PUBLICACIONES: Artículos

Monrós, E. y Junyent, A. (2106). Integración del asesoramiento genético y reproductivo con la psicoterapia: Reflexiones a través de un caso. Revista de Psicoterapia, 27 (104), 181-202

F Palau, E Monrós, F Prieto, J Vílchez, JM López-Arlandis. Genetic diagnosis of Friedreich's ataxia. Lancet 2:1087, 1991

F Palau, E Monrós, F Prieto. Diagnóstico genético prenatal de la ataxia de Friedreich. Prog Diag Pren 3:193-198, 1991

S Chamberlain, M Farrall, J Shaw, D Wilkes, J Carvajal, R Hillerman, K Doudney, AE Harding, R Williamson, G Sirugo, R Fujita, M Koenig, JL Mandel, F Palau, E Monrós, et al. Genetic recombination events which position the Friedreich's ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q. Am J Hum Genet 52:99-109, 1993. IS – 0002-9297

E Monrós, P Smeyers, F Rodius, J Cañizares, MD Moltó, J Vílchez, J López-Arlandis, M Pandolfo, R de Frutos, F Prieto, M Koenig, F Palau. Mapping of Friedreich ataxia locus by identification of recombinant events in patients homozygous by descent. Eur J Hum Genet 2:291-299, 1994

E Monrós, P Smeyers, MA Ramos, F Prieto, F Palau. Prenatal diagnosis of Friedreich ataxia: improved accuracy by using new genetic flanking markers. Pren Diagn 15:551-554, 1995. IS - 0197-3851

F Palau, G de Michele, M Pandolfo, E Monrós, S Cocozza, P Smeyers, J López-Arlandis, G Campanella, S Di Donato, J Vílchez, A Filla. Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich ataxia locus on chromosome 9q. Ann Neurol 37:359-362, 1995. IS - 0364-5134

E Monrós and F Palau. Reply to the letter Detection of Homozygosity by Descent, by JF Foncin. et al. Eur J Hum Genet 3:203-205, 1995. IS – 1018-4813

V Campuzano, L Montermini, MD Moltó, l Pianese, M Cossié, F Cavalcanti, E. Monrós, F Rodius, F Duclos, A Monticelli, F Zara, J Cañizares, H Koutnikova, S Bidichandani, C Gerella, A Brice, P Trouillas, G De Michele, A Filla, R de Frutos, F Palau, P Patel, S Di Donato, JL Mandel, S Cocozza, M Koenig, M Pandolfo. Friedreich ataxia: autosomal recessive disease caused by an introni GAA triplet expansion. Science 271:1423-1427, 1996. IS - 0036-8075

P Smeyers, E Monrós, J Vílchez, J López-Arlandis, F Prieto, F Palau. A family segregating Friedreich ataxia phenotype is not linked to the FRDA locus. Hum Genet 97: 824-828, 1996. IS - 0340-6717

E Monrós, J Cañizares, MD Moltó, F Rodius, L Montermini, M Cossée, F Martínez, Prieto, R de Frutos, M Koenig, M Pandolfo, J Bertranpetit, F Palau. Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population. Eur J Hum Genet  4:191-198, 1996. IS - 1018-4813

E. Monrós. Estudi genètic de l’atàxia de Friedreich: cartografiat fi dellocus FRDA i anàlisi de mutacions del gen X25. Resums de Tesis Doctorals 17, Universitat de València, Servei de Publicacions 1995-1996

E Monrós, MD Moltó, F. Martínez, J Cañizares, J Blanca, JJ Vílchez, F Prieto, R de Frutos and F Palau. Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide expansion. Am J Hum Genet 61:101-110, 1997. IS - 0002-9297

MI Arrieta, B Martínez, JM Millán, A Gil, E Monrós, T Núñez, M Telez, F Martínez.
Study of a trimeric tandem repeat locus (SBMA) in the Basque population: Comparison with other populations. Gene Geography 11:61-72, 1997. IS - 0394-249X

E Cardo, E Monros, C Colomé, R Artuch, J Campistol, M Pineda, MA Vilaseca. Children with Stroke: polymorphism of the MTHFR gene, mild hyperhomocysteinemia and vitamin status. J Child Neurol 15:295-298, 2000 (Special Article). IS - 0883-0738

T Pàmpols, JA Arranz, R Artuch, M Baiget, F Borja, P Briones, T Casals, A Chabás, MJ Coll, E del Río, C Domínguez, X Estivill, P Gallano, M Girós, M Martínez, A Maya, M Mila, E Margarit, L Martorell, E Monrós, et al. Errors congènits del metabolisme (ECM) Ped Catalana 60:561-570, 2000-08-01

T Sakai, A Wakizaka, M Iriondo, E Monrós. Congenital central hypoventilation syndrome and the gene alteration of the RET. The Lung perspectives 8:212-217, 2000

M de Castro, J García-Planells, E Monrós, J Cañizares, R Vázquez-Manrique, JJ Vílchez, M urtasun, M Lucas, G Navarro, G Izquierdo. MD Moltó, F Palau Genotype/phenotype analysis of Friedreich ataxia compound heterozygous patients
Hum Genet 2000;106:86-92. IS - 0340-6717

J Armstrong, M Pineda, E Monrós. Mutation analysis of 16S RNA in patients with Rett syndrome. Ped Neurol 2000;23:85-87. IS - 0887-8994

