Search Results - "Tapia, M. Cruz"

multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy by 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

“…Autosomal recessive nonsyndromic hearing impairment (NSHI) is a heterogeneous condition, for which 53 genetic loci have been reported, and 29 genes have been…”
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Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF) by Rodríguez-Ballesteros, Montserrat, del Castillo, Francisco J., Martín, Yolanda, Moreno-Pelayo, Miguel A., Morera, Constantino, Prieto, Félix, Marco, Jaime, Morant, Antonio, Gallo-Terán, Jaime, Morales-Angulo, Carmelo, Navas, Cristina, Trinidad, Germán, Tapia, M. Cruz, Moreno, Felipe, Castillo, Ignacio del

“…Inherited hearing impairment affects one in 2,000 newborns. Nonsyndromic prelingual forms are inherited mainly as autosomal recessive traits, for which 16…”
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De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome by Álvarez, Araceli, del Castillo, Ignacio, Pera, Alejandra, Villamar, Manuela, Moreno-Pelayo, Miguel A., Moreno, Felipe, Moreno, Ramón, Tapia, M. Cruz

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Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss by del Castillo, F J, Rodríguez-Ballesteros, M, Martín, Y, Arellano, B, Gallo-Terán, J, Morales-Angulo, C, Ramírez-Camacho, R, Cruz Tapia, M, Solanellas, J, Martínez-Conde, A, Villamar, M, Moreno-Pelayo, M A, Moreno, F, del Castillo, I

“…[...]statistical analysis of our data indicates a significant correlation of the the severity of the hearing loss with the mutation load when considering the…”
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A Novel Locus for Non-syndromic Sensorineural Deafness (DFN6) Maps to Chromosome Xp22 by del Castillo, Ignacio, Villamar, Manuela, Sarduy, Maritza, Romero, Lourdes, Herraiz, Carlos, Javier Hernández, F., Rodríguez, Mariano, Borrás, Isabel, Montero, Ángeles, Bellón, Joaquín, Cruz Tapia, M., Moreno, Felipe

“…Non-syndromic X-linked deafness is highly heterogeneous. At least five different clinical forms have been described, but only two loci have been mapped. Here…”
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X-linked non-syndromic sensorineural deafness: the DFN6 locus by del Castillo, I, Rodríguez, M, Cruz Tapia, M, Moreno, F

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Meningitis por Streptococcus pneumoniae resistente a ceftriaxona: reporte de un caso by Saavedra-Velasco, Marcos, Tapia-Cruz, Mariel, Grandez-Urbina, J. Antonio, Zegarra Del Rosario-Alvarado, Saarah, Mendo-Urbina, Fernando, Pichardo-Rodriguez, Rafael

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Auditory neuropathy in patients carrying mutations in the otoferlin gene ( OTOF ): OTOF AND AUDITORY NEUROPATHY by Rodríguez-Ballesteros, Montserrat, del Castillo, Francisco J., Martín, Yolanda, Moreno-Pelayo, Miguel A., Morera, Constantino, Prieto, Félix, Marco, Jaime, Morant, Antonio, Gallo-Terán, Jaime, Morales-Angulo, Carmelo, Navas, Cristina, Trinidad, Germán, Tapia, M. Cruz, Moreno, Felipe, Castillo, Ignacio del

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Heteroplasmy for the 1555AG mutation in the mitochondrial 12S rRNA gene six Spanish families with non-syndromic hearing loss by del Castillo, FJ, Rodriguez-Ballesteros, M, Ma, Arellano, B, Gallo-Teran, J, Morales-Angulo, C, Ramirez-Camacho, R, Cruz Tapia, M, Solanellas, J, Ma, Villamar, M, Moreno-Pelayo, MA, Moreno, F, del Castillo, I

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De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome by Alvarez, Araceli, del Castillo, Ignacio, Pera, Alejandra, Villamar, Manuela, Moreno-Pelayo, Miguel A, Moreno, Felipe, Moreno, Ramón, Tapia, M Cruz

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