Congenital long QT syndrome

ανά Crotti, Lia, Celano, Giuseppe, Dagradi, Federica, Schwartz, Peter J
Έκδοση 2008

Spectrum and Prevalence of Mutations Involving BrS1-12-Susceptibility Genes in a Cohort of Unrelated Patients Referred for Brugada Syndrome Genetic Testing: Implications for Geneti...

ανά Crotti, Lia, Kellen, Cherisse A., Tester, David J., Castelletti, Silvia, Giudicessi, John R., Torchio, Margherita, Medeiros-Domingo, Argelia, Simone, Savastano, Will, Melissa L, Dagradi, Federica, Schwartz, Peter J., Ackerman, Michael J.
Έκδοση 2012

FGF12 is a candidate Brugada syndrome locus

ανά Hennessey, Jessica A., Marcou, Cherisse A., Wang, Chuan, Wei, Eric Q., Wang, Chaojian, Tester, David J., Torchio, Margherita, Dagradi, Federica, Crotti, Lia, Schwartz, Peter J., Ackerman, Michael J., Pitt, Geoffrey S.
Έκδοση 2013

Torsades de pointes following acute myocardial infarction: Evidence for a deadly link with a common genetic variant

ανά Crotti, Lia, Hu, Dan, Barajas-Martinez, Hector, De Ferrari, Gaetano M., Oliva, Antonio, Insolia, Roberto, Pollevick, Guido D., Dagradi, Federica, Guerchicoff, Alejandra, Greco, Federica, Schwartz, Peter J., Viskin, Sami, Antzelevitch, Charles
Έκδοση 2012

Vagal Reflexes Following an Exercise Stress Test: a Simple Clinical Tool for Gene-Specific Risk Stratification in the Long QT Syndrome

ανά Crotti, Lia, Spazzolini, Carla, Porretta, Alessandra P., Dagradi, Federica, Taravelli, Erika, Petracci, Barbara, Vicentini, Alessandro, Pedrazzini, Matteo, Rovere, Maria Teresa La, Vanoli, Emilio, Goosen, Althea, Heradien, Marshall, Brink, Paul A., George, Alfred L., Schwartz, Peter J.
Έκδοση 2012

Characterization of SEMA3A-Encoded Semaphorin as a Naturally Occurring K(v)4.3 Protein Inhibitor and its Contribution to Brugada Syndrome

ανά Boczek, Nicole J., Ye, Dan, Johnson, Eric K., Wang, Wei, Crotti, Lia, Tester, David J., Dagradi, Federica, Mizusawa, Yuka, Torchio, Margherita, Alders, Marielle, Giudicessi, John R., Wilde, Arthur A., Schwartz, Peter J., Nerbonne, Jeanne M., Ackerman, Michael J.
Τόπος έκδοσης Circ Res (2014)

The genetics underlying acquired long QT syndrome: impact for genetic screening

ανά Itoh, Hideki, Crotti, Lia, Aiba, Takeshi, Spazzolini, Carla, Denjoy, Isabelle, Fressart, Véronique, Hayashi, Kenshi, Nakajima, Tadashi, Ohno, Seiko, Makiyama, Takeru, Wu, Jie, Hasegawa, Kanae, Mastantuono, Elisa, Dagradi, Federica, Pedrazzini, Matteo, Yamagishi, Masakazu, Berthet, Myriam, Murakami, Yoshitaka, Shimizu, Wataru, Guicheney, Pascale, Schwartz, Peter J., Horie, Minoru
Τόπος έκδοσης Eur Heart J (2016)

Identification of a KCNQ1 Polymorphism Acting as a Protective Modifier against Arrhythmic Risk in Long QT Syndrome

ανά Duchatelet, Sabine, Crotti, Lia, Peat, Rachel A., Denjoy, Isabelle, Itoh, Hideki, Berthet, Myriam, Ohno, Seiko, Fressart, Véronique, Monti, Maria Cristina, Crocamo, Cristina, Pedrazzini, Matteo, Dagradi, Federica, Vicentini, Alessandro, Klug, Didier, Brink, Paul A., Goosen, Althea, Swan, Heikki, Toivonen, Lauri, Lahtinen, Annukka M., Kontula, Kimmo, Shimizu, Wataru, Horie, Minoru, George, Alfred L., Trégouët, David-Alexandre, Guicheney, Pascale, Schwartz, Peter J.
Έκδοση 2013

