schilling, Volker Schuster, Markus G. Seidel, Petr Smisek, Martina Sukova, Peter Svec, Thomas Wiesel, Benjamin Gathmann, Klaus Schwarz, Werner Vach, Stephan Ehl, Carsten Speckmann
Publikováno v:
Haematologica, Vol 98, Iss 12 (2013)
Clinical and genetic heterogeneity renders confirmation or exclusion of autoimmune lymphoproliferative syndrome difficult. To re-evaluate and improve the currently suggested diagnostic approach to patients with suspected FAS mutation, the most freque
Externí odkaz:
https://doaj.org/article/c2dcea0072414a2b9458bbcb66bb9499
Autor:
Felicia Andresen, Martina Sukova, Jan Stary, Barbara De Moerloose, Jutte Van Der Werff Ten Bosch, Michael Dworzak, Markus G Seidel, Sophia Polychronopoulou, Rita Beier, Christian P. Kratz, Michaela Nathrath, Michael C. Frühwald, Gudrun Göhring, Anke K. Bergmann, Christina Mayerhofer, Natalia Rotari, Dirk Lebrecht, Senthilkumar Ramamoorthy, Ayami Yoshimi, Brigitte Strahm, Marcin W Wlodarski, Charlotte M. Niemeyer, Miriam Erlacher
Publikováno v:
Blood. 140:8678-8679
Autor:
Martina Sukova, Petra Keslova, Petr Sedlacek, Marcela Malikova, Jan Stary, Spiros Tavandzis, Jaroslav Cermak, Petr Smisek
Publikováno v:
Cellular Therapy and Transplantation. 9:48-52
Autor:
Martina Fejtkova, Martina Sukova, Katerina Hlozkova, Karolina Skvarova Kramarzova, Marketa Rackova, David Jakubec, Marina Bakardjieva, Marketa Bloomfield, Adam Klocperk, Zuzana Parackova, Anna Sediva, Jahnavi Aluri, Michaela Novakova, Tomas Kalina, Eva Fronkova, Ondrej Hrusak, Hana Malcova, Petr Sedlacek, Zuzana Liba, Martin Kudr, Jan Stary, Megan A. Cooper, Michael Svaton, Veronika Kanderova
Publikováno v:
American journal of hematologyREFERENCES. 97(3)
Our study presents a novel germline c.1715GT (p.G572V) mutation in the gene encoding Toll-like receptor 8 (TLR8) causing an autoimmune and autoinflammatory disorder in a family with monozygotic male twins, who suffer from severe autoimmune hemolytic
Publikováno v:
Pediatrie pro praxi. 17:173-176
Sedmiměsicni, dosud výhradně kojena divka byla přijata pro bledost, progredujici apatii a hypotonii. Laboratorně zjistěna pancytopenie – normocytarni anemie, trombocytopenie a neutropenie, elevace LDH. Aspirat kostni dřeně byl hypercelularn
Autor:
Jan Blatny, Júlia Horáková, Petr Vojta, Helena Urbankova, Daniela Prochazkova, Jana Volejnikova, Dagmar Pospisilova, Marian Hajduch, Martina Sukova, Jaroslava Feketeova, Jaroslav Cermak, Monika Horvathova, Renata Mojzikova, Eva Bubanska, I. Hochová
Publikováno v:
Blood Cells, Molecules, and Diseases. 81:102380
Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia, underlied by haploinsufficient mutations in genes coding for ribosomal proteins (RP) in approximately 70% of cases. DBA is frequently associated with somatic malformations, endocri
Autor:
Nikos Darzentas, Jan Stary, Ester Mejstrikova, Jan Trka, Eva Fronkova, Michaela Novakova, Dagmar Pospisilova, Veronika Kanderova, Michael Svaton, Ondrej Hrusak, Ondrej Cinek, Martina Sukova, Lenka Kramna
Publikováno v:
Blood. 134:2508-2508
Hepatitis-associated aplastic anemia (HAAA) is a rare variant of bone marrow (BM) failure that is typically diagnosed 2-3 months after an acute attack of hepatitis in patients that are seronegative for known hepatitis viruses. Although very little is
Publikováno v:
European Journal of Pediatrics. 175:587-592
Noonan syndrome (NS) is a genetic condition presenting with typical facies, cardiac defects, short stature, variable developmental deficit, cryptorchidism, skeletal, and other abnormalities. Germline mutations in genes involved in the RAS/MAPK signal