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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: fencl f. Front Immunol. 2019 Sep 18;10:2194. doi: 10.3389/fimmu.2019.02194. eCollection 2019. Front Immunol. 2019. PMID: 31620126 Free PMC article.
Paediatric Home Parenteral Nutrition in the Czech Republic and Its Development: Multicentre Retrospective Study 1995-2011.
Stýblová J, Kalousová J, Adamcová M, Bajerová K, Bronský J, Fencl F, Karásková E, Keslová P, Melek J, Pozler O, Sebroň V, Šuláková A, Tejnická J, Tláskal P, Tomášek L, Vlková B, Szitányi P; Czech Home Parenteral Nutrition Group of the Society of Clinical Nutrition and Intensive Metabolic Care. Stýblová J, et al. Among authors: fencl f. Ann Nutr Metab. 2017;71(1-2):99-106. doi: 10.1159/000479339. Epub 2017 Jul 29. Ann Nutr Metab. 2017. PMID: 28768249
Revising pathogenesis of AP1S1-related MEDNIK syndrome: a missense variant in the AP1S1 gene as a causal genetic lesion.
Rackova M, Mattera R, Svaton M, Fencl F, Kanderova V, Spicakova K, Park SY, Fabian O, Koblizek M, Fronkova E, Bonifacino JS, Skvarova Kramarzova K. Rackova M, et al. Among authors: fencl f. J Mol Med (Berl). 2024 Nov;102(11):1343-1353. doi: 10.1007/s00109-024-02482-0. Epub 2024 Sep 13. J Mol Med (Berl). 2024. PMID: 39269494 Free PMC article.
Nationwide observational study of paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS) in the Czech Republic.
David J, Stara V, Hradsky O, Tuckova J, Slaba K, Jabandziev P, Sasek L, Huml M, Zidkova I, Pavlicek J, Palatova A, Klaskova E, Banszka K, Terifajova E, Vyhnanek R, Bloomfield M, Fingerhutova S, Dolezalova P, Prochazkova L, Chramostova G, Fencl F, Lebl J. David J, et al. Among authors: fencl f. Eur J Pediatr. 2022 Oct;181(10):3663-3672. doi: 10.1007/s00431-022-04593-7. Epub 2022 Aug 20. Eur J Pediatr. 2022. PMID: 35987943 Free PMC article.
Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.
Schwabova J, Brozkova DS, Petrak B, Mojzisova M, Pavlickova K, Haberlova J, Mrazkova L, Hedvicakova P, Hornofova L, Kaluzova M, Fencl F, Krutova M, Zamecnik J, Seeman P. Schwabova J, et al. Among authors: fencl f. J Neurogenet. 2013 Dec;27(4):163-9. doi: 10.3109/01677063.2013.814651. Epub 2013 Jul 25. J Neurogenet. 2013. PMID: 23883322
46 results