From Mendel to Medical Genetics

por Kristoffersson, Ulf, Macek, Milan
Publicado 2017

Cystic Fibrosis in Europe - remote measurement of outcome

por Mehta, Anil, Mehta, Gita, Macek, Milan
Publicado 2010

Comparative demographics of the European Cystic Fibrosis population: does EU membership confer an advantage?

por Mehta, Anil, McCormick, Jonathan, Macek, Milan
Publicado 2010

Identification of 99% of CFTR gene mutations in Bulgarian‐, Bulgarian Turk‐, and Roma cystic fibrosis patients

por Petrova, Guergana, Yaneva, Nadezhda, Hrbková, Jana, Libik, Malgorzata, Savov, Alexey, Macek, Milan
Publicado 2019

The Key Role of Purine Metabolism in the Folate-Dependent Phenotype of Autism Spectrum Disorders: An In Silico Analysis

por Geryk, Jan, Krsička, Daniel, Vlčková, Markéta, Havlovicová, Markéta, Macek, Milan, Kremlíková Pourová, Radka
Publicado 2020

The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy

por Bonaventura, Jiří, Norambuena, Patricia, Tomašov, Pavol, Jindrová, Denisa, Šedivá, Hana, Macek, Milan, Veselka, Josef
Publicado 2018

Monitoring of Early Changes of Circulating Tumor DNA in the Plasma of Rectal Cancer Patients Receiving Neoadjuvant Concomitant Chemoradiotherapy: Evaluation for Prognosis and Predi...

por Pazdirek, Filip, Minarik, Marek, Benesova, Lucie, Halkova, Tereza, Belsanova, Barbora, Macek, Milan, Stepanek, Lubomír, Hoch, Jiri
Publicado 2020

The Common Follicle-Stimulating Hormone Receptor (FSHR) Promoter Polymorphism FSHR −29G > A Affects Androgen Production in Normal Human Small Antral Follicles

por Borgbo, Tanni, Klučková, Hana, Macek, Milan, Chrudimska, Jana, Kristensen, Stine Gry, Hansen, Lise Lotte, Andersen, Claus Yding
Publicado 2017

Influence of concomitant heparin administration on pregnancy-associated plasma protein-A levels in acute coronary syndrome with ST segment elevation

por Hájek, Petr, Macek, Milan, Lashkevich, Andrej, Klučková, Hana, Hladíková, Marie, Hansvenclová, Eva, Malý, Martin, Veselka, Josef, Krebsová, Alice
Publicado 2011

Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system

por Ivády, Gergely, Madar, László, Dzsudzsák, Erika, Koczok, Katalin, Kappelmayer, János, Krulisova, Veronika, Macek, Milan, Horváth, Attila, Balogh, István
Publicado 2018

FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide

por van Baal, Sjozef, Kaimakis, Polynikis, Phommarinh, Manyphong, Koumbi, Daphne, Cuppens, Harry, Riccardino, Francesca, Macek, Milan, Scriver, Charles R., Patrinos, George P.
Publicado 2007

Enhanced Expression of Human Epididymis Protein 4 (HE4) Reflecting Pro-Inflammatory Status Is Regulated by CFTR in Cystic Fibrosis Bronchial Epithelial Cells

por Bene, Zsolt, Fejes, Zsolt, Szanto, Tibor Gabor, Fenyvesi, Ferenc, Váradi, Judit, Clarke, Luka A., Panyi, Gyorgy, Macek, Milan, Amaral, Margarida D., Balogh, István, Nagy, Béla
Publicado 2021

Distribution of SARS-CoV-2 Lineages in the Czech Republic, Analysis of Data from the First Year of the Pandemic

por Klempt, Petr, Brzoň, Ondřej, Kašný, Martin, Kvapilová, Kateřina, Hubáček, Petr, Briksi, Aleš, Bezdíček, Matěj, Koudeláková, Vladimira, Lengerová, Martina, Hajdúch, Marian, Dřevínek, Pavel, Pospíšilová, Šárka, Kriegová, Eva, Macek, Milan, Kvapil, Petr
Publicado 2021

Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom

por Costa, Alessia, Franková, Věra, Robert, Glenn, Macek, Milan, Patch, Christine, Alexander, Elizabeth, Arellanesova, Anna, Clayton-Smith, Jill, Hunter, Amy, Havlovicová, Markéta, Pourová, Radka, Pritchard, Marie, Roberts, Lauren, Zoubková, Veronika, Metcalfe, Alison
Publicado 2022

Correction to: Co‑designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom

por Costa, Alessia, Franková, Věra, Robert, Glenn, Macek, Milan, Patch, Christine, Alexander, Elizabeth, Arellanesova, Anna, Clayton‑Smith, Jill, Hunter, Amy, Havlovicová, Markéta, Pourová, Radka, Pritchard, Marie, Roberts, Lauren, Zoubková, Veronika, Metcalfe, Alison
Publicado 2022

The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages

por Jackson, Leigh, O’Connor, Anita, Paneque, Milena, Curtisova, Vaclava, Lunt, Peter W., Pourova, Radka Kremlíková, Macek, Milan, Stefansdottir, Vigdis, Turchetti, Daniela, Campos, Mariana, Henneman, Lidewij, Godino, Lea, Skirton, Heather, Cornel, Martina C.
Publicado 2018

Fluvastatin in the therapy of acute coronary syndrome: Rationale and design of a multicenter, randomized, double-blind, placebo-controlled trial (The FACS Trial)[ISRCTN81331696]

por Ostadal, Petr, Alan, David, Hajek, Petr, Vejvoda, Jiri, Mates, Martin, Blasko, Peter, Veselka, Josef, Kvapil, Milan, Kettner, Jiri, Wiendl, Martin, Aschermann, Ondrej, Slaby, Josef, Nemecek, Eduard, Holm, Frantisek, Rac, Marek, Macek, Milan, Cepova, Jana
Publicado 2005

Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstra...

por Yiallouros, Panayiotis K., Matthaiou, Andreas Μ., Anagnostopoulou, Pinelopi, Kouis, Panayiotis, Libik, Malgorzata, Adamidi, Tonia, Eleftheriou, Adonis, Demetriou, Artemios, Ioannou, Phivos, Tanteles, George A., Costi, Constantina, Fanis, Pavlos, Macek, Milan, Neocleous, Vassos, Phylactou, Leonidas A.
Publicado 2021

Fluvastatin in the first-line therapy of acute coronary syndrome: results of the multicenter, randomized, double-blind, placebo-controlled trial (the FACS-trial)

por Ostadal, Petr, Alan, David, Vejvoda, Jiri, Kukacka, Jiri, Macek, Milan, Hajek, Petr, Mates, Martin, Kvapil, Milan, Kettner, Jiri, Wiendl, Martin, Aschermann, Ondrej, Slaby, Josef, Holm, Frantisek, Telekes, Peter, Horak, David, Blasko, Peter, Zemanek, David, Veselka, Josef, Cepova, Jana
Publicado 2010

Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia

por Stanke, Frauke, Becker, Tim, Kumar, Vinod, Hedtfeld, Silke, Becker, Christian, Cuppens, Harry, Tamm, Stephanie, Yarden, Jennifer, Laabs, Ulrike, Siebert, Benny, Fernandez, Luis, Macek, Milan, Radojkovic, Dragica, Ballmann, Manfred, Greipel, Joachim, Cassiman, Jean-Jacques, Wienker, Thomas F, Tümmler, Burkhard
Publicado 2010