PUBLICACIONS: Articles
• Monrós, E. and Junyent, A. (2107). Integration of genetic and reproductive
counseling with psichotherapy:
Considerations trough a case. Revista de Psicoterapia, Vol. 28 (108), 189-207
• 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
PUBLICACIONS: Capítols de llibre
• 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