Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion von Campuzano, Victoria, Montermini, Laura, Moltò, Maria Dolores, Pianese, Luigi, Cossée, Mireille, Cavalcanti, Francesca, Monros, Eugenia, Rodius, François, Duclos, Franck, Monticelli, Antonella, Zara, Federico, Cañizares, Joaquin, Koutnikova, Hana, Bidichandani, Sanjay I., Gellera, Cinzia, Brice, Alexis, Trouillas, Paul, De Michele, Giuseppe, Filla, Alessandro, De Frutos, Rosa, Palau, Francisco, Patel, Pragna I., Di Donato, Stefano, Mandel, Jean-Louis, Cocozza, Sergio, Koenig, Michel, Pandolfo, Massimo

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Hydrocephalus and Hirschsprung’s disease with a mutation of L1CAM von Okamoto, Nobuhiko, Del Maestro, Rolando, Valero, Rebeca, Monros, Eugenia, Poo, Pilar, Kanemura, Yonehiro, Yamasaki, Mami

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Independent mutational events are rare in the ATM gene: Haplotype prescreening enhances mutation detection rate von Mitui, Midori, Campbell, Catarina, Coutinho, Gabriela, Sun, Xia, Lai, Chih-Hung, Thorstenson, Yvonne, Castellvi-Bel, Sergi, Fernandez, Luis, Monros, Eugenia, Tavares Costa Carvalho, Beatriz, Porras, Oscar, Fontan, Gumersindo, Gatti, Richard A.

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The impact of MECP2 mutations in the expression patterns of Rett syndrome patients von BALLESTAR, Esteban, ROPERO, Santiago, MONROS, Eugenia, ESTELLER, Manel, ALAMINOS, Miguel, ARMSTRONG, Judith, SETIEN, Fernando, AGRELO, Ruben, FRAGA, Mario F, HERRANZ, Michel, AVILA, Sonia, PINEDA, Mercedes

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Integration of Genetic and Reproductive Counseling with Psychotherapy: Considerations Through a Case von Monros, Eugenia, Junyent, Assumpta

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Rett syndrome in Spain: mutation analysis and clinical correlations von Monrós, Eugènia, Armstrong, Judith, Aibar, Elena, Poo, Pilar, Canós, Ignacio, Pineda, Mercè

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The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients von Della Ragione, Floriana, Tiunova, Anna, Vacca, Marcella, Strazzullo, Maria, González, Eva, Armstrong, Judith, Valero, Rebeca, Campanile, Ciro, Pineda, Mercè, Hulten, Maj, Monros, Eugenia, D'Esposito, Maurizio, Prokhortchouk, Egor

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Multiple mutation analysis of the cystic fibrosis gene in single cells von Sánchez-García, Jorge Fernando, Benet, Jordi, Gutiérrez-Mateo, Cristina, Luís Séculi, José, Monrós, Eugènia, Navarro, Joaquima

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Classic rett syndrome in a boy as a result of somatic mosaicism for a mecp2 mutation von Armstrong, Judith, Póo, Pilar, Pineda, Mercè, Aibar, Elena, Geán, Esther, Català, Vicenç, Monrós, Eugènia

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Children With Stroke: Polymorphism of the MTHFR Gene, Mild Hyperhomocysteinemia, and Vitamin Status von Cardo, Esther, Monrós, Eugènia, Colomé, Catrina, Artuch, Rafael, Campistol, Jaume, Pineda, Mercè, Vilaseca, M. Antònia

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Phenotype Correlation and Intergenerational Dynamics of the Friedreich Ataxia GAA Trinucleotide Repeat von Monrós, Eugènia, Moltó, Maria Dolores, Martínez, Francisco, Canizares, Joaqún, Blanca, Jose, Vílchez, Juan J., Prieto, Felix, Frutos, Rosa de, Palau, Francesc

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The tumour necrosis factor (TNF)-α−308GA promoter polymorphism is related to prenatal growth and postnatal insulin resistance von Casano-Sancho, Paula, López-Bermejo, Abel, Fernández-Real, José Manuel, Monrós, Eugènia, Valls, Carme, Rodríguez-González, Francesc-Xavier, Ricart, Wifredo, Ibáñez, Lourdes

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dfh is a Drosophila homolog of the Friedreich's ataxia disease gene von Cañizares, Joaquı́n, Blanca, José M, Navarro, Juan A, Monrós, Eugenia, Palau, Francisco, Moltó, Marı́a D

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Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q von CHAMBERLAIN, S, FARRALL, M, FUJITA, R, KOENIG, M, MANDEL, J.-L, PALAU, F, MONROS, E, VILCHEZ, J, PRIETO, F, RICHTER, A, VANASSE, M, MELANCON, S, SHAW, J, COCOZZA, S, REDOLFI, E, CAVALCANTI, F, PIANESE, L, FILLA, A, DIDONATO, S, PANDOLFO, M, WILKES, D, CARVAJAL, J, HILLERMAN, R, DOUDNEY, K, HARDING, A. E, WILLIAMSON, R, SIRUGO, G

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Genetic diagnosis of Friedreich's ataxia von Palau, Francisco, Monros, Eugenia, Prieto, Felix, Vilchez, JuanJ, Lopez-Arlandis, JoseM

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The tumour necrosis factor (TNF)-alpha-308GA promoter polymorphism is related to prenatal growth and postnatal insulin resistance von Casano-Sancho, Paula, López-Bermejo, Abel, Fernández-Real, José Manuel, Monrós, Eugènia, Valls, Carme, Rodríguez-González, Francesc-Xavier, Ricart, Wifredo, Ibáñez, Lourdes

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Síndrome de Angelman: características físicas y fenotipo conductual en 37 pacientes con diagnóstico genético confirmado von Galván Manso, Marta, Campistol Plana, Jaume, Monros Marin, Eugenia, Póo Argüelles, Pilar, Vernet Bori, Ana María, Pineda Marfà, Mercè, Sans Fitó, Anna, Colomer Oferil, Jaume, Conill Ramón, Juan José, Sanmartí Vilaplana, Francesc Xavier

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The tumour necrosis factor (TNF)-[alpha] -308GA promoter polymorphism is related to prenatal growth and postnatal insulin resistance von Casano-Sancho, Paula, López-Bermejo, Abel, Fernández-Real, José Manuel, Monrós, Eugènia

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Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients von DE CASTRO, M, GARCIA-PLANELLS, J, MOLTO, M. D, PALAU, F, MONROS, E, CANIZARES, J, VAZQUEZ-MANRIQUE, R, VILCHEZ, J. J, URTASUN, M, LUCAS, M, NAVARRO, G, IZQUIERDO, G

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Anti-Epileptic drug treatment in children: Hyperhomocysteinaemia, B-Vitamins and the 677C→T Mutation of the Methylenetetrahydrofolate Reductase Gene von Vilaseca, M Antònia, Monrós, Eugènia, Artuch, Rafael, Colomé, Catrina, Farré, Carme, Valls, Carme, Cardo, Esther, Pineda, Mercè

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