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The TREC/KREC assay for the diagnosis and monitoring of patients with DiGeorge syndrome.
Froňková E, Klocperk A, Svatoň M, Nováková M, Kotrová M, Kayserová J, Kalina T, Keslová P, Votava F, Vinohradská H, Freiberger T, Mejstříková E, Trka J, Sedivá A. Froňková E, et al. Among authors: svaton m. PLoS One. 2014 Dec 8;9(12):e114514. doi: 10.1371/journal.pone.0114514. eCollection 2014. PLoS One. 2014. PMID: 25485546 Free PMC article.
Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation.
Bloomfield M, Kanderová V, Paračková Z, Vrabcová P, Svatoň M, Froňková E, Fejtková M, Zachová R, Rataj M, Zentsová I, Milota T, Klocperk A, Kalina T, Šedivá A. Bloomfield M, et al. Among authors: svaton m. J Clin Immunol. 2018 Jul;38(5):589-601. doi: 10.1007/s10875-018-0519-6. Epub 2018 Jun 22. J Clin Immunol. 2018. PMID: 29934865
Quality control and quantification in IG/TR next-generation sequencing marker identification: protocols and bioinformatic functionalities by EuroClonality-NGS.
Knecht H, Reigl T, Kotrová M, Appelt F, Stewart P, Bystry V, Krejci A, Grioni A, Pal K, Stranska K, Plevova K, Rijntjes J, Songia S, Svatoň M, Froňková E, Bartram J, Scheijen B, Herrmann D, García-Sanz R, Hancock J, Moppett J, van Dongen JJM, Cazzaniga G, Davi F, Groenen PJTA, Hummel M, Macintyre EA, Stamatopoulos K, Trka J, Langerak AW, Gonzalez D, Pott C, Brüggemann M, Darzentas N; EuroClonality-NGS Working Group. Knecht H, et al. Among authors: svaton m. Leukemia. 2019 Sep;33(9):2254-2265. doi: 10.1038/s41375-019-0499-4. Epub 2019 Jun 21. Leukemia. 2019. PMID: 31227779 Free PMC article.
Standardized next-generation sequencing of immunoglobulin and T-cell receptor gene recombinations for MRD marker identification in acute lymphoblastic leukaemia; a EuroClonality-NGS validation study.
Brüggemann M, Kotrová M, Knecht H, Bartram J, Boudjogrha M, Bystry V, Fazio G, Froňková E, Giraud M, Grioni A, Hancock J, Herrmann D, Jiménez C, Krejci A, Moppett J, Reigl T, Salson M, Scheijen B, Schwarz M, Songia S, Svaton M, van Dongen JJM, Villarese P, Wakeman S, Wright G, Cazzaniga G, Davi F, García-Sanz R, Gonzalez D, Groenen PJTA, Hummel M, Macintyre EA, Stamatopoulos K, Pott C, Trka J, Darzentas N, Langerak AW; EuroClonality-NGS working group. Brüggemann M, et al. Among authors: svaton m. Leukemia. 2019 Sep;33(9):2241-2253. doi: 10.1038/s41375-019-0496-7. Epub 2019 Jun 26. Leukemia. 2019. PMID: 31243313 Free PMC article.
Screening of monogenic autoimmune diabetes among children with type 1 diabetes and multiple autoimmune diseases: is it worth doing?
Strakova V, Elblova L, Johnson MB, Dusatkova P, Obermannova B, Petruzelkova L, Kolouskova S, Snajderova M, Fronkova E, Svaton M, Lebl J, Hattersley AT, Sumnik Z, Pruhova S. Strakova V, et al. Among authors: svaton m. J Pediatr Endocrinol Metab. 2019 Oct 25;32(10):1147-1153. doi: 10.1515/jpem-2019-0261. J Pediatr Endocrinol Metab. 2019. PMID: 31483759 Clinical Trial.
Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement.
Formankova R, Kanderova V, Rackova M, Svaton M, Brdicka T, Riha P, Keslova P, Mejstrikova E, Zaliova M, Freiberger T, Grombirikova H, Zemanova Z, Vlkova M, Fencl F, Copova I, Bronsky J, Jabandziev P, Sedlacek P, Soukalova J, Zapletal O, Stary J, Trka J, Kalina T, Skvarova Kramarzova K, Hlavackova E, Litzman J, Fronkova E. Formankova R, et al. Among authors: svaton m. Front Immunol. 2019 Sep 18;10:2194. doi: 10.3389/fimmu.2019.02194. eCollection 2019. Front Immunol. 2019. PMID: 31620126 Free PMC article.
Heterologous Cytomegalovirus and Allo-Reactivity by Shared T Cell Receptor Repertoire in Kidney Transplantation.
Stranavova L, Pelak O, Svaton M, Hruba P, Fronkova E, Slavcev A, Osickova K, Maluskova J, Hubacek P, Fronek J, Reinke P, Volk HD, Kalina T, Viklicky O. Stranavova L, et al. Among authors: svaton m. Front Immunol. 2019 Oct 31;10:2549. doi: 10.3389/fimmu.2019.02549. eCollection 2019. Front Immunol. 2019. PMID: 31736968 Free PMC article. Clinical Trial.
Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency.
Parackova Z, Bloomfield M, Vrabcova P, Zentsova I, Klocperk A, Milota T, Svaton M, Casanova JL, Bustamante J, Fronkova E, Sediva A. Parackova Z, et al. Among authors: svaton m. J Clin Immunol. 2020 Jan;40(1):165-178. doi: 10.1007/s10875-019-00720-6. Epub 2019 Nov 23. J Clin Immunol. 2020. PMID: 31760574
A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia.
Svaton M, Skvarova Kramarzova K, Kanderova V, Mancikova A, Smisek P, Jesina P, Krijt J, Stiburkova B, Dobrovolny R, Sokolova J, Bakardjieva-Mihaylova V, Vodickova E, Rackova M, Stuchly J, Kalina T, Stary J, Trka J, Fronkova E, Kozich V. Svaton M, et al. Blood. 2020 Jun 25;135(26):2427-2431. doi: 10.1182/blood.2019003178. Blood. 2020. PMID: 32276275 Free PMC article. No abstract available.
74 results