MA Vilaseca, E Monrós, R Artuch, C Colomer, C Farre, C Valls, E Cardo, M Pineda
Anti-epileptic drug treatment in children: hyperhomocysteinemia, B-Vitamins and the 677C-T mutation of the metilenetetrahydrofolate reductase gene. Eur J  Paed Neurol 2000;4:269-277. IS - 1090-3798

J Cañizares, JM Blanca, JA Navarro, E Monrós, F Palau, MD Moltó. dfh is a Drosophila homolog of the Friedreich’s ataxia disease gene. Gene 2000;256:35-42. IS - 0378-1119

M. Pineda, J. Armstrong , E. Monros. Síndrome de Rett. Hallazgo del gen MECP2 como marcador genético. Arch Ped 2000;51:83-85

J Armstrong, P Póo, M Pineda,  E Aibar, E Geán,  V Català, E Monrós. Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. Ann Neurol 2001;5:692. IS - 0364-5134   

Armstrong J, Póo P, Pineda M, Aibar E, Gean E, Català V, Monrós E. News and comment. Ann Neurol 2001 Nov;50(5):696. PMID: 11857656

E. Monrós, J. Armstrong, E. Aibar, P Poo, I Canós, M. Pineda. Rett syndrome in Spain: mutation analysis and clinical correlations. Brain Develop 2001;23:S251-S253. IS  - 0387-7604

J. Armstrong, E. Aibar, M. Pineda, M.M. Pérez, E. Geán, M. Carrera, C. Casas, F. Martínez, E. Monrós. Prenatal diagnosis in Rett syndrome. Fetal Diagn Ther 2002;17:200-204. IS - 1015-3837

Artuch R, Aracil A, Mas A, Colomé C, Rissech M, Monrós E, Pineda M. Friedreich ataxia: idebenone treatment in early stage disease. Neuropediatrics, 2002;33:190-193. IS - 0174-304X

M Galvan-Manso, J Campistol, E Monros, P Poo, A Vernet, M Pineda, A Sans, J Colomer, J Conill, F Sanmartí. Síndrome de Angelman: características físicas y fenotipo conductual en 37 pacientes con diagnóstico genético confirmado. Rev Neurol 2002;35:425-429. IS - 0210-0010

M Mitsui, C Campbell, G Coutinho, X Sun, CH Lai, Y Thorstenson, S Castellvi-Bel, L Fernández, E Monrós, B Tavares, O Porras, G Fontan, RA Gatti. Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detectio rate. Hum Mutat 2003;22:43-50. IS - 1098-1004

R Artuch, A Aracil, A Mas, E Monrós, MA Vilaseca, M Pineda. (2003). Cerebrospinal fluid concentrations of Idebenone in Friedreich’s ataxia patients. Neuropediatrics 2004;35:95-98. IS - 0174-304X

Okamoto N, Del Maestro R, Valero R, Monros E, Poo P, Kanemura Y, Yamasaki M.
Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM. J Hum Genet 2004;49(6):334-7. IS  - 1434-5161

Ballestar E, Ropero S, Alaminos M, Armstrong J, Setien F, Agrelo R, Fraga MF, Herranz M, Avila S, Pineda M, Monros E and Esteller M. The impact of MECP2 mutations in the expression patterns of Rett syndrome patients. Hum Genet 2005;116:91-104

Sanchez-García JF, Benet J, Gutiérrez-Mateo C, Séculi JL, Monrós E, Navarro J. Multiple mutation analysis if the cystic fibrosis gene in single cells. Mol Hum Reprod 2005;64:129-135

P Casano-Sancho, A López-Bermejo, J M Fernández-Real, E Monrós, C Valls, F Rodríguez-González, W Ricart, L Ibáñez. The tumour necrosis factor (TNF)-α−308GA promoter polymorphism is related to prenatal growth and postnatal insulin resistance. Clinical Endocrinology 2006;64:129–135

Della Ragione F, Tiunova A, Vacca M, Strazzullo M, Gonzalez E, Armstrong J, Valero R, Campanile C, Pineda M, Hulten M, Monros E, D'Esposito M, Prokhortchouk E. The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients. Gene 2006:24;373:83-89

PUBLICACIONES: Capítulos de libro

F Palau, J López-Arlandis, E Monrós, J Vílchez, F Prieto. Genetics of Friedreich’s ataxia in the Spanish Population. Handbook of Cerebellar diseases, pp 459-462. R Lechtenberg ed, M Dekker Inc (New York, USA) 1993

Palau F, Monrós E.  Análisis genético de la ataxia de Friedreich en la población española. Ataxias y Paraplejias Hereditarias: Aspectos Clínicos y Genéticos, pp 145-152. J Berciano ed, Ediciones Ergon (Madrid, España) 1993

F Palau, E Monrós. Herencia Multifactorial. Tratado de Medicina Interna, J. Rodés et al. Eds., Editorial Médico-Científica, Barcelona, 1997. ISBN: 84-458-0609-2

F Martínez, E Monrós. Mutación dinámica y enfermedad: expansiones de trinucleótidos.  Tratado de Medicina Interna, J. Rodés et al. Eds., Editorial Médico-Científica, Barcelona, 1997. ISBN: 84-458-0609-2

Artículos de investigación