Abnormal myocardial expression of SAP97 is associated with arrhythmogenic risk

ανά Musa, Hassan, Marcou, Cherisse A., Herron, Todd J., Makara, Michael A., Tester, David J., O’Connell, Ryan P., Rosinski, Brad, Guerrero-Serna, Guadalupe, Milstein, Michelle L, Monteiro da Rocha, André, Ye, Dan, Crotti, Lia, Nesterenko, Vladislav V., Castelletti, Silvia, Torchio, Margherita, Kotta, Maria-Christina, Dagradi, Federica, Antzelevitch, Charles, Mohler, Peter J., Schwartz, Peter J., Ackerman, Michael J., Anumonwo, Justus M.
Τόπος έκδοσης Am J Physiol Heart Circ Physiol (2020)

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study

ανά Behr, Elijah R., Savio-Galimberti, Eleonora, Barc, Julien, Holst, Anders G., Petropoulou, Evmorfia, Prins, Bram P., Jabbari, Javad, Torchio, Margherita, Berthet, Myriam, Mizusawa, Yuka, Yang, Tao, Nannenberg, Eline A., Dagradi, Federica, Weeke, Peter, Bastiaenan, Rachel, Ackerman, Michael J., Haunso, Stig, Leenhardt, Antoine, Kääb, Stefan, Probst, Vincent, Redon, Richard, Sharma, Sanjay, Wilde, Arthur, Tfelt-Hansen, Jacob, Schwartz, Peter, Roden, Dan M., Bezzina, Connie R., Olesen, Morten, Darbar, Dawood, Guicheney, Pascale, Crotti, Lia, Jamshidi, Yalda
Τόπος έκδοσης Cardiovasc Res (2015)

GENOTYPE PREDICTS OUTCOMES IN FETUSES AND NEONATES WITH SEVERE CONGENITAL LONG QT SYNDROME

ανά Moore, Jeremy P., Gallotti, Roberto G., Shannon, Kevin M., Bos, J. Martijn, Sadeghi, Elham, Strasburger, Janette F., Wakai, Ronald T., Horigome, Hitoshi, Clur, Sally-Ann, Hill, Allison C., Shah, Maully J., Behere, Shashank, Sarquella-Brugada, Georgia, Czosek, Richard, Etheridge, Susan P., Fischbach, Peter, Kannankeril, Prince, Motonaga, Kara, Landstrom, Andrew P., Williams, Matthew, Patel, Akash, Dagradi, Federica, Tan, Reina B., Stephenson, Elizabeth, Krishna, Mani Ram, Miyake, Christina Y., Lee, Michelle E., Sanatani, Shubhayan, Balaji, Seshadri, Young, Ming-Lon, Sidiqui, Saad, Schwartz, Peter J., Shivkumar, Kalyanam, Ackerman, Michael J.
Τόπος έκδοσης JACC Clin Electrophysiol (2020)

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry

ανά Crotti, Lia, Spazzolini, Carla, Tester, David J, Ghidoni, Alice, Baruteau, Alban-Elouen, Beckmann, Britt-Maria, Behr, Elijah R, Bennett, Jeffrey S, Bezzina, Connie R, Bhuiyan, Zahurul A, Celiker, Alpay, Cerrone, Marina, Dagradi, Federica, De Ferrari, Gaetano M, Etheridge, Susan P, Fatah, Meena, Garcia-Pavia, Pablo, Al-Ghamdi, Saleh, Hamilton, Robert M, Al-Hassnan, Zuhair N, Horie, Minoru, Jimenez-Jaimez, Juan, Kanter, Ronald J, Kaski, Juan P, Kotta, Maria-Christina, Lahrouchi, Najim, Makita, Naomasa, Norrish, Gabrielle, Odland, Hans H, Ohno, Seiko, Papagiannis, John, Parati, Gianfranco, Sekarski, Nicole, Tveten, Kristian, Vatta, Matteo, Webster, Gregory, Wilde, Arthur A M, Wojciak, Julianne, George, Alfred L, Ackerman, Michael J, Schwartz, Peter J
Τόπος έκδοσης Eur Heart J (2019)

SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families

ανά Wijeyeratne, Yanushi D., Tanck, Michael W., Mizusawa, Yuka, Batchvarov, Velislav, Barc, Julien, Crotti, Lia, Bos, J. Martijn, Tester, David J., Muir, Alison, Veltmann, Christian, Ohno, Seiko, Page, Stephen P., Galvin, Joseph, Tadros, Rafik, Muggenthaler, Martina, Raju, Hariharan, Denjoy, Isabelle, Schott, Jean-Jacques, Gourraud, Jean-Baptiste, Skoric-Milosavljevic, Doris, Nannenberg, Eline A., Redon, Richard, Papadakis, Michael, Kyndt, Florence, Dagradi, Federica, Castelletti, Silvia, Torchio, Margherita, Meitinger, Thomas, Lichtner, Peter, Ishikawa, Taisuke, Wilde, Arthur A.M., Takahashi, Kazuhiro, Sharma, Sanjay, Roden, Dan M., Borggrefe, Martin M., McKeown, Pascal P., Shimizu, Wataru, Horie, Minoru, Makita, Naomasa, Aiba, Takeshi, Ackerman, Michael J., Schwartz, Peter J., Probst, Vincent, Bezzina, Connie R., Behr, Elijah R.
Τόπος έκδοσης Circ Genom Precis Med (2020)

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

ανά Bezzina, Connie R., Barc, Julien, Mizusawa, Yuka, Remme, Carol Ann, Gourraud, Jean-Baptiste, Simonet, Floriane, Verkerk, Arie O., Schwartz, Peter J., Crotti, Lia, Dagradi, Federica, Guicheney, Pascale, Fressart, Véronique, Leenhardt, Antoine, Antzelevitch, Charles, Bartkowiak, Susan, Schulze-Bahr, Eric, Zumhagen, Sven, Behr, Elijah R., Bastiaenen, Rachel, Tfelt-Hansen, Jacob, Olesen, Morten Salling, Kääb, Stefan, Beckmann, Britt M., Weeke, Peter, Watanabe, Hiroshi, Endo, Naoto, Minamino, Tohru, Horie, Minoru, Ohno, Seiko, Hasegawa, Kanae, Makita, Naomasa, Nogami, Akihiko, Shimizu, Wataru, Aiba, Takeshi, Froguel, Philippe, Balkau, Beverley, Lantieri, Olivier, Torchio, Margherita, Wiese, Cornelia, Weber, David, Wolswinkel, Rianne, Coronel, Ruben, Boukens, Bas J., Bézieau, Stéphane, Charpentier, Eric, Chatel, Stéphanie, Despres, Aurore, Gros, Françoise, Kyndt, Florence, Lecointe, Simon, Lindenbaum, Pierre, Portero, Vincent, Violleau, Jade, Gessler, Manfred, Tan, Hanno L., Roden, Dan M., Christoffels, Vincent M., Le Marec, Hervé, Wilde, Arthur A, Probst, Vincent, Schott, Jean-Jacques, Dina, Christian, Redon, Richard
Έκδοση 2013

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

ανά Lahrouchi, Najim, Tadros, Rafik, Crotti, Lia, Mizusawa, Yuka, Postema, Pieter G., Beekman, Leander, Walsh, Roddy, Hasegawa, Kanae, Barc, Julien, Ernsting, Marko, Turkowski, Kari L., Mazzanti, Andrea, Beckmann, Britt M., Shimamoto, Keiko, Diamant, Ulla-Britt, Wijeyeratne, Yanushi D., Kucho, Yu, Robyns, Tomas, Ishikawa, Taisuke, Arbelo, Elena, Christiansen, Michael, Winbo, Annika, Jabbari, Reza, Lubitz, Steven A., Steinfurt, Johannes, Rudic, Boris, Loeys, Bart, Shoemaker, M. Ben, Weeke, Peter E., Pfeiffer, Ryan, Davies, Brianna, Andorin, Antoine, Hofman, Nynke, Dagradi, Federica, Pedrazzini, Matteo, Tester, David J., Bos, J. Martijn, Sarquella-Brugada, Georgia, Campuzano, Óscar, Platonov, Pyotr G., Stallmeyer, Birgit, Zumhagen, Sven, Nannenberg, Eline A., Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Shaw, Christopher E., Shaw, Pamela J., Morrison, Karen E., Andersen, Peter M., Müller-Nurasyid, Martina, Cusi, Daniele, Barlassina, Cristina, Galan, Pilar, Lathrop, Mark, Munter, Markus, Werge, Thomas, Ribasés, Marta, Aung, Tin, Khor, Chiea C., Ozaki, Mineo, Lichtner, Peter, Meitinger, Thomas, van Tintelen, J. Peter, Hoedemaekers, Yvonne, Denjoy, Isabelle, Leenhardt, Antoine, Napolitano, Carlo, Shimizu, Wataru, Schott, Jean-Jacques, Gourraud, Jean-Baptiste, Makiyama, Takeru, Ohno, Seiko, Itoh, Hideki, Krahn, Andrew D., Antzelevitch, Charles, Roden, Dan M., Saenen, Johan, Borggrefe, Martin, Odening, Katja E., Ellinor, Patrick T., Tfelt-Hansen, Jacob, Skinner, Jonathan R., van den Berg, Maarten P., Olesen, Morten Salling, Brugada, Josep, Brugada, Ramón, Makita, Naomasa, Breckpot, Jeroen, Yoshinaga, Masao, Behr, Elijah R., Rydberg, Annika, Aiba, Takeshi, Kääb, Stefan, Priori, Silvia G., Guicheney, Pascale, Tan, Hanno L., Newton-Cheh, Christopher, Ackerman, Michael J., Schwartz, Peter J., Schulze-Bahr, Eric, Probst, Vincent, Horie, Minoru, Wilde, Arthur A., Tanck, Michael W.T., Bezzina, Connie R.
Τόπος έκδοσης Circulation (2020)

