Rett syndrome in Spain: mutation analysis and clinical correlations
Monrós, Eugènia, Armstrong, Judith, Aibar, Elena, Poo, Pilar, Canós, Ignacio, Pineda, Mercè
Published in Brain & development (Tokyo. 1979) (01.12.2001)
Published in Brain & development (Tokyo. 1979) (01.12.2001)
Get full text
Journal Article
Conference Proceeding
Phenotype Correlation and Intergenerational Dynamics of the Friedreich Ataxia GAA Trinucleotide Repeat
Monrós, Eugènia, Moltó, Maria Dolores, Martínez, Francisco, Canizares, Joaqún, Blanca, Jose, Vílchez, Juan J., Prieto, Felix, Frutos, Rosa de, Palau, Francesc
Published in American journal of human genetics (01.07.1997)
Published in American journal of human genetics (01.07.1997)
Get full text
Journal Article
Classic rett syndrome in a boy as a result of somatic mosaicism for a mecp2 mutation
Armstrong, Judith, Póo, Pilar, Pineda, Mercè, Aibar, Elena, Geán, Esther, Català, Vicenç, Monrós, Eugènia
Published in Annals of neurology (01.11.2001)
Published in Annals of neurology (01.11.2001)
Get full text
Journal Article
The tumour necrosis factor (TNF)-α−308GA promoter polymorphism is related to prenatal growth and postnatal insulin resistance
Casano-Sancho, Paula, López-Bermejo, Abel, Fernández-Real, José Manuel, Monrós, Eugènia, Valls, Carme, Rodríguez-González, Francesc-Xavier, Ricart, Wifredo, Ibáñez, Lourdes
Published in Clinical endocrinology (Oxford) (01.02.2006)
Published in Clinical endocrinology (Oxford) (01.02.2006)
Get full text
Journal Article
Children With Stroke: Polymorphism of the MTHFR Gene, Mild Hyperhomocysteinemia, and Vitamin Status
Cardo, Esther, Monrós, Eugènia, Colomé, Catrina, Artuch, Rafael, Campistol, Jaume, Pineda, Mercè, Vilaseca, M. Antònia
Published in Journal of child neurology (01.05.2000)
Published in Journal of child neurology (01.05.2000)
Get full text
Journal Article
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
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
Published in Science (American Association for the Advancement of Science) (08.03.1996)
Published in Science (American Association for the Advancement of Science) (08.03.1996)
Get full text
Journal Article
The tumour necrosis factor (TNF)-[alpha] -308GA promoter polymorphism is related to prenatal growth and postnatal insulin resistance
Casano-Sancho, Paula, López-Bermejo, Abel, Fernández-Real, José Manuel, Monrós, Eugènia
Published in Clinical endocrinology (Oxford) (01.02.2006)
Get full text
Published in Clinical endocrinology (Oxford) (01.02.2006)
Journal Article
The tumour necrosis factor (TNF)-alpha-308GA promoter polymorphism is related to prenatal growth and postnatal insulin resistance
Casano-Sancho, Paula, López-Bermejo, Abel, Fernández-Real, José Manuel, Monrós, Eugènia, Valls, Carme, Rodríguez-González, Francesc-Xavier, Ricart, Wifredo, Ibáñez, Lourdes
Published in Clinical endocrinology (Oxford) (01.02.2006)
Published in Clinical endocrinology (Oxford) (01.02.2006)
Get full text
Journal Article
Anti-Epileptic drug treatment in children: Hyperhomocysteinaemia, B-Vitamins and the 677C→T Mutation of the Methylenetetrahydrofolate Reductase Gene
Vilaseca, M Antònia, Monrós, Eugènia, Artuch, Rafael, Colomé, Catrina, Farré, Carme, Valls, Carme, Cardo, Esther, Pineda, Mercè
Published in European journal of paediatric neurology (2000)
Published in European journal of paediatric neurology (2000)
Get full text
Journal Article
Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM
Okamoto, Nobuhiko, Del Maestro, Rolando, Valero, Rebeca, Monros, Eugenia, Poo, Pilar, Kanemura, Yonehiro, Yamasaki, Mami
Published in Journal of human genetics (01.06.2004)
Published in Journal of human genetics (01.06.2004)
Get full text
Journal Article
Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients
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
Published in Human genetics (01.01.2000)
Published in Human genetics (01.01.2000)
Get full text
Journal Article
Independent mutational events are rare in the ATM gene: Haplotype prescreening enhances mutation detection rate
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.
Published in Human mutation (01.07.2003)
Published in Human mutation (01.07.2003)
Get full text
Journal Article
News and comment
Armstrong, Judith, Póo, Pilar, Pineda, Mercè, Aibar, Elena, Geán, Esther, Català, V, Vicenç, Monrós, Eugènia
Published in Annals of neurology (01.11.2001)
Get full text
Published in Annals of neurology (01.11.2001)
Journal Article
News and comment
Armstrong, Judith, Póo, Pilar, Pineda, Mercè, Aibar, Elena, Geán, Esther, Català, Vicenç, Monrós, Eugènia
Published in Annals of neurology (01.11.2001)
Get full text
Published in Annals of neurology (01.11.2001)
Journal Article
A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus
Smeyers, P, Monrós, E, Vílchez, J, Lopez-Arlandis, J, Prieto, F, Palau, F
Published in Human genetics (01.06.1996)
Published in Human genetics (01.06.1996)
Get more information
Journal Article
Mapping of Friedreich's ataxia locus by identification of recombination events in patients homozygous by descent
Monrós, E, Smeyers, P, Rodius, F, Cañizares, J, Moltó, M D, Vilchez, J J, Pandolfo, M, Lopez-Arlandis, J, de Frutos, R, Prieto, F
Published in European journal of human genetics : EJHG (1994)
Published in European journal of human genetics : EJHG (1994)
Get full text
Journal Article
dfh is a Drosophila homolog of the Friedreich's ataxia disease gene
Cañizares, Joaquı́n, Blanca, José M, Navarro, Juan A, Monrós, Eugenia, Palau, Francisco, Moltó, Marı́a D
Published in Gene (03.10.2000)
Published in Gene (03.10.2000)
Get full text
Journal Article