The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy
Bonaventura, Jiří, Norambuena, Patricia, Tomašov, Pavol, Jindrová, Denisa, Šedivá, Hana, Macek, Jr, Milan, Veselka, Josef
Published in Archives of medical science (01.05.2019)
Published in Archives of medical science (01.05.2019)
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Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign
Groman, Joshua D., Hefferon, Timothy W., Casals, Teresa, Bassas, Lluís, Estivill, Xavier, Des Georges, Marie, Guittard, Caroline, Koudova, Monika, Fallin, M. Daniele, Nemeth, Krisztina, Fekete, Gyorgy, Kadasi, Ludovit, Friedman, Ken, Schwarz, Martin, Bombieri, Cristina, Pignatti, Pier Franco, Kanavakis, Emmanuel, Tzetis, Maria, Schwartz, Marianne, Novelli, Giuseppe, D’Apice, Maria Rosaria, Sobczynska-Tomaszewska, Agnieszka, Bal, Jerzy, Stuhrmann, Manfred, Macek, Milan, Claustres, Mireille, Cutting, Garry R.
Published in American journal of human genetics (01.01.2004)
Published in American journal of human genetics (01.01.2004)
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Precision medicine in cystic fibrosis: predictive role of forskolin-induced swelling assay
Furstova, Eva, Drevinek, Pavel, Novotna, Stepanka, Libik, Malgorzata, Benesova, Klara, Borek-Dohalska, Lucie, Sakmarova, Kristina, Modrak, Martin, Macek, Jr, Milan, Dousova, Tereza
Published in The European respiratory journal (01.04.2024)
Published in The European respiratory journal (01.04.2024)
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Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens
Steiner, Bernhard, Rosendahl, Jonas, Witt, Heiko, Teich, Niels, Keim, Volker, Schulz, Hans-Ulrich, Pfützer, Roland, Lühr, Matthias, Gress, Thomas M., Nickel, Renate, Landt, Olfert, Koudova, Monika, Macek Jr, Milan, Farre, Antoni, Casals, Teresa, Desax, Marie-Claire, Gallati, Sabina, Gomez-Lira, Macarena, Audrezet, Marie Pierre, Férec, Claude, des Georges, Marie, Claustres, Mireille, Truninger, Kaspar
Published in Human mutation (01.08.2011)
Published in Human mutation (01.08.2011)
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Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn’s disease
Schwarz, Martin, Gazdarica, Matej, Froňková, Eva, Svatoň, Michael, Bronský, Jiří, Havlovicová, Markéta, Křepelová, Anna, Macek jr, Milan
Published in Molecular biology reports (01.12.2024)
Published in Molecular biology reports (01.12.2024)
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Human epididymis protein 4 (HE4) plasma concentration inversely correlates with the improvement of cystic fibrosis lung disease in p.Phe508del-CFTR homozygous cases treated with the CFTR modulator lumacaftor/ivacaftor combination
Pócsi, Marianna, Fejes, Zsolt, Bene, Zsolt, Nagy, Attila, Balogh, István, Amaral, Margarida D, Macek, Jr, Milan, Nagy, Jr, Béla
Published in Journal of cystic fibrosis (01.11.2023)
Published in Journal of cystic fibrosis (01.11.2023)
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Body mass index is an overlooked confounding factor in existing clustering studies of 3D facial scans of children with autism spectrum disorder
Schwarz, Martin, Geryk, Jan, Havlovicová, Markéta, Mihulová, Michaela, Turnovec, Marek, Ryba, Lukáš, Martinková, Júlia, Macek, Milan, Palmer, Richard, Kočandrlová, Karolína, Velemínská, Jana, Moslerová, Veronika
Published in Scientific reports (30.04.2024)
Published in Scientific reports (30.04.2024)
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Reconstructing the Population History of European Romani from Genome-wide Data
Mendizabal, Isabel, Lao, Oscar, Marigorta, Urko M., Wollstein, Andreas, Gusmão, Leonor, Ferak, Vladimir, Ioana, Mihai, Jordanova, Albena, Kaneva, Radka, Kouvatsi, Anastasia, Kučinskas, Vaidutis, Makukh, Halyna, Metspalu, Andres, Netea, Mihai G., de Pablo, Rosario, Pamjav, Horolma, Radojkovic, Dragica, Rolleston, Sarah J.H., Sertic, Jadranka, Macek, Milan, Comas, David, Kayser, Manfred
