P. Křenková

Human MutationMETHODS Diagnostic Guidelines for High-Resolution Melting Curve ( HRM ) Analysis : An Interlaboratory Validation of BRCA 1 Mutation Scanning Using the 96-Well LightScannerTM

E. Bakker, G. Matthijs, M. Macek, 2009 .

Diagnostic guidelines for high‐resolution melting curve (HRM) analysis: An interlaboratory validation of BRCA1 mutation scanning using the 96‐well LightScanner™

E. Bakker, G. Matthijs, M. Macek, 2009, Human mutation.

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.

An ADP-ribosyltransferase 3 (ART3) variant is associated with reduced sperm counts in Czech males: case/control association study replicating results from the Japanese population.

M. Macek, P. Paulasova, P. Křenková, 2012, Neuro endocrinology letters.

Diagnostic method validation: High resolution melting (HRM) of small amplicons genotyping for the most common variants in the MTHFR gene.

Milan Macek, M. Macek, Patricia A Norambuena, 2009, Clinical biochemistry.

A common haplotype of protamine 1 and 2 genes is associated with higher sperm counts.

E. Nieschlag, M. Simoni, J. Gromoll, 2010, International journal of andrology.

Evaluation of high-resolution melting (HRM) for mutation scanning of selected exons of the CFTR gene.

M. Macek, P. Křenková, A. Štambergová, 2009, Folia biologica.

A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: genotype-phenotype correlations, relevance for newborn screening and genetic testing.

M. Macek, M. Hancarova, H. Makukh, 2010, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.