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

ανά Walsh, Roddy, Lahrouchi, Najim, Tadros, Rafik, Kyndt, Florence, Glinge, Charlotte, Postema, Pieter G., Amin, Ahmad S., Nannenberg, Eline A., Ware, James S., Whiffin, Nicola, Mazzarotto, Francesco, Škorić-Milosavljević, Doris, Krijger, Christian, Arbelo, Elena, Babuty, Dominique, Barajas-Martinez, Hector, Beckmann, Britt M., Bézieau, Stéphane, Bos, J. Martijn, Breckpot, Jeroen, Campuzano, Oscar, Castelletti, Silvia, Celen, Candan, Clauss, Sebastian, Corveleyn, Anniek, Crotti, Lia, Dagradi, Federica, de Asmundis, Carlo, Denjoy, Isabelle, Dittmann, Sven, Ellinor, Patrick T., Ortuño, Cristina Gil, Giustetto, Carla, Gourraud, Jean-Baptiste, Hazeki, Daisuke, Horie, Minoru, Ishikawa, Taisuke, Itoh, Hideki, Kaneko, Yoshiaki, Kanters, Jørgen K., Kimoto, Hiroki, Kotta, Maria-Christina, Krapels, Ingrid P. C., Kurabayashi, Masahiko, Lazarte, Julieta, Leenhardt, Antoine, Loeys, Bart L., Lundin, Catarina, Makiyama, Takeru, Mansourati, Jacques, Martins, Raphaël P., Mazzanti, Andrea, Mörner, Stellan, Napolitano, Carlo, Ohkubo, Kimie, Papadakis, Michael, Rudic, Boris, Molina, Maria Sabater, Sacher, Frédéric, Sahin, Hatice, Sarquella-Brugada, Georgia, Sebastiano, Regina, Sharma, Sanjay, Sheppard, Mary N., Shimamoto, Keiko, Shoemaker, M. Benjamin, Stallmeyer, Birgit, Steinfurt, Johannes, Tanaka, Yuji, Tester, David J., Usuda, Keisuke, van der Zwaag, Paul A., Van Dooren, Sonia, Van Laer, Lut, Winbo, Annika, Winkel, Bo G., Yamagata, Kenichiro, Zumhagen, Sven, Volders, Paul G. A., Lubitz, Steven A., Antzelevitch, Charles, Platonov, Pyotr G., Odening, Katja E., Roden, Dan M., Roberts, Jason D., Skinner, Jonathan R., Tfelt-Hansen, Jacob, van den Berg, Maarten P., Olesen, Morten S., Lambiase, Pier D., Borggrefe, Martin, Hayashi, Kenshi, Rydberg, Annika, Nakajima, Tadashi, Yoshinaga, Masao, Saenen, Johan B., Kääb, Stefan, Brugada, Pedro, Robyns, Tomas, Giachino, Daniela F., Ackerman, Michael J., Brugada, Ramon, Brugada, Josep, Gimeno, Juan R., Hasdemir, Can, Guicheney, Pascale, Priori, Silvia G., Schulze-Bahr, Eric, Makita, Naomasa, Schwartz, Peter J., Shimizu, Wataru, Aiba, Takeshi, Schott, Jean-Jacques, Redon, Richard, Ohno, Seiko, Probst, Vincent, Behr, Elijah R., Barc, Julien, Bezzina, Connie R.
Τόπος έκδοσης Genet Med (2020)