Isolation, in silico characterization and chromosomal localization of a group of cDNAs from ciliated epithelial cells after in vitro ciliogenesis

por Maiti, Amit K, Jorissen, Mark, Bouvagnet, Patrice
Publicado 2001

A HAND to TBX5 Explains the Link Between Thalidomide and Cardiac Diseases

por Khalil, Athar, Tanos, Rachel, El-Hachem, Nehmé, Kurban, Mazen, Bouvagnet, Patrice, Bitar, Fadi, Nemer, Georges
Publicado 2017

Ciliary Beating Recovery in Deficient Human Airway Epithelial Cells after Lentivirus Ex Vivo Gene Therapy

por Chhin, Brigitte, Negre, Didier, Merrot, Olivier, Pham, Jacqueline, Tourneur, Yves, Ressnikoff, Denis, Jaspers, Martine, Jorissen, Mark, Cosset, François-Loïc, Bouvagnet, Patrice
Publicado 2009

A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Mi...

por Augière, Céline, Mégy, Simon, El Malti, Rajae, Boland, Anne, El Zein, Loubna, Verrier, Bernard, Mégarbané, André, Deleuze, Jean-François, Bouvagnet, Patrice
Publicado 2015

TRPM4 non-selective cation channel variants in long QT syndrome

por Hof, Thomas, Liu, Hui, Sallé, Laurent, Schott, Jean-Jacques, Ducreux, Corinne, Millat, Gilles, Chevalier, Philippe, Probst, Vincent, Guinamard, Romain, Bouvagnet, Patrice
Publicado 2017

Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain

por Hatayama, Minoru, Tomizawa, Tadashi, Sakai-Kato, Kumiko, Bouvagnet, Patrice, Kose, Shingo, Imamoto, Naoko, Yokoyama, Shigeyuki, Utsunomiya-Tate, Naoko, Mikoshiba, Katsuhiko, Kigawa, Takanori, Aruga, Jun
Publicado 2008

A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death

por Teirlinck, Carolien H, Senni, Faïza, Malti, Rajae El, Majoor-Krakauer, Danielle, Fellmann, Florence, Millat, Gilles, André-Fouët, Xavier, Pernot, François, Stumpf, Michaël, Boutarin, Jean, Bouvagnet, Patrice
Publicado 2012

Molecular Genetics and Functional Anomalies in a Series of 248 Brugada Cases with 11 Mutations in the TRPM4 Channel

por Liu, Hui, Chatel, Stéphanie, Simard, Christophe, Syam, Ninda, Salle, Laurent, Probst, Vincent, Morel, Julie, Millat, Gilles, Lopez, Michel, Abriel, Hugues, Schott, Jean-Jacques, Guinamard, Romain, Bouvagnet, Patrice
Publicado 2013

Cardiac Alpha-Myosin (MYH6) Is the Predominant Sarcomeric Disease Gene for Familial Atrial Septal Defects

por Posch, Maximilian G., Waldmuller, Stephan, Müller, Melanie, Scheffold, Thomas, Fournier, David, Andrade-Navarro, Miguel A., De Geeter, Bernard, Guillaumont, Sophie, Dauphin, Claire, Yousseff, Dany, Schmitt, Katharina R., Perrot, Andreas, Berger, Felix, Hetzer, Roland, Bouvagnet, Patrice, Özcelik, Cemil
Publicado 2011

Familial co-occurrence of congenital heart defects follows distinct patterns

por Ellesøe, Sabrina G, Workman, Christopher T, Bouvagnet, Patrice, Loffredo, Christopher A, McBride, Kim L, Hinton, Robert B, van Engelen, Klaartje, Gertsen, Emma C, Mulder, Barbara J M, Postma, Alex V, Anderson, Robert H, Hjortdal, Vibeke E, Brunak, Søren, Larsen, Lars A
Publicado 2018

