A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study
Domínguez-Ruiz, María, Murillo-Cuesta, Silvia, Contreras, Julio, Cantero, Marta, Garrido, Gema, Martín-Bernardo, Belén, Gómez-Rosas, Elena, Fernández, Almudena, Del Castillo, Francisco J, Montoliu, Lluís, Varela-Nieto, Isabel, Del Castillo, Ignacio
Published in BMC genomics (11.04.2024)
Published in BMC genomics (11.04.2024)
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multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy
Rodríguez-Ballesteros, Montserrat, Reynoso, Raúl, Olarte, Margarita, Villamar, Manuela, Morera, Constantino, Santarelli, Rosamaria, Arslan, Edoardo, Medá, Carme, Curet, Carlos, Völter, Christiane, Sainz-Quevedo, Manuel, Castorina, Pierangela, Ambrosetti, Umberto, Berrettini, Stefano, Frei, Klemens, Tedín, Socorro, Smith, Janine, Cruz Tapia, M, Cavallé, Laura, Gelvez, Nancy, Primignani, Paola, Gómez-Rosas, Elena, Martín, Mirta, Moreno-Pelayo, Miguel A, Tamayo, Martalucía, Moreno-Barral, José, Moreno, Felipe, del Castillo, Ignacio
Published in Human mutation (01.06.2008)
Published in Human mutation (01.06.2008)
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Novel Pathogenic Variants in the Gene Encoding Stereocilin ( STRC ) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects
Domínguez-Ruiz, María, Ruiz-Palmero, Laura, Buonfiglio, Paula I, García-Vaquero, Irene, Gómez-Rosas, Elena, Goñi, Marina, Villamar, Manuela, Morín, Matías, Moreno-Pelayo, Miguel A, Elgoyhen, Ana B, Del Castillo, Francisco J, Dalamón, Viviana, Del Castillo, Ignacio
Published in Biomedicines (31.10.2023)
Published in Biomedicines (31.10.2023)
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Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling
Gandía, Marta, Fernández-Toral, Joaquín, Solanellas, Juan, Domínguez-Ruiz, María, Gómez-Rosas, Elena, del Castillo, Francisco J., Villamar, Manuela, Moreno-Pelayo, Miguel A., del Castillo, Ignacio
Published in Pediatric research (01.07.2015)
Published in Pediatric research (01.07.2015)
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Novel Pathogenic Variants in PJVK , the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder
Domínguez-Ruiz, María, Rodríguez-Ballesteros, Montserrat, Gandía, Marta, Gómez-Rosas, Elena, Villamar, Manuela, Scimemi, Pietro, Mancini, Patrizia, Rendtorff, Nanna D, Moreno-Pelayo, Miguel A, Tranebjaerg, Lisbeth, Medà, Carme, Santarelli, Rosamaria, Del Castillo, Ignacio
Published in Genes (15.01.2022)
Published in Genes (15.01.2022)
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MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse
Wesdorp, Mieke, Murillo-Cuesta, Silvia, Peters, Theo, Celaya, Adelaida M., Oonk, Anne, Schraders, Margit, Oostrik, Jaap, Gomez-Rosas, Elena, Beynon, Andy J., Hartel, Bas P., Okkersen, Kees, Koenen, Hans J.P.M., Weeda, Jack, Lelieveld, Stefan, Voermans, Nicol C., Joosten, Irma, Hoyng, Carel B., Lichtner, Peter, Kunst, Henricus P.M., Feenstra, Ilse, de Bruijn, Suzanne E., van Dooren, M.F., de Gier, H.H.W., Hoefsloot, E.H., van der Schroeff, M.P., Kant, S.G., Rotteveel, L.J.C., Frints, S.G.M., Hof, J.R., Stokroos, R.J., Vanhoutte, E.K., Admiraal, R.J.C., Feenstra, I., Kremer, H., Kunst, H.P.M., Pennings, R.J.E., Yntema, H.G., van Essen, A.J., Free, R.H., Klein-Wassink, J.S., Admiraal, Ronald J.C., Yntema, Helger G., van Wijk, Erwin, del Castillo, Ignacio, Serra, Pau, Varela-Nieto, Isabel, Pennings, Ronald J.E., Kremer, Hannie
Published in American journal of human genetics (05.07.2018)
Published in American journal of human genetics (05.07.2018)
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