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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: krebsova a. 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.
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.
Kubánek M, Schimerová T, Piherová L, Brodehl A, Krebsová A, Ratnavadivel S, Stanasiuk C, Hansíková H, Zeman J, Paleček T, Houštěk J, Drahota Z, Nůsková H, Mikešová J, Zámečník J, Macek M Jr, Ridzoň P, Malusková J, Stránecký V, Melenovský V, Milting H, Kmoch S. Kubánek M, et al. Among authors: krebsova a. J Clin Med. 2020 Mar 29;9(4):937. doi: 10.3390/jcm9040937. J Clin Med. 2020. PMID: 32235386 Free PMC article.
Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.
Van Gucht I, Krebsova A, Diness BR, Laga S, Adlam D, Kempers M, Samani NJ, Webb TR, Baranowska AA, Van Den Heuvel L, Perik M, Luyckx I, Peeters N, Votypka P, Macek M, Meester J, Van Laer L, Verstraeten A, Loeys BL. Van Gucht I, et al. Among authors: krebsova a. Int J Mol Sci. 2021 Jul 1;22(13):7111. doi: 10.3390/ijms22137111. Int J Mol Sci. 2021. PMID: 34281165 Free PMC article.
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants.
Rodrigues Bento J, Krebsová A, Van Gucht I, Valdivia Callejon I, Van Berendoncks A, Votypka P, Luyckx I, Peldova P, Laga S, Havelka M, Van Laer L, Trunecka P, Boeckx N, Verstraeten A, Macek M, Meester JAN, Loeys B. Rodrigues Bento J, et al. Among authors: krebsova a. Hum Mutat. 2022 Dec;43(12):1824-1828. doi: 10.1002/humu.24433. Epub 2022 Jul 16. Hum Mutat. 2022. PMID: 35819173 Free PMC article.
Association of human aging with a functional variant of klotho.
Arking DE, Krebsova A, Macek M Sr, Macek M Jr, Arking A, Mian IS, Fried L, Hamosh A, Dey S, McIntosh I, Dietz HC. Arking DE, et al. Among authors: krebsova a. Proc Natl Acad Sci U S A. 2002 Jan 22;99(2):856-61. doi: 10.1073/pnas.022484299. Epub 2002 Jan 15. Proc Natl Acad Sci U S A. 2002. PMID: 11792841 Free PMC article.
39 results