Opportunistic genomic screening. Recommendations of the European Society of Human Genetics von de Wert, Guido, Dondorp, Wybo, Clarke, Angus, Dequeker, Elisabeth M. C., Cordier, Christophe, Deans, Zandra, van El, Carla G., Fellmann, Florence, Hastings, Ros, Hentze, Sabine, Howard, Heidi, Macek, Milan, Mendes, Alvaro, Patch, Chris, Rial-Sebbag, Emmanuelle, Stefansdottir, Vigdis, Cornel, Martina C., Forzano, Francesca

Volltext

The impact of type 1 diabetes mellitus on male sexual functions and sex hormone levels von Hylmarova, Simona, Stechova, Katerina, Pavlinkova, Gabriela, Peknicova, Jana, Macek, Milan, Kvapil, Milan

Volltext

Body mass index is an overlooked confounding factor in existing clustering studies of 3D facial scans of children with autism spectrum disorder von Schwarz, Martin, Geryk, Jan, Havlovicová, Markéta, Mihulová, Michaela, Turnovec, Marek, Ryba, Lukáš, Martinková, Júlia, Macek, Milan, Palmer, Richard, Kočandrlová, Karolína, Velemínská, Jana, Moslerová, Veronika

Volltext

The future of cystic fibrosis care: a global perspective von Bell, Scott C, Mall, Marcus A, Gutierrez, Hector, Macek, Milan, Madge, Susan, Davies, Jane C, Burgel, Pierre-Régis, Tullis, Elizabeth, Castaños, Claudio, Castellani, Carlo, Byrnes, Catherine A, Cathcart, Fiona, Chotirmall, Sanjay H, Cosgriff, Rebecca, Eichler, Irmgard, Fajac, Isabelle, Goss, Christopher H, Drevinek, Pavel, Farrell, Philip M, Gravelle, Anna M, Havermans, Trudy, Mayer-Hamblett, Nicole, Kashirskaya, Nataliya, Kerem, Eitan, Mathew, Joseph L, McKone, Edward F, Naehrlich, Lutz, Nasr, Samya Z, Oates, Gabriela R, O'Neill, Ciaran, Pypops, Ulrike, Raraigh, Karen S, Rowe, Steven M, Southern, Kevin W, Sivam, Sheila, Stephenson, Anne L, Zampoli, Marco, Ratjen, Felix

Volltext

Survival estimates in European cystic fibrosis patients and the impact of socioeconomic factors: a retrospective registry cohort study von McKone, Edward F., Ariti, Cono, Jackson, Abaigeal, Zolin, Anna, Carr, Siobhan B., Orenti, Annalisa, van Rens, Jacqui G., Lemonnier, Lydie, Macek, Milan, Keogh, Ruth H., Naehrlich, Lutz

Volltext

Association of Human Aging with a Functional Variant of Klotho von 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.

Volltext

Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn’s disease von Schwarz, Martin, Gazdarica, Matej, Froňková, Eva, Svatoň, Michael, Bronský, Jiří, Havlovicová, Markéta, Křepelová, Anna, Macek jr, Milan

Volltext

The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy von Bonaventura, Jiří, Norambuena, Patricia, Tomašov, Pavol, Jindrová, Denisa, Šedivá, Hana, Macek, Jr, Milan, Veselka, Josef

Volltext

Comparative demographics of the European cystic fibrosis population: a cross-sectional database analysis von McCormick, Jonathan, Dr, Mehta, Gita, MPhil, Olesen, Hanne V, MD, Viviani, Laura, MSc, Macek, Milan, Prof, Mehta, Anil, FRCP

Volltext

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 th... von Pócsi, Marianna, Fejes, Zsolt, Bene, Zsolt, Nagy, Attila, Balogh, István, Amaral, Margarida D., Macek, Milan, Nagy, Béla

Volltext

Cystic fibrosis: A worldwide analysis of CFTR mutations-correlation with incidence data and application to screening von Bobadilla, Joseph L., Macek Jr, Milan, Fine, Jason P., Farrell, Philip M.

Volltext

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign von 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.

Volltext

Reconstructing the Population History of European Romani from Genome-wide Data von 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

Volltext

Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis von 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

Volltext

Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system von Ivády, Gergely, Madar, László, Dzsudzsák, Erika, Koczok, Katalin, Kappelmayer, János, Krulisova, Veronika, Macek, Jr, Milan, Horváth, Attila, Balogh, István

Volltext

Human Epididymis Protein 4: A Novel Serum Inflammatory Biomarker in Cystic Fibrosis von Nagy, Béla, MD, PhD, Fila, Libor, MD, Clarke, Luka A., PhD, Gönczy, Ferenc, MD, Bede, Olga, MD, PhD, Nagy, Dóra, MD, Újhelyi, Rita, MD, PhD, Szabó, Ágnes, MD, Anghelyi, Andrea, MD, Major, Miklós, MD, Bene, Zsolt, MD, Fejes, Zsolt, MSc, Antal-Szalmás, Péter, MD, PhD, Bhattoa, Harjit Pal, MD, PhD, Balla, György, MD, PhD, Kappelmayer, János, MD, PhD, Amaral, Margarida D., PhD, Macek, Milan, MD, PhD, Balogh, István, PhD

Volltext

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases von Boycott, Kym M., Rath, Ana, Chong, Jessica X., Hartley, Taila, Alkuraya, Fowzan S., Baynam, Gareth, Brookes, Anthony J., Brudno, Michael, Carracedo, Angel, den Dunnen, Johan T., Dyke, Stephanie O.M., Estivill, Xavier, Goldblatt, Jack, Gonthier, Catherine, Groft, Stephen C., Gut, Ivo, Hamosh, Ada, Hieter, Philip, Höhn, Sophie, Hurles, Matthew E., Kaufmann, Petra, Knoppers, Bartha M., Krischer, Jeffrey P., Macek, Milan, Matthijs, Gert, Olry, Annie, Parker, Samantha, Paschall, Justin, Philippakis, Anthony A., Rehm, Heidi L., Robinson, Peter N., Sham, Pak-Chung, Stefanov, Rumen, Taruscio, Domenica, Unni, Divya, Vanstone, Megan R., Zhang, Feng, Brunner, Han, Bamshad, Michael J., Lochmüller, Hanns

Volltext

Amelogenesis imperfecta : Next-generation sequencing sheds light on Witkop's classification von 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

Volltext

Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy von Bonaventura, Jiri, Rowin, Ethan J, Chan, Raymond H, Chin, Michael T, Puchnerova, Veronika, Polakova, Eva, Macek, Jr, Milan, Votypka, Pavel, Batorsky, Rebecca, Perera, Gayani, Koethe, Benjamin, Veselka, Josef, Maron, Barry J, Maron, Martin S

Volltext

Monitoring of Early Changes of Circulating Tumor DNA in the Plasma of Rectal Cancer Patients Receiving Neoadjuvant Concomitant Chemoradiotherapy: Evaluation for Prognosis and Predi... von Pazdirek, Filip, Minarik, Marek, Benesova, Lucie, Halkova, Tereza, Belsanova, Barbora, Macek, Milan, Stepanek, Lubomir, Hoch, Jiri

Volltext