Published in Current biology (18.12.2012)
Published in Current biology (18.12.2012)
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Amelogenesis imperfecta : Next-generation sequencing sheds light on Witkop's classification
Bloch-Zupan, Agnes, Rey, Tristan, Jimenez-Armijo, Alexandra, Kawczynski, Marzena, Kharouf, Naji, Dure-Molla, Muriel de La, Noirrit, Emmanuelle, Hernandez, Magali, Joseph-Beaudin, Clara, Lopez, Serena, Tardieu, Corinne, Thivichon-Prince, Béatrice, Dostalova, Tatjana, Macek, Jr, Milan, Alloussi, Mustapha El, Qebibo, Leila, Morkmued, Supawich, Pungchanchaikul, Patimaporn, Orellana, Blanca Urzúa, Manière, Marie-Cécile, Gérard, Bénédicte, Bugueno, Isaac Maximiliano, Laugel-Haushalter, Virginie
Published in Frontiers in physiology (2023)
Published in Frontiers in physiology (2023)
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Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis
Nickel, Renate, Sahin-Tóth, Miklós, Ózsvári, Béla, Gress, Thomas M, Truninger, Kaspar, Macek, Milan, Landt, Olfert, Büning, Carsten, Berg, Thomas, Witt, Heiko, Kovacs, Peter, Puhl, Gero, Pfützer, Roland, Groneberg, David Alexander, Kage, Andreas, Hegyi, Péter, Wiedenmann, Bertram, Bhatia, Eesh, Blüher, Matthias, Schmidt, Hartmut, te Morsche, René HM, Bödeker, Hans, Stumvoll, Michael, Teich, Niels, Schulz, Hans-Ulrich, Szmola, Richárd, Ockenga, Johann, Mössner, Joachim, Keim, Volker, Rosendahl, Jonas, Löhr, Matthias, Choudhuri, Gourdas, Drenth, Joost PH, Witt, Ulrike
Published in Nature genetics (01.01.2008)
Published in Nature genetics (01.01.2008)
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A degradation-sensitive anionic trypsinogen ( PRSS2 ) variant protects against chronic pancreatitis
Real, Francisco X, Koudova, Monika, Le Maréchal, Cédric, Ammann, Rudolf W, Weiss, Frank Ulrich, Pfützer, Roland, Löhr, Matthias, Berg, Thomas, Halangk, Juliane, Böck, Wolfgang, Galavotti, Roberta, Chen, Jian-Min, Cavestro, Giulia Martina, Truninger, Kaspar, Keil, Thomas, Güldner, Claudia, Wiedenmann, Bertram, Bargetzi, Mario, Gress, Thomas M, Cerny, Milos, Friess, Helmut, Menzel, Hans-Jürgen, Dahm, Stefan, Rohde, Klaus, Kukor, Zoltán, Moral, Pedro, Spicak, Julius, Bernardova, Jana, Witt, Heiko, Sahin-Tóth, Miklós, Becker, Michael, Akar, Nejat, Destro-Bisol, Giovanni, Ockenga, Johann, Kähne, Thilo, Férec, Claude, Teich, Niels, Schulz, Hans-Ulrich, Macek, Milan, Keim, Volker, Witt, Ulrike, Luck, Werner, Bhatia, Eesh, Kage, Andreas, Rickards, Olga, Halangk, Walter, Landt, Olfert, Eiberg, Hans, Nickel, Renate, Jansen, Jan B M J, Treiber, Matthias, Pignatti, Pier Franco, Rosendahl, Jonas, Rausova, Eva, Simon, Peter, Drenth, Joost PH, Castellani, Carlo, Schmidt, Hartmut, Groneberg, David Alexander, Spedini, Gabriella, Malats, Núria, Zarnescu, Narcis Octavian, Lerch, Markus M, Braun, Markus, Szepessy, Edit
Published in Nature genetics (01.06.2006)
Published in Nature genetics (01.06.2006)
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Patients with hypertrophic obstructive cardiomyopathy after alcohol septal ablation have favorable long-term outcome irrespective of their genetic background
Bonaventura, Jiří, Norambuena, Patricia, Votýpka, Pavel, Hnátová, Hana, Adlová, Radka, Macek, Jr, Milan, Veselka, Josef
Published in Cardiovascular diagnosis and therapy (01.04.2020)
Published in Cardiovascular diagnosis and therapy (01.04.2020)
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Association of Human Aging with a Functional Variant of Klotho
Arking, Dan E., Krebsova, Alice, Macek, Milan, Macek, Milan, Arking, Albert, Mian, I. Saira, Fried, Linda, Hamosh, Ada, Dey, Srabani, McIntosh, Iain, Dietz, Harry C.
