Severe and moderate hemophilia A: identification of 38 new genetic alterations von Casana, Pilar, Cabrera, Noelia, Cid, Ana Rosa, Haya, Saturnino, Beneyto, Magdalena, Espinos, Carmen, Cortina, Vicente, Dasi, Maria Angeles, Aznar, Jose Antonio

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A Common Ancestral Origin of the Frequent and Widespread 2299delG USH2A Mutation von Dreyer, Bo, Tranebjærg, Lisbeth, Brox, Vigdis, Rosenberg, Thomas, Möller, Claes, Beneyto, Magdalena, Weston, Michael D., Kimberling, William J., Nilssen, Øivind

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Microarray-Based Mutation Analysis of 183 Spanish Families with Usher Syndrome von Jaijo, Teresa, Aller, Elena, Garcia-Garcia, Gema, Aparisi, Maria J, Bernal, Sara, Avila-Fernandez, Almudena, Barragan, Isabel, Baiget, Montserrat, Ayuso, Carmen, Antinolo, Guillermo, Diaz-LLopis, Manuel, Kulm, Maigi, Beneyto, Magdalena, Najera, Carmen, Millan, Jose M

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Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway von Ejarque, Ismael, Millán-Salvador, José M, Oltra, Silvestre, Pesudo-Martínez, José V, Beneyto, Magdalena, Pérez-Aytés, Antonio

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Mutations in the Pre-mRNA Splicing-Factor Genes PRPF3, PRPF8, and PRPF31 in Spanish Families with Autosomal Dominant Retinitis Pigmentosa von Martinez-Gimeno, Maria, Gamundi, Maria Jose, Hernan, Imma, Maseras, Miquel, Milla, Elena, Ayuso, Carmen, Garcia-Sandoval, Blanca, Beneyto, Magdalena, Vilela, Concha, Baiget, Montserrat, Antinolo, Guillermo, Carballo, Miguel

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Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma von Sánchez-Sánchez, Francisco, Ramírez-Castillejo, Carmen, Weekes, Daniel B., Beneyto, Magdalena, Prieto, Félix, Nájera, Carmen, Mittnacht, Sibylle

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Mutations in Myosin VIIA (MYO7A) and Usherin (USH2A) in Spanish patients with usher syndrome types I and II, respectively von Nájera, Carmen, Beneyto, Magdalena, Blanca, José, Aller, Elena, Fontcuberta, Ana, Millán, José María, Ayuso, Carmen

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Genetic analysis of 2299delG and C759F mutations ( A) in patients with visual and or auditory impairments von ALLER, Elena, NAJERA, Carmen, MILLAN, José Ma, OLTRA, Juan S, PEREZ-GARRIGUES, Herminio, VILELA, Concepcion, NAVEA, Amparo, BENEYTO, Magdalena

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Retinoblastoma: implicaciones del estudio genético-molecular von Nájera, Carmen, Beneyto, Magdalena

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Malformación de Arnold-Chiari en el síndrome de Noonan y otros síndromes de la vía RAS/MAPK von Ejarque, Ismael, Millán Salvador, José María, Oltra, Silvestre, Pesudo Martínez, José Vicente, Beneyto, Magdalena, Pérez Aytés, Antonio

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Usher syndrome: an example of genetic heterogeneity von Nájera, Carmen, Beneyto, Magdalena, Millán, José M

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Screening of the USH1G Gene among Spanish Patients with Usher Syndrome. Lack of Mutations and Evidence of a Minor Role in the Pathogenesis of the Syndrome von Aller, Elena, Jaijo, Teresa, Beneyto, Magdalena, Nájera, Carmen, Morera, Constantino, Pérez-Garrigues, Herminio, Ayuso, Carmen, Millán, Jose

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Mutations in Myosin VIIA ( MYO7A ) and Usherin ( USH2A ) in Spanish patients with usher syndrome types I and II, respectively: MUTATIONS IN BRIEF von Nájera, Carmen, Beneyto, Magdalena, Blanca, José, Aller, Elena, Fontcuberta, Ana, Millán, José María, Ayuso, Carmen

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El síndrome de Usher: un ejemplo de heterogeneidad genética von Nájera, Carmen, Beneyto, Magdalena, Millán, José M.

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Retinoblastoma: genetic and molecular implications von Nájera, Carmen, Beneyto, Magdalena

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Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa von Miano, M G, Testa, F, Strazzullo, M, Trujillo, M, De Bernardo, C, Grammatico, B, Simonelli, F, Mangino, M, Torrente, I, Ruberto, G, Beneyto, M, Antinolo, G, Rinaldi, E, Danesino, C, Ventruto, V, D'Urso, M, Ayuso, C, Baiget, M, Ciccodicola, A

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A constitutional homozygous mutation in theRB1 gene in a patient with unilateral retinoblastoma von SÁNCHEZ, FRANCISCO, MATEU, EMILIA, BENEYTO, MAGDALENA, NÁJERA, CARMEN, PRIETO, FÉLIX

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Linkage analysis in Usher syndrome type I (USH1) families from Spain von Espinós, C, Nájera, C, Millán, J M, Ayuso, C, Baiget, M, Pérez-Garrigues, H, Rodrigo, O, Vilela, C, Beneyto, M

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Screening for FMR1 mutations among the mentally retarded: prevalence of the fragile X syndrome in Spain von Millán, José M., Martínez, Francisco, Cadroy, Ana, Gandía, Jesús, Casquero, Mercedes, Beneyto, Magdalena, Badía, Lourdes, Prieto, Félix

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Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa von Grüning, Gunnar, Millan, José M., Meins, Moritz, Beneyto, Magdalena, Caballero, Manuel, Apfelstedt-Sylla, Eckart, Bosch, Rosabel, Zrenner, Eberhart, Prieto, Felix, Gal, Andreas

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