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Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.
Giannelou A, Wang H, Zhou Q, Park YH, Abu-Asab MS, Ylaya K, Stone DL, Sediva A, Sleiman R, Sramkova L, Bhatla D, Serti E, Tsai WL, Yang D, Bishop K, Carrington B, Pei W, Deuitch N, Brooks S, Edwan JH, Joshi S, Prader S, Kaiser D, Owen WC, Sonbul AA, Zhang Y, Niemela JE, Burgess SM, Boehm M, Rehermann B, Chae J, Quezado MM, Ombrello AK, Buckley RH, Grom AA, Remmers EF, Pachlopnik JM, Su HC, Gutierrez-Cruz G, Hewitt SM, Sood R, Risma K, Calvo KR, Rosenzweig SD, Gadina M, Hafner M, Sun HW, Kastner DL, Aksentijevich I. Giannelou A, et al. Among authors: sramkova l. Ann Rheum Dis. 2018 Apr;77(4):612-619. doi: 10.1136/annrheumdis-2017-212401. Epub 2018 Jan 22. Ann Rheum Dis. 2018. PMID: 29358286 Free PMC article.
Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised?
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Sediva H, Dusatkova P, Kanderova V, Obermannova B, Kayserova J, Sramkova L, Zemkova D, Elblova L, Svaton M, Zachova R, Kolouskova S, Fronkova E, Sumnik Z, Sediva A, Lebl J, Pruhova S. Sediva H, et al. Among authors: sramkova l. Horm Res Paediatr. 2017;88(2):160-166. doi: 10.1159/000456544. Epub 2017 Mar 2. Horm Res Paediatr. 2017. PMID: 28253502
TEL/AML1 and immunoreceptor gene rearrangements-which comes first?
Zuna J, Krejci O, Madzo J, Fronkova E, Sramkova L, Hrusak O, Kalina T, Vaskova M, Stary J, Trka J; Czech Paediatric Haematology Working Group (CPH). Zuna J, et al. Among authors: sramkova l. Leuk Res. 2005 Jun;29(6):633-9. doi: 10.1016/j.leukres.2004.11.007. Epub 2005 Jan 18. Leuk Res. 2005. PMID: 15863202
Low mortality of children undergoing hematopoietic stem cell transplantation from 7 to 8/10 human leukocyte antigen allele-matched unrelated donors with the use of antithymocyte globulin.
Sedlácek P, Formánková R, Keslová P, Srámková L, Hubácek P, Król L, Kulich M, Starý J. Sedlácek P, et al. Among authors: sramkova l. Bone Marrow Transplant. 2006 Dec;38(11):745-50. doi: 10.1038/sj.bmt.1705524. Epub 2006 Oct 16. Bone Marrow Transplant. 2006. PMID: 17041606
100 results