Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy

por Motta, Fabiana L., Martin, Renan P., Porto, Fernanda B. O., Wohler, Elizabeth S., Resende, Rosane G., Gomes, Caio P., Pesquero, João B., Sallum, Juliana M. F.
Publicado 2019

Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients

por Varela, Patrícia, Mastroianni Kirsztajn, Gianna, Motta, Fabiana L., Martin, Renan P., Turaça, Lauro T., Ferrer, Henrique L. F., Gomes, Caio P., Nicolicht, Priscila, Mara Marins, Maryana, Pessoa, Juliana G., Braga, Marion C., D’Almeida, Vânia, Martins, Ana Maria, Pesquero, João B.
Publicado 2020

Abstracts from the 10th C1-inhibitor deficiency workshop

por Schmaier, Alvin H., Cicardi, Marco, Reshef, Avner, Moldovan, Dumitru, Mócsai, Attila, López-Trascasa, Margarita, Lera, Alberto López, Brown, Nancy J., Germenis, Anastasios E., Filippelli-Silva, Rafael, Duarte, Diego A., Martin, Renan P., Veronez, Camila L., Bouvier, Michel, Bader, Michael, Costa-Neto, Claudio M., Pesquero, João Bosco, Charest-Morin, Xavier, Marceau, François, Rivard, Georges-É., Bonnefoy, Arnaud, Wagner, Éric, Debreczeni, Márta L., Németh, Zsuzsanna, Kajdácsi, Erika, Schwaner, Endre, Cervenak, László, Oroszlán, Gábor, Szilágyi, András, Dani, Ráhel, Závodszky, Péter, Gál, Péter, Dobó, József, Hébert, Jacques, Vincent, Matthieu, Boursiquot, Jean-Nicolas, Chapdeleine, Hugo, Desjardins, Marylin, Laramée, Benoit, Gagnon, Rémi, Payette, Nancy, Lepeshkina, Oleksandra, Charignon, Delphine, Ghannam, Arije, Ponard, Denise, Drouet, Christian, Joseph, Kusumam, Tholanikunnel, Baby G., Sexton, Daniel J., Kaplan, Allen P., Loffredo, Stefania, Bova, Maria, Ferrara, Anne Lise, Petraroli, Angelica, Suffritti, Chiara, Veszeli, Nóra, Zanichelli, Andrea, Farkas, Henriette, Marone, Gianni, Luyasu, Samuel, Favier, Bertrand, Martin, Ludovic, Kőhalmi, Kinga Viktória, Temesszentandrási, György, Várnai, Katalin, Varga, Lilian, Zuraw, Bruce L., Feussner, Annette, Tortorici, Michael A., Pawaskar, Dipti, Li, Huamin Henry, Anderson, John, Bernstein, Jonathan A., Zhang, Ying, Pragst, Ingo, Aygören-Pürsün, Emel, Jacobson, Kraig, Christensen, Jim, Van Leerberghe, Arthur, Wang, Yi, Schranz, Jennifer, Martinez-Saguer, Inmaculada, Soteres, Daniel, Steiner, Urs, Panovska, Vesna Grivcheva, Rae, William, Aberer, Werner, Huissoon, Aarnoud, Bygum, Anette, Magerl, Markus, Graff, Jochen, Longhurst, Hilary, Lleonart, Ramón, Fang, Lei, Cornpropst, Melanie, Clemons, Desiree, Mathis, Amanda, Collis, Phil, Dobo, Sylvia, Sheridan, William P., Maurer, Marcus, Riedl, Marc A., Craig, Timothy, Banerji, Aleena, Shennak, Mustafa, Yang, William, Baptista, Jovanna, Busse, Paula, Kalfus, Ira, McDonald, Andrew, Qian, Shawn, Roberts, Anthony, Panousis, Con, Green, Tim, Gille, Andreas, Zamanakou, Maria, Loules, Gedeon, Csuka, Dorottya, Psarros, Fotis, Parsopoulou, Faidra, Speletas, Matthaios, Firinu, Davide, De Pasquale, Tiziana Maria Angela, Zoli, Alessandra, Radice, Anna, Pizzimenti, Stefano, Manoussakis, Emmanouil, Konstantinou, George N., Bafunno, Valeria, Montinaro, Vincenzo, Cancian, Mauro, Margaglione, Maurizio, Bork, Konrad, Wulff, Karin, Witzke, Guenther, Hardt, Jochen, Bouillet, Laurence, Caballero, Teresa, Grumach, Anete S., Pommie, Christelle, Andresen, Irmgard, Ettingshausen, Carmen Escuriola, Gutowski, Zeynep, Andritschke, Karin, Linde, Richard, Andrási, Noémi, Szilágyi, Tamás, Leibovich-Nassi, Iris, Symons, Christine, Dempster, John, Boccon-Gibod, Isabelle, Pagnier, Anne, Lehmann, Audrey, Kreiberg, Kristian B., Nieto, Sandra