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Correlation between genetic and geographic structure in Europe.
Lao O, Lu TT, Nothnagel M, Junge O, Freitag-Wolf S, Caliebe A, Balascakova M, Bertranpetit J, Bindoff LA, Comas D, Holmlund G, Kouvatsi A, Macek M, Mollet I, Parson W, Palo J, Ploski R, Sajantila A, Tagliabracci A, Gether U, Werge T, Rivadeneira F, Hofman A, Uitterlinden AG, Gieger C, Wichmann HE, Rüther A, Schreiber S, Becker C, Nürnberg P, Nelson MR, Krawczak M, Kayser M. Lao O, et al. Among authors: Balascakova M. Curr Biol. 2008 Aug 26;18(16):1241-8. doi: 10.1016/j.cub.2008.07.049. Epub 2008 Aug 7. Curr Biol. 2008. PMID: 18691889
An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population.
Lu TT, Lao O, Nothnagel M, Junge O, Freitag-Wolf S, Caliebe A, Balascakova M, Bertranpetit J, Bindoff LA, Comas D, Holmlund G, Kouvatsi A, Macek M, Mollet I, Nielsen F, Parson W, Palo J, Ploski R, Sajantila A, Tagliabracci A, Gether U, Werge T, Rivadeneira F, Hofman A, Uitterlinden AG, Gieger C, Wichmann HE, Ruether A, Schreiber S, Becker C, Nürnberg P, Nelson MR, Kayser M, Krawczak M. Lu TT, et al. Among authors: Balascakova M. Eur J Hum Genet. 2009 Jul;17(7):967-75. doi: 10.1038/ejhg.2008.266. Epub 2009 Jan 21. Eur J Hum Genet. 2009. PMID: 19156175 Free PMC article.
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
Azad AK, Rauh R, Vermeulen F, Jaspers M, Korbmacher J, Boissier B, Bassinet L, Fichou Y, des Georges M, Stanke F, De Boeck K, Dupont L, Balascáková M, Hjelte L, Lebecque P, Radojkovic D, Castellani C, Schwartz M, Stuhrmann M, Schwarz M, Skalicka V, de Monestrol I, Girodon E, Férec C, Claustres M, Tümmler B, Cassiman JJ, Korbmacher C, Cuppens H. Azad AK, et al. Among authors: Balascakova M. Hum Mutat. 2009 Jul;30(7):1093-103. doi: 10.1002/humu.21011. Hum Mutat. 2009. PMID: 19462466
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: Balascakova M. 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.
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: Balascakova M. 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.
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. 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.
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: Balascakova M. 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. Clinical Trial.
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: Balascakova M. 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.
Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia.
Zieg J, Krepelova A, Baradaran-Heravi A, Levtchenko E, Guillén-Navarro E, Balascakova M, Sukova M, Seeman T, Dusek J, Simankova N, Rosik T, Skalova S, Lebl J, Boerkoel CF. Zieg J, et al. Among authors: Balascakova M. Pediatr Rheumatol Online J. 2011 Sep 13;9(1):27. doi: 10.1186/1546-0096-9-27. Pediatr Rheumatol Online J. 2011. PMID: 21914180 Free PMC article.
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