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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: fronkova e. 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.
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. PLoS One. 2014 Dec 8;9(12):e114514. doi: 10.1371/journal.pone.0114514. eCollection 2014. PLoS One. 2014. PMID: 25485546 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: fronkova e. Horm Res Paediatr. 2017;88(2):160-166. doi: 10.1159/000456544. Epub 2017 Mar 2. Horm Res Paediatr. 2017. PMID: 28253502
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.
Schwab C, Gabrysch A, Olbrich P, Patiño V, Warnatz K, Wolff D, Hoshino A, Kobayashi M, Imai K, Takagi M, Dybedal I, Haddock JA, Sansom DM, Lucena JM, Seidl M, Schmitt-Graeff A, Reiser V, Emmerich F, Frede N, Bulashevska A, Salzer U, Schubert D, Hayakawa S, Okada S, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Sumnik Z, Sediva A, Slatter M, Arkwright PD, Cant A, Lorenz HM, Giese T, Lougaris V, Plebani A, Price C, Sullivan KE, Moutschen M, Litzman J, Freiberger T, van de Veerdonk FL, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Speckmann C, Ehl S, Leichtner A, Blumberg R, Franke A, Snapper S, Zeissig S, Cunningham-Rundles C, Giulino-Roth L, Elemento O, Dückers G, Niehues T, Fronkova E, Kanderová V, Platt CD, Chou J, Chatila TA, Geha R, McDermott E, Bunn S, Kurzai M, Schulz A, Alsina L, Casals F, Deyà-Martinez A, Hambleton S, Kanegane H, Taskén K, Neth O, Grimbacher B. Schwab C, et al. Among authors: fronkova e. J Allergy Clin Immunol. 2018 Dec;142(6):1932-1946. doi: 10.1016/j.jaci.2018.02.055. Epub 2018 May 4. J Allergy Clin Immunol. 2018. PMID: 29729943 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: fronkova e. 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
CVID-Associated Tumors: Czech Nationwide Study Focused on Epidemiology, Immunology, and Genetic Background in a Cohort of Patients With CVID.
Kralickova P, Milota T, Litzman J, Malkusova I, Jilek D, Petanova J, Vydlakova J, Zimulova A, Fronkova E, Svaton M, Kanderova V, Bloomfield M, Parackova Z, Klocperk A, Haviger J, Kalina T, Sediva A. Kralickova P, et al. Among authors: fronkova e. Front Immunol. 2019 Jan 22;9:3135. doi: 10.3389/fimmu.2018.03135. eCollection 2018. Front Immunol. 2019. PMID: 30723478 Free PMC article.
Cotargeting of BCL2 with Venetoclax and MCL1 with S63845 Is Synthetically Lethal In Vivo in Relapsed Mantle Cell Lymphoma.
Prukova D, Andera L, Nahacka Z, Karolova J, Svaton M, Klanova M, Havranek O, Soukup J, Svobodova K, Zemanova Z, Tuskova D, Pokorna E, Helman K, Forsterova K, Pacheco-Blanco M, Vockova P, Berkova A, Fronkova E, Trneny M, Klener P. Prukova D, et al. Among authors: fronkova e. Clin Cancer Res. 2019 Jul 15;25(14):4455-4465. doi: 10.1158/1078-0432.CCR-18-3275. Epub 2019 Apr 19. Clin Cancer Res. 2019. PMID: 31004002
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: fronkova e. 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: fronkova e. 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.
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: fronkova e. Front Immunol. 2019 Sep 18;10:2194. doi: 10.3389/fimmu.2019.02194. eCollection 2019. Front Immunol. 2019. PMID: 31620126 Free PMC article.
79 results