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Page 1
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
David J, Chrastina P, Pešková K, Kožich V, Friedecký D, Adam T, Hlídková E, Vinohradská H, Novotná D, Hedelová M, Al Taji E, Holubová A, Skalická V, Macek M, Gaillyová R, Votava F. David J, et al. Among authors: macek m. Cent Eur J Public Health. 2019 Jun;27(2):153-159. doi: 10.21101/cejph.a5441. Cent Eur J Public Health. 2019. PMID: 31241292 Free article.
Pilot newborn screening project for cystic fibrosis in the Czech Republic: defining role of the delay in its symptomatic diagnosis and influence of ultrasound-based prenatal diagnosis on the incidence of the disease.
Balascaková M, Holubová A, Skalická V, Zemková D, Kracmar P, Gonsorcíkova L, Camajová J, Piskácková T, Lebl J, Drevínek P, Gregor V, Vávrová V, Votava F, Macek M Jr. Balascaková M, et al. Among authors: macek m jr. J Cyst Fibros. 2009 May;8(3):224-7. doi: 10.1016/j.jcf.2009.01.002. Epub 2009 Feb 8. J Cyst Fibros. 2009. PMID: 19208501 Free article.
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: macek m jr. 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.
Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.
Křenková P, Piskáčková T, Holubová A, Balaščaková M, Krulišová V, Čamajová J, Turnovec M, Libik M, Norambuena P, Štambergová A, Dvořáková L, Skalická V, Bartošová J, Kučerová T, Fila L, Zemková D, Vávrová V, Koudová M, Macek M, Krebsová A, Macek M Jr. Křenková P, et al. Among authors: macek m, macek m jr. J Cyst Fibros. 2013 Sep;12(5):532-7. doi: 10.1016/j.jcf.2012.12.002. Epub 2012 Dec 29. J Cyst Fibros. 2013. PMID: 23276700 Free article.
A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening.
Weidler S, Stopsack KH, Hammermann J, Sommerburg O, Mall MA, Hoffmann GF, Kohlmüller D, Okun JG, Macek M Jr, Votava F, Krulišová V, Balaščaková M, Skalická V, Lee-Kirsch MA, Stopsack M. Weidler S, et al. Among authors: macek m jr. J Cyst Fibros. 2016 Nov;15(6):752-758. doi: 10.1016/j.jcf.2016.07.002. Epub 2016 Jul 22. J Cyst Fibros. 2016. PMID: 27461140 Free article.
Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations.
Sommerburg O, Krulisova V, Hammermann J, Lindner M, Stahl M, Muckenthaler M, Kohlmueller D, Happich M, Kulozik AE, Votava F, Balascakova M, Skalicka V, Stopsack M, Gahr M, Macek M Jr, Mall MA, Hoffmann GF. Sommerburg O, et al. Among authors: macek m jr. J Cyst Fibros. 2014 Jan;13(1):15-23. doi: 10.1016/j.jcf.2013.06.003. Epub 2013 Jul 25. J Cyst Fibros. 2014. PMID: 23891278 Free article.
Cost-of-illness analysis and regression modeling in cystic fibrosis: a retrospective prevalence-based study.
Mlčoch T, Klimeš J, Fila L, Vávrová V, Skalická V, Turnovec M, Krulišová V, Jirčíková J, Zemková D, Dědečková KV, Bílková A, Frühaufová V, Homola L, Friedmannová Z, Drnek R, Dřevínek P, Doležal T, Macek M Jr. Mlčoch T, et al. Among authors: macek m jr. Eur J Health Econ. 2017 Jan;18(1):73-82. doi: 10.1007/s10198-015-0759-9. Epub 2016 Jan 7. Eur J Health Econ. 2017. PMID: 26743971
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. Among authors: macek m jr. 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. Among authors: macek m sr, macek m jr. 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
610 results