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects

por Onoufriadis, Alexandros, Shoemark, Amelia, Schmidts, Miriam, Patel, Mitali, Jimenez, Gina, Liu, Hui, Thomas, Biju, Dixon, Mellisa, Hirst, Robert A., Rutman, Andrew, Burgoyne, Thomas, Williams, Christopher, Scully, Juliet, Bolard, Florence, Lafitte, Jean-Jacques, Beales, Philip L., Hogg, Claire, Yang, Pinfen, Chung, Eddie M.K., Emes, Richard D., O'Callaghan, Christopher, Bouvagnet, Patrice, Mitchison, Hannah M.
Publicado 2014

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

por Guimier, Anne, Gabriel, George C., Bajolle, Fanny, Tsang, Michael, Liu, Hui, Noll, Aaron, Schwartz, Molly, El Malti, Rajae, Smith, Laurie D., Klena, Nikolai T., Jimenez, Gina, Miller, Neil A., Oufadem, Myriam, Moreau de Bellaing, Anne, Yagi, Hisato, Saunders, Carol J., Baker, Candice N., Di Filippo, Sylvie, Peterson, Kevin A., Thiffault, Isabelle, Bole-Feysot, Christine, Cooley, Linda D., Farrow, Emily G., Masson, Cécile, Schoen, Patric, Deleuze, Jean-François, Nitschké, Patrick, Lyonnet, Stanislas, de Pontual, Loic, Murray, Stephen A., Bonnet, Damien, Kingsmore, Stephen F., Amiel, Jeanne, Bouvagnet, Patrice, Lo, Cecilia W., Gordon, Christopher T.
Publicado 2015

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

por Škorić-Milosavljević, Doris, Tadros, Rafik, Bosada, Fernanda M., Tessadori, Federico, van Weerd, Jan Hendrik, Woudstra, Odilia I., Tjong, Fleur V.Y., Lahrouchi, Najim, Bajolle, Fanny, Cordell, Heather J., Agopian, A.J., Blue, Gillian M., Barge-Schaapveld, Daniela Q.C.M., Gewillig, Marc, Preuss, Christoph, Lodder, Elisabeth M., Barnett, Phil, Ilgun, Aho, Beekman, Leander, van Duijvenboden, Karel, Bokenkamp, Regina, Müller-Nurasyid, Martina, Vliegen, Hubert W., Konings, Thelma C., van Melle, Joost P., van Dijk, Arie P.J., van Kimmenade, Roland R.J., Roos-Hesselink, Jolien W., Sieswerda, Gertjan T., Meijboom, Folkert, Abdul-Khaliq, Hashim, Berger, Felix, Dittrich, Sven, Hitz, Marc-Phillip, Moosmann, Julia, Riede, Frank-Thomas, Schubert, Stephan, Galan, Pilar, Lathrop, Mark, Munter, Hans M., Al-Chalabi, Ammar, Shaw, Christopher E., Shaw, Pamela J., Morrison, Karen E., Veldink, Jan H., van den Berg, Leonard H., Evans, Sylvia, Nobrega, Marcelo A., Aneas, Ivy, Radivojkov-Blagojević, Milena, Meitinger, Thomas, Oechslin, Erwin, Mondal, Tapas, Bergin, Lynn, Smythe, John F., Altamirano-Diaz, Luis, Lougheed, Jane, Bouma, Berto J., Chaix, Marie-A., Kline, Jennie, Bassett, Anne S., Andelfinger, Gregor, van der Palen, Roel L.F., Bouvagnet, Patrice, Clur, Sally-Ann B., Breckpot, Jeroen, Kerstjens-Frederikse, Wilhelmina S., Winlaw, David S., Bauer, Ulrike M.M., Mital, Seema, Goldmuntz, Elizabeth, Keavney, Bernard, Bonnet, Damien, Mulder, Barbara J., Tanck, Michael W.T., Bakkers, Jeroen, Christoffels, Vincent M., Boogerd, Cornelis J., Postma, Alex V., Bezzina, Connie R.
Publicado 2021