Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients
Cabanillas, Rubén, Diñeiro, Marta, Cifuentes, Guadalupe A, Castillo, David, Pruneda, Patricia C, Álvarez, Rebeca, Sánchez-Durán, Noelia, Capín, Raquel, Plasencia, Ana, Viejo-Díaz, Mónica, García-González, Noelia, Hernando, Inés, Llorente, José L, Repáraz-Andrade, Alfredo, Torreira-Banzas, Cristina, Rosell, Jordi, Govea, Nancy, Gómez-Martínez, Justo Ramón, Núñez-Batalla, Faustino, Garrote, José A, Mazón-Gutiérrez, Ángel, Costales, María, Isidoro-García, María, García-Berrocal, Belén, Ordóñez, Gonzalo R, Cadiñanos, Juan
Published in BMC medical genomics (09.07.2018)
Published in BMC medical genomics (09.07.2018)
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Connexin-26 mutations in sporadic and inherited sensorineural deafness
Estivill, Xavier, Fortina, Paolo, Surrey, Saul, Rabionet, Raquel, Melchionda, Salvatore, D'Agruma, Leonardo, Mansfield, Elaine, Rappaport, Eric, Govea, Nancy, Milà, Montse, Zelante, Leopoldo, Gasparini, Paolo
Published in The Lancet (British edition) (07.02.1998)
Published in The Lancet (British edition) (07.02.1998)
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Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes : a new susceptibility factor for mental retardation
TORRES-JUAN, Laura, ROSELL, Jordi, PEREZ-GRANERO, Angeles, GOVEA, Nancy, BUSQUETS, Xavier, HEINE-SUNER, Damian, MORLA, Montse, VIDAL-POU, Catalina, GARCIA-ALGAS, Fernando, DE LA FUENTE, Maria-Angeles, JUAN, Miguel, TUBAU, Albert, BACHILLER, Daniel, BERNUES, Marta
Published in European journal of human genetics : EJHG (01.06.2007)
Published in European journal of human genetics : EJHG (01.06.2007)
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The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans
Ripoll Vera, Tomás, Monserrat Iglesias, Lorenzo, Hermida Prieto, Manuel, Ortiz, Martin, Rodriguez Garcia, Isabel, Govea Callizo, Nancy, Gómez Navarro, Carlos, Rosell Andreo, Jordi, Gámez Martínez, José María, Pons Lladó, Guillermo, Cremer Luengos, David, Torres Marqués, Joan
Published in International journal of cardiology (19.11.2010)
Published in International journal of cardiology (19.11.2010)
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Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations
Ballana, Ester, Govea, Nancy, de Cid, Rafael, Garcia, Cecilia, Arribas, Carles, Rosell, Jordi, Estivill, Xavier
Published in Human mutation (01.02.2008)
Published in Human mutation (01.02.2008)
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Familial Progressive Sensorineural Deafness Is Mainly Due to the mtDNA A1555G Mutation and Is Enhanced by Treatment with Aminoglycosides
Estivill, Xavier, Govea, Nancy, Barceló, Anna, Perelló, Enric, Badenas, Cèlia, Romero, Enrique, Moral, Luis, Scozzari, Rosaria, D'Urbano, Leila, Zeviani, Massimo, Torroni, Antonio
Published in American journal of human genetics (01.01.1998)
Published in American journal of human genetics (01.01.1998)
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Connexin26 Mutations Associated with the Most Common Form of Non-Syndromic Neurosensory Autosomal Recessive Deafness (DFNB1) in Mediterraneans
Zelante, Leopoldo, Gasparini, Paolo, Estivill, Xavier, Melchionda, Salvatore, D'Agruma, Leonardo, Govea, Nancy, Milá, Monserrat, Della Monica, Matteo, Lutfi, Jaber, Shohat, Mordechai, Mansfield, Elaine, Delgrosso, Kathleen, Rappaport, Eric, Surrey, Saul, Fortina, Paolo
Published in Human molecular genetics (01.09.1997)
Published in Human molecular genetics (01.09.1997)
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Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene
Ripoll-Vera, Tomás, Gámez, José María, Govea, Nancy, Gómez, Yolanda, Núñez, Juana, Socías, Lorenzo, Escandell, Ángela, Rosell, Jorge
Published in Revista española de cardiología (English ed.) (01.02.2016)
Published in Revista española de cardiología (English ed.) (01.02.2016)
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Phenotypic Patterns of Cardiomyopathy Caused by Mutations in the Desmin Gene. A Clinical and Genetic Study in Two Inherited Heart Disease Units
Ripoll-Vera, Tomás, Zorio, Esther, Gámez, José M, Molina, Pilar, Govea, Nancy, Crémer, David
Published in Revista española de cardiología (English ed.) (01.11.2015)
Published in Revista española de cardiología (English ed.) (01.11.2015)
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Perfil clínico y pronóstico de las miocardiopatías causadas por mutaciones en el gen de la troponina T
Ripoll-Vera, Tomás, Gámez, José María, Govea, Nancy, Gómez, Yolanda, Núñez, Juana, Socías, Lorenzo, Escandell, Ángela, Rosell, Jorge
Published in Revista española de cardiologia (01.02.2016)
Published in Revista española de cardiologia (01.02.2016)
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Patrón fenotípico de las miocardiopatías por mutaciones en el gen de la desmina. Estudio clínico y genético en dos unidades de cardiopatías familiares
