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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: libik 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.
Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry.
Yiallouros PK, Matthaiou AΜ, Anagnostopoulou P, Kouis P, Libik M, Adamidi T, Eleftheriou A, Demetriou A, Ioannou P, Tanteles GA, Costi C, Fanis P, Macek M, Neocleous V, Phylactou LA. Yiallouros PK, et al. Among authors: libik m. Orphanet J Rare Dis. 2021 Oct 2;16(1):409. doi: 10.1186/s13023-021-02049-z. Orphanet J Rare Dis. 2021. PMID: 34600583 Free PMC article.
The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood.
Thomasová D, Zelinová M, Libik M, Geryk J, Votýpka P, Rajnochová Bloudíčková S, Krejčí K, Reiterová J, Jančová E, Machová J, Kollárová M, Rychík I, Havrda M, Horáčková M, Putzová M, Šafránek R, Kollár M, Macek M Jr. Thomasová D, et al. Among authors: libik m. Front Med (Lausanne). 2023 Dec 19;10:1320054. doi: 10.3389/fmed.2023.1320054. eCollection 2023. Front Med (Lausanne). 2023. PMID: 38170106 Free PMC article.
Hyperkalaemic acidosis: blood pressure is the diagnostic clue.
Zieg J, Thomasová D, Libik M, Sumnik Z, Bockenhauer D. Zieg J, et al. Among authors: libik m. Pediatr Nephrol. 2024 Nov 11. doi: 10.1007/s00467-024-06590-4. Online ahead of print. Pediatr Nephrol. 2024. PMID: 39527282
17 results