Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy
Lopes, Luis R, Garcia-Hernández, Soledad, Lorenzini, Massimiliano, Futema, Marta, Chumakova, Olga, Zateyshchikov, Dmitry, Isidoro-Garcia, Maria, Villacorta, Eduardo, Escobar-Lopez, Luis, Garcia-Pavia, Pablo, Bilbao, Raquel, Dobarro, David, Sandin-Fuentes, Maria, Catalli, Claudio, Gener Querol, Blanca, Mezcua, Ainhoa, Garcia Pinilla, Jose, Bloch Rasmussen, Torsten, Ferreira-Aguar, Ana, Revilla-Martí, Pablo, Basurte Elorz, Maria Teresa, Bautista Paves, Alicia, Ramon Gimeno, Juan, Figueroa, Ana Virginia, Franco-Gutierrez, Raul, Fuentes-Cañamero, Maria Eugenia, Martinez Moreno, Marina, Ortiz-Genga, Martin, Piqueras-Flores, Jesus, Analia Ramos, Karina, Rudzitis, Ainars, Ruiz-Guerrero, Luis, Stein, Ricardo, Triguero-Bocharán, Mayte, de la Higuera, Luis, Ochoa, Juan Pablo, Abu-Bonsrah, Dad, Kwok, Cecilia Y T, Smith, Jacob B, Porrello, Enzo R, Akhtar, Mohammed M, Jager, Joanna, Ashworth, Michael, Syrris, Petros, Elliott, David A, Monserrat, Lorenzo, Elliott, Perry M
Published in European heart journal (21.08.2021)
Published in European heart journal (21.08.2021)
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Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
Martinez-Cayuelas, Elena, Blanco-Kelly, Fiona, Lopez-Grondona, Fermina, Swafiri, Saoud Tahsin, Lopez-Rodriguez, Rosario, Losada-Del Pozo, Rebeca, Mahillo-Fernandez, Ignacio, Moreno, Beatriz, Rodrigo-Moreno, Maria, Casas-Alba, Didac, Lopez-Gonzalez, Aitor, García-Miñaúr, Sixto, Ángeles Mori, Maria, Pacio-Minguez, Marta, Rikeros-Orozco, Emi, Santos-Simarro, Fernando, Cruz-Rojo, Jaime, Quesada-Espinosa, Juan Francisco, Sanchez-Calvin, Maria Teresa, Sanchez-del Pozo, Jaime, Bernado Fonz, Raquel, Isidoro-Garcia, Maria, Ruiz-Ayucar, Irene, Alvarez-Mora, Maria Isabel, Blanco-Lago, Raquel, De Azua, Begoña, Eiris, Jesus, Garcia-Peñas, Juan Jose, Gil-Fournier, Belen, Gomez-Lado, Carmen, Irazabal, Nadia, Lopez-Gonzalez, Vanessa, Madrigal, Irene, Malaga, Ignacio, Martinez-Menendez, Beatriz, Ramiro-Leon, Soraya, Garcia-Hoyos, Maria, Prieto-Matos, Pablo, Lopez-Pison, Javier, Aguilera-Albesa, Sergio, Alvarez, Sara, Fernández-Jaén, Alberto, Llano-Rivas, Isabel, Gener-Querol, Blanca, Ayuso, Carmen, Arteche-Lopez, Ana, Palomares-Bralo, Maria, Cueto-González, Anna, Valenzuela, Irene, Martinez-Monseny, Antonio, Lorda-Sanchez, Isabel, Almoguera, Berta
Published in Journal of medical genetics (01.07.2023)
Published in Journal of medical genetics (01.07.2023)
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Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations
Fergelot, Patricia, Van Belzen, Martine, Van Gils, Julien, Afenjar, Alexandra, Armour, Christine M., Arveiler, Benoit, Beets, Lex, Burglen, Lydie, Busa, Tiffany, Collet, Marie, Deforges, Julie, de Vries, Bert B. A., Dominguez Garrido, Elena, Dorison, Nathalie, Dupont, Juliette, Francannet, Christine, Garciá-Minaúr, Sixto, Gabau Vila, Elisabeth, Gebre-Medhin, Samuel, Gener Querol, Blanca, Geneviève, David, Gérard, Marion, Gervasini, Cristina Giovanna, Goldenberg, Alice, Josifova, Dragana, Lachlan, Katherine, Maas, Saskia, Maranda, Bruno, Moilanen, Jukka S., Nordgren, Ann, Parent, Philippe, Rankin, Julia, Reardon, Willie, Rio, Marlène, Roume, Joëlle, Shaw, Adam, Smigiel, Robert, Sojo, Amaia, Solomon, Benjamin, Stembalska, Agnieszka, Stumpel, Constance, Suarez, Francisco, Terhal, Paulien, Thomas, Simon, Touraine, Renaud, Verloes, Alain, Vincent-Delorme, Catherine, Wincent, Josephine, Peters, Dorien J. M., Bartsch, Oliver, Larizza, Lidia, Lacombe, Didier, Hennekam, Raoul C.
Published in American journal of medical genetics. Part A (01.12.2016)
Published in American journal of medical genetics. Part A (01.12.2016)
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Miller (Genée―Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH
RAINGER, Joe, BENGANI, Hemant, MERCER, Catherine, MCKENZIE, Kathryn, LENGFELD, Tobias, QUEROKL, Blanca Gener, BRANNEY, Peter, MCKAY, Stewart, MORRISON, Harris, MEDINA, Bethan, ROBERTSON, Morag, KOHLHASE, Jurgen, CAMPBELL, Leigh, GORDON, Colin, KIRK, Jean, WIECZOREK, Dagmar, FITZPATRICK, David R, ANDERSON, Eve, SOKHI, Kishan, LAM, Wayne, RIESS, Angelika, ANSARI, Morad, SMITHSON, Sarah, LEES, Melissa
Published in Human molecular genetics (15.09.2012)
Published in Human molecular genetics (15.09.2012)
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