A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases
Bullich, Gemma, Domingo-Gallego, Andrea, Vargas, Iván, Ruiz, Patricia, Lorente-Grandoso, Laura, Furlano, Mónica, Fraga, Gloria, Madrid, Álvaro, Ariceta, Gema, Borregán, Mar, Piñero-Fernández, Juan Alberto, Rodríguez-Peña, Lidia, Ballesta-Martínez, Maria Juliana, Llano-Rivas, Isabel, Meñica, Mireia Aguirre, Ballarín, José, Torrents, David, Torra, Roser, Ars, Elisabet
Published in Kidney international (01.08.2018)
Published in Kidney international (01.08.2018)
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Journal Article
Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice
Mates, Jesus, Mademont-Soler, Irene, Del Olmo, Bernat, Ferrer-Costa, Carles, Coll, Monica, Pérez-Serra, Alexandra, Picó, Ferran, Allegue, Catarina, Fernandez-Falgueras, Anna, Álvarez, Patricia, Yotti, Raquel, Espinosa, Maria Angeles, Sarquella-Brugada, Georgia, Cesar, Sergi, Carro, Ester, Brugada, Josep, Arbelo, Elena, Garcia-Pavia, Pablo, Borregan, Mar, Tizzano, Eduardo, López-Granados, Amador, Mazuelos, Francisco, Díaz de Bustamante, Aranzazu, Darnaude, Maria Teresa, González-Hevia, José Ignacio, Díaz-Flores, Felícitas, Trujillo, Francisco, Iglesias, Anna, Fernandez-Aviles, Francisco, Campuzano, Oscar, Brugada, Ramon
Published in European journal of human genetics : EJHG (01.07.2018)
Published in European journal of human genetics : EJHG (01.07.2018)
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Journal Article
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG
Martinez-Monseny, Antonio, Cuadras, Daniel, Bolasell, Mercè, Muchart, Jordi, Arjona, César, Borregan, Mar, Algrabli, Adi, Montero, Raquel, Artuch, Rafael, Velázquez-Fragua, Ramón, Macaya, Alfons, Pérez-Cerdá, Celia, Pérez-Dueñas, Belén, Pérez, Belén, Serrano, Mercedes
Published in Journal of medical genetics (01.04.2019)
Published in Journal of medical genetics (01.04.2019)
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Journal Article
Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease
Gago-Díaz, Marina, Blanco-Verea, Alejandro, Teixidó-Turà, Gisela, Valenzuela, Irene, Del Campo, Miguel, Borregan, Mar, Sobrino, Beatriz, Amigo, Jorge, García-Dorado, David, Evangelista, Artur, Carracedo, Ángel, Brion, María
Published in Clinica chimica acta (01.11.2014)
Published in Clinica chimica acta (01.11.2014)
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Journal Article
Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio
Castells-Sarret, Neus, Cueto-González, Anna M, Borregan, Mar, López-Grondona, Fermina, Miró, Rosa, Tizzano, Eduardo, Plaja, Alberto
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.07.2018)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.07.2018)
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Journal Article
Beyond the disease itself: A cross‐cutting educational initiative for patients and families with rare diseases
Rovira‐Moreno, Eulàlia, Abuli, Anna, Codina‐Sola, Marta, Valenzuela, Irene, Serra‐Juhe, Clara, Cuscó, Ivon, Borregán, Mar, Cueto‐González, Anna, Vendrell, Teresa, López‐Grondona, Fermina, Brun‐Gasca, Carme, Brignani, Eduardo, Martínez‐Ribot, Laia, Garci‐Espejo, Regla, Cruz, Jordi, García‐Arumí, Elena, Tizzano, Eduardo F.
Published in Journal of genetic counseling (01.06.2021)
Published in Journal of genetic counseling (01.06.2021)
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Journal Article
Heterogeneity of aortic disease severity in patients with Loeys–Dietz syndrome
Teixidó-Tura, Gisela, Franken, Romy, Galuppo, Valentina, Gutiérrez García-Moreno, Laura, Borregan, Mar, Mulder, Barbara J M, García-Dorado, David, Evangelista, Artur
Published in Heart (British Cardiac Society) (01.04.2016)
Published in Heart (British Cardiac Society) (01.04.2016)
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Journal Article
Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis
Castells-Sarret, Neus, Cueto-González, Anna M, Borregan, Mar, López-Grondona, Fermina, Miró, Rosa, Tizzano, Eduardo, Plaja, Alberto
Published in Anales de Pediatría (01.07.2018)
Published in Anales de Pediatría (01.07.2018)
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Journal Article
Comparative genomic hybridisation as a first option in genetic diagnosis: 1000 cases and a cost–benefit analysis
Castells-Sarret, Neus, Cueto-González, Anna M., Borregan, Mar, López-Grondona, Fermina, Miró, Rosa, Tizzano, Eduardo, Plaja, Alberto
Published in Anales de Pediatría (01.07.2018)
Published in Anales de Pediatría (01.07.2018)
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Journal Article
A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region
Plaja, Alberto, Castells, Neus, Cueto-González, Anna M., del Campo, Miguel, Vendrell, Teresa, Lloveras, Elisabet, Izquierdo, Luis, Borregan, Mar, Rodríguez-Santiago, Benjamín, Carrió, Anna, Miró, Rosa, Tizzano, Eduardo
Published in Cytogenetic and genome research (01.11.2015)
Published in Cytogenetic and genome research (01.11.2015)
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Journal Article
Comparative genomic hybridisation as a first option in genetic diagnosis: 1000 cases and a cost–benefit analysis
Neus Castells-Sarret, Anna M. Cueto-González, Mar Borregan, Fermina López-Grondona, Rosa Miró, Eduardo Tizzano, Alberto Plaja
Published in Anales de Pediatría (01.07.2018)
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Published in Anales de Pediatría (01.07.2018)
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