Ripoll-Vera, Tomás, Zorio, Esther, Gámez, José M, Molina, Pilar, Govea, Nancy, Crémer, David
Published in Revista española de cardiologia (01.11.2015)
Published in Revista española de cardiologia (01.11.2015)
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The A1555G Mutation in the 12S rRNA Gene of Human mtDNA: Recurrent Origins and Founder Events in Families Affected by Sensorineural Deafness
Torroni, Antonio, Cruciani, Fulvio, Rengo, Chiara, Sellitto, Daniele, López-Bigas, Núria, Rabionet, Raquel, Govea, Nancy, López de Munain, Adolfo, Sarduy, Maritza, Romero, Lourdes, Villamar, Manuela, del Castillo, Ignacio, Moreno, Felipe, Estivill, Xavier, Scozzari, Rosaria
Published in American journal of human genetics (01.11.1999)
Published in American journal of human genetics (01.11.1999)
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New Variant in Placophilin-2 Gene Causing Arrhythmogenic Myocardiopathy
Caimi-Martinez, Fiama, Antoniutti, Guido, Blanco, Rocio, García de la Villa, Bernardo, Alvarenga, Nelson, Govea-Callizo, Nancy, Torres-Juan, Laura, Heine-Suñer, Damián, Rosell-Andreo, Jordi, Luengos, David Crémer, Alvarez-Rubio, Jorge, Ripoll-Vera, Tomás
Published in Genes (27.04.2022)
Published in Genes (27.04.2022)
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Post-mortem toxicology in the diagnosis of sudden death in young and middle-aged victims
Ripoll, T, García, A B, Gomila, I, Heine, D, Poncela, J L, Sánchez, N, Pérez, C, García, E, Hernández, E, Barceló, A, Busardo, F P, Barceló, B
Published in European review for medical and pharmacological sciences (01.11.2019)
Published in European review for medical and pharmacological sciences (01.11.2019)
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Journal Article
Sudden cardiac death in persons aged 50 years or younger: diagnostic yield of a regional molecular autopsy program using massive sequencing
Ripoll-Vera, Tomás, Pérez Luengo, Consuelo, Borondo Alcázar, Juan Carlos, García Ruiz, Ana Belén, Sánchez Del Valle, Nieves, Barceló Martín, Bernardino, Poncela García, Juan Luis, Gutiérrez Buitrago, Gloria, Dasi Martínez, Concepción, Canós Villena, Juan Carlos, Moyano Corvillo, Susana, Esgueva Pallarés, Raquel, Sancho Sancho, Juan Ramón, Guitart Pinedo, Gemma, Hernández Marín, Elena, García García, Estela, Vingut López, Albert, Álvarez Rubio, Jorge, Govea Callizo, Nancy, Gómez Pérez, Yolanda, Melià Mesquida, Catalina, Heine, Damián, Rosell Andreo, Jordi, Socías Crespí, Lorenzo
Published in Revista española de cardiología (English ed.) (01.05.2021)
Published in Revista española de cardiología (English ed.) (01.05.2021)
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Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome
López-Bigas, Núria, Rabionet, Raquel, de Cid, Rafael, Govea, Nancy, Gasparini, Paolo, Zelante, Leopoldo, Arbonés, Maria Lourdes, Estivill, Xavier
Published in Human mutation (01.01.1999)
Published in Human mutation (01.01.1999)
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Muerte súbita de jóvenes: rendimiento diagnóstico de un programa autonómico de autopsia molecular con secuenciación masiva
Ripoll-Vera, Tomás, Pérez Luengo, Consuelo, Borondo Alcázar, Juan Carlos, García Ruiz, Ana Belén, Sánchez Del Valle, Nieves, Barceló Martín, Bernardino, Poncela García, Juan Luis, Gutiérrez Buitrago, Gloria, Dasi Martínez, Concepción, Canós Villena, Juan Carlos, Moyano Corvillo, Susana, Esgueva Pallarés, Raquel, Sancho Sancho, Juan Ramón, Guitart Pinedo, Gemma, Hernández Marín, Elena, García García, Estela, Vingut López, Albert, Álvarez Rubio, Jorge, Govea Callizo, Nancy, Gómez Pérez, Yolanda, Melià Mesquida, Catalina, Heine, Damián, Rosell Andreo, Jordi, Socías Crespí, Lorenzo
Published in Revista española de cardiologia (01.05.2021)
Published in Revista española de cardiologia (01.05.2021)
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Journal Article
Splice-site mutation in thePDS gene may result in intrafamilial variability for deafness in Pendred syndrome
L pez-Bigas, N ria, Rabionet, Raquel, de Cid, Rafael, Govea, Nancy, Gasparini, Paolo, Zelante, Leopoldo, Arbon s, Maria Lourdes, Estivill, Xavier
Published in Human mutation (01.12.1999)
Published in Human mutation (01.12.1999)
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Journal Article
The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans
Ripoll Vera, Tomás, Monserrat Iglesias, Lorenzo, Hermida Prieto, Manuel, Ortiz, Martin, Rodriguez Garcia, Isabel, Govea Callizo, Nancy, Gómez Navarro, Carlos, Rosell Andreo, Jordi, Gámez Martínez, José María, Pons Lladó, Guillermo, Cremer Luengos, David, Torres Marqués, Joan
Published in International journal of cardiology (19.11.2010)
Published in International journal of cardiology (19.11.2010)
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