A., Martins, Raquel, Martins, Renata, Menendez, Alejandra, Valle, Solange O. R., Olivares, Margarita, Hernandez-Landeros, Maria E., Nievas, Elma, Fili, Natalia, Barrera, Olga M., Bailleau, René, Gallardo-Olivos, Ana Maria, Grau, Masumi, Rodriguez-Galindo, Julian, Carabantes, Marlon J. O., Zapata-Venegas, Edison, Alfonso, Mario Martinez, Rosario-Grauert, Maria, Ratti, Manuel, Vaszquez, Daniel, Josviack, Dario, Landivar-Salinas, Luis Fernando, Calderón-Llosa, Oscar M. E., Campilay-Sarmiento, Rolando, Raby, Pablo, Fabiani, Jose, Lumry, William R., Feuersenger, Henrike, Watson, Douglas J., Machnig, Thomas, Lamacchia, Donatella, Hernanz, Adriana, Alvez, Ana, Lluncor, Mariana, Pedrosa, Maria, Cabañas, Rosario, Prior, Nieves, Nordenfelt, Patrik, Nilsson, Mats, Lindfors, Anders, Wahlgren, Carl-Fredrik, Björkander, Janne, Hakl, Roman, Kuklínek, Pavel, Krčmová, Irena, Hanzlíková, Jana, Vachová, Martina, Zachová, Radana, Sobotková, Marta, Strenková, Jana, Litzman, Jiří, Palasopoulou, Maria, Tsinti, Gerasimina, Gianni, Panagiota, Kompoti, Maria, Garrido, Sofia, Dyga, Wojciech, Bogdali, Anna, Obtułowicz, Aleksander, Tomasz, Mikolajczyk, Czarnobilska, Ewa, Obtulowicz, Krystyna, Książek, Teofila, Koncz, Anna, Gulyás, Dominik, Staevska, Maria, Jesenak, Milos, Hrubiskova, Katarina, Bellizzi, L., Relan, A., Wu, Maddalena A., Castelli, Antonio, Colombo, Riccardo, Podda, Gianmarco, Del Medico, Marta, Catena, Emanuele, Casella, Francesco, Perego, Francesca, Afifi, Nada Afifi, Tobaldini, Eleonora, Montano, Nicola, Sánchez-Jareño, Marta, Stobiecki, Marcin, Obtułowicz, Krystyna, Guryanova, Irina, Polyakova, Ekaterina, Lebedz, Viktar, Salivonchik, Andrej, Aleshkevich, Svetlana, Belevtsev, Mikhail, Nordmann-Kleiner, Melanie, Trainotti, Susanne, Hahn, Janina, Greve, Jens, Zabrodska, Liudmyla, Alonso, Maria L. Oliva, Tórtora, Rosangela P., França, Alfeu T., Ribeiro, Marcia G., Fu, Lisa, Kanani, Amin, Lacuesta, Gina, Waserman, Susan, Betschel, Stephen, Espinosa, Melissa I., Contreras, Francisco A., Hrubisko, Martin, Vavrova, Ludmila, Banovcin, Peter, Ayazi, Maryam, Fazlollahi, Mohammad Reza, Saghafi, Shiva, Mohammadian, Sajedeh, Deshiry, Susan Nabilou, Bidad, Kiana, Shoormasti, Raheleh Shokouhi, Mohammadzadeh, Iraj, Bemanian, Mohammad Hassan, Mahdaviani, Seyed Alireza, Pourpak, Zahra, Valerieva, Anna, Vasileva, Mariela, Velikova, Tsvetelina, Petkova, Elena, Dimitrov, Vasil, Di Maulo, Ruggero, Somech, Raz, Golander, Hava, Sifuentes, Erika J., Mansard, Catherine, Gompel, Anne, Floccard, Bernard, Blanchard-Delaunay, Claire, Launay, David, Fain, Olivier, Sobel, Alain, Gayet, Stéphane, Amarger, Stéphanie, Armengol, Guillaume, Ollivier, Yann, Zélinsky-Gurung, Ariane, Jeandel, Pierre-Yves, Kanny, Gisèle, Coppéré, Brigitte, Dubrel, Marie, Pelletier, Fabien, Du Thanh, Aurélie, Trouiller, Sébastien, Laurent, Jérôme, De Moreuil, Claire, Pajot, Christine Audouin, Belot, Alexandre, Rodríguez, Ana, Roa, Dasha, Prieto, Alicia, Baeza, Maria Luisa, Krusheva, Borislava, Almeida, Stephanie K. A., Constantino-Silva, Rosemeire N., Melo, Nyla, Simoes, Joanna Araujo, Palma, Sandra Mitie U., da Silva, Jane, de Azevedo, Bruna F., Mansour, Eli, González-Quevedo, Teresa, Marcos, Carmen, Lobera, Teófilo, de San Pedro, Blanca Sáenz, Avilla, Ernie, Badiou, Jacquie, Binkley, Karen, Borici-Mazi, Rozita, Howlett, Linda, Keith, Paul K., Rowe, Anne, Waite, Peter, Billebeau, Aurore, Boccon-Gibbod, Isabelle, Lis, Kristina, Laitman, Yael, Friedman, Eitan, Gokmen, N. M., Gulbahar, O., Onay, H., Koc, Z. P., Sin, A. Z.
Publicado 2017