DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23 by Moreno-Pelayo, M A, Modamio-Høybjør, S, Mencía, A, del Castillo, I, Chardenoux, S, Fernández-Burriel, M, Lathrop, M, Petit, C, Moreno, F

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Un nuevo caso de síndrome CAPOS/CAOS by González Plata, A., Marcos Toledano, M.M., Correa Martínez, L., Fernández-Burriel Tercero, M.

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Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria by Tort, F, del Toro, M, Lissens, W, Montoya, J, Fernàndez-Burriel, M, Font, A, Buján, N, Navarro-Sastre, A, López-Gallardo, E, Arranz, JA, Riudor, E, Briones, P, Ribes, A

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The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B by Fernández-Burriel, M, Peña, L, Ramos, J C, Cabrera, J C, Marti, M, Rodríguez-Quiñones, F, Chabás, A

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Detection of the fragile X syndrome protein for the evaluation of FMR1 intermediate alleles by CASTELLVI-BEL, Sergi, FERNANDEZ-BURRIEL, Miguel, RIFE, Maria, JIMENEZ, Dolores, MALLOLAS, Judith, SANCHEZ, Aurora, RAMOS, Feliciano, MILA, Montserrat

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High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative by Fuster-García, Carla, García-García, Gema, Jaijo, Teresa, Fornés, Neus, Ayuso, Carmen, Fernández-Burriel, Miguel, Sánchez-De la Morena, Ana, Aller, Elena, Millán, José M.

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Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene by Alías, Laura, Bernal, Sara, Fuentes-Prior, Pablo, Barceló, María Jesus, Also, Eva, Martínez-Hernández, Rebeca, Rodríguez-Alvarez, Francisco J., Martín, Yolanda, Aller, Elena, Grau, Elena, Peciña, Ana, Antiñolo, Guillermo, Galán, Enrique, Rosa, Alberto L., Fernández-Burriel, Miguel, Borrego, Salud, Millán, José M., Hernández-Chico, Concepción, Baiget, Montserrat, Tizzano, Eduardo F.

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Williams-Beuren syndrome and West "syndrome:" Causal association or contiguous gene deletion syndrome? by Tercero, Miguel Fernández-Burriel, Cabrera López, José Carlos, Herrero, Milagros Marti, Rodríguez-Quiñones, Francisco

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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications by Perea-Romero, Irene, Gordo, Gema, Iancu, Ionut F., Del Pozo-Valero, Marta, Almoguera, Berta, Blanco-Kelly, Fiona, Carreño, Ester, Jimenez-Rolando, Belen, Lopez-Rodriguez, Rosario, Lorda-Sanchez, Isabel, Martin-Merida, Inmaculada, Pérez de Ayala, Lucia, Riveiro-Alvarez, Rosa, Rodriguez-Pinilla, Elvira, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria J., Garcia-Sandoval, Blanca, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Ayuso, Carmen

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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications by Perea-Romero, Irene, Gordo, Gema, Iancu, Ionut F., Del Pozo-Valero, Marta, Almoguera, Berta, Blanco-Kelly, Fiona, Carreño, Ester, Jimenez-Rolando, Belen, Lopez-Rodriguez, Rosario, Lorda-Sanchez, Isabel, Martin-Merida, Inmaculada, Pérez de Ayala, Lucia, Riveiro-Alvarez, Rosa, Rodriguez-Pinilla, Elvira, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria J., Garcia-Sandoval, Blanca, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Ayuso, Carmen

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