A. Holubová

发表

Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A > G.

Iris A. L. Silva, Hugo M. Botelho, L. Clarke, 2020, Biochimica et biophysica acta. Molecular basis of disease.

Highly preferential association of NonF508del CF mutations with the M470 allele.

G. Modiano, M. Macek, C. Castellani, 2007, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

P. Pignatti, D. Cooper, R. Williamson, 2006, European Journal of Human Genetics.

Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA

M. Macek, Miroslava Balaščáková, T. Piskáčková, 2012, European Journal of Pediatrics.

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.

M. Macek, M. Turnovec, Miroslava Balaščáková, 2013, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Natural history of KBG syndrome in a large European cohort

N. Brunetti‐Pierri, F. Santorelli, T. Reimand, 2022, Human molecular genetics.

Epidemiology of rare diseases detected by newborn screening in the Czech Republic.

M. Macek, R. Gaillyová, T. Adam, 2019, Central European journal of public health.

Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.

M. Macek, V. Moslerová, M. Havlovicová, 2018, European journal of medical genetics.

Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates

V. Kožich, Eva Al Taji, F. Votava, 2018, European Journal of Pediatrics.

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.

M. Macek, P. Dřevínek, Miroslava Balaščáková, 2009, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring

M. Macek, A. Maver, M. Havlovicová, 2016, Clinical genetics.

Laboratory newborn screening in the Czech Republic: results in 2010-2022 period

P. Chrastina, A. Holubová, K. Pešková, 2024, Česko-slovenská pediatrie.