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Items: 28

1.

Prioritization of therapy uncertainties in Dystrophic Epidermolysis Bullosa: where should research direct to? an example of priority setting partnership in very rare disorders.

Davila-Seijo P, Hernández-Martín A, Morcillo-Makow E, de Lucas R, Domínguