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Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.
Paděrová J, Holubová A, Simandlová M, Puchmajerová A, Vlčková M, Malíková M, Pourová R, Vejvalková S, Havlovicová M, Šenkeříková M, Ptáková N, Drábová J, Geryk J, Maver A, Křepelová A, Macek M Jr. Paděrová J, et al. Clin Genet. 2016 Sep;90(3):230-7. doi: 10.1111/cge.12754. Epub 2016 Mar 8. Clin Genet. 2016. PMID: 26841933
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
Paderova J, Drabova J, Holubova A, Vlckova M, Havlovicova M, Gregorova A, Pourova R, Romankova V, Moslerova V, Geryk J, Norambuena P, Krulisova V, Krepelova A, Macek M Sr, Macek M Jr. Paderova J, et al. Eur J Med Genet. 2018 Jun;61(6):315-321. doi: 10.1016/j.ejmg.2018.01.005. Epub 2018 Jan 4. Eur J Med Genet. 2018. PMID: 29307790
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Čopíková J, Paděrová J, Románková V, Havlovicová M, Balaščáková M, Zelinová M, Vejvalková Š, Simandlová M, Štěpánková J, Hořínová V, Kantorová E, Křečková G, Pospíšilová J, Boday A, Meszarosová AU, Turnovec M, Votýpka P, Lišková P, Kremlíková Pourová R. Čopíková J, et al. Among authors: paderova j. Ann Hum Genet. 2020 Sep;84(5):380-392. doi: 10.1111/ahg.12386. Epub 2020 May 19. Ann Hum Genet. 2020. PMID: 32427345
Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA.
Krulišová V, Balaščaková M, Skalická V, Piskáčková T, Holubová A, Paděrová J, Křenková P, Dvořáková L, Zemková D, Kračmar P, Chovancová B, Vávrová V, Stambergová A, Votava F, Macek M Jr. Krulišová V, et al. Among authors: paderova j. Eur J Pediatr. 2012 Aug;171(8):1223-9. doi: 10.1007/s00431-012-1747-z. Epub 2012 May 12. Eur J Pediatr. 2012. PMID: 22581207 Clinical Trial.
Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK.
Kanderova V, Svobodova T, Borna S, Fejtkova M, Martinu V, Paderova J, Svaton M, Kralova J, Fronkova E, Klocperk A, Pruhova S, Lee-Kirsch MA, Hornofova L, Koblizek M, Novak P, Zimmermannova O, Parackova Z, Sediva A, Kalina T, Janda A, Kayserova J, Dvorakova M, Macek M, Pohunek P, Sedlacek P, Poh A, Ernst M, Brdicka T, Hrusak O, Lebl J. Kanderova V, et al. Among authors: paderova j. J Allergy Clin Immunol. 2022 Apr;149(4):1464-1472.e3. doi: 10.1016/j.jaci.2021.07.046. Epub 2021 Sep 15. J Allergy Clin Immunol. 2022. PMID: 34536415
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