Published in Proceedings of the National Academy of Sciences - PNAS (22.01.2002)
Published in Proceedings of the National Academy of Sciences - PNAS (22.01.2002)
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Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy
Vozikis, Athanassios, Cooper, David N, Mitropoulou, Christina, Kambouris, Manousos E, Brand, Angela, Dolzan, Vita, Fortina, Paolo, Innocenti, Federico, Lee, Ming Ta Michael, Leyens, Lada, Macek, Jr, Milan, Al-Mulla, Fahd, Prainsack, Barbara, Squassina, Alessio, Taruscio, Domenica, van Schaik, Ron H, Vayena, Effy, Williams, Marc S, Patrinos, George P
Published in Public health genomics (2016)
Published in Public health genomics (2016)
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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, Dana, Zelinová, Michaela, Libik, Malgorzata, Geryk, Jan, Votýpka, Pavel, Rajnochová Bloudíčková, Silvie, Krejčí, Karel, Reiterová, Jana, Jančová, Eva, Machová, Jana, Kollárová, Martina, Rychík, Ivan, Havrda, Martin, Horáčková, Miroslava, Putzová, Martina, Šafránek, Roman, Kollár, Marek, Macek, Jr, Milan
Published in Frontiers in medicine (19.12.2023)
Published in Frontiers in medicine (19.12.2023)
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Benchmarks for Cystic Fibrosis carrier screening: A European consensus document
Castellani, Carlo, Macek, Milan, Cassiman, Jean-Jacques, Duff, Alistair, Massie, John, ten Kate, Leo P, Barton, David, Cutting, Garry, Dallapiccola, Bruno, Dequeker, Elisabeth, Girodon, Emmanuelle, Grody, Wayne, Highsmith, Edward W, Kääriäinen, Helenal, Kruip, Stephan, Morris, Michael, Pignatti, Pier Franco, Pypops, Ulrike, Schwarz, Martin, Soller, Maria, Stuhrman, Manfred, Cuppens, Harry
Published in Journal of cystic fibrosis (01.05.2010)
Published in Journal of cystic fibrosis (01.05.2010)
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Conference Proceeding
Diagnostic method validation: High resolution melting (HRM) of small amplicons genotyping for the most common variants in the MTHFR gene
Norambuena, Patricia A., Copeland, Joshua A., Křenková, Petra, Štambergová, Alexandra, Macek Jr, Milan
Published in Clinical biochemistry (01.08.2009)
Published in Clinical biochemistry (01.08.2009)
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Identification of 99% of CFTR gene mutations in Bulgarian‐, Bulgarian Turk‐, and Roma cystic fibrosis patients
Petrova, Guergana, Yaneva, Nadezhda, Hrbková, Jana, Libik, Malgorzata, Savov, Alexey, Macek, Milan
Published in Molecular genetics & genomic medicine (01.08.2019)
Published in Molecular genetics & genomic medicine (01.08.2019)
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FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide
van Baal, Sjozef, Kaimakis, Polynikis, Phommarinh, Manyphong, Koumbi, Daphne, Cuppens, Harry, Riccardino, Francesca, Macek, Milan, Scriver, Charles R., Patrinos, George P.
Published in Nucleic acids research (01.01.2007)
Published in Nucleic acids research (01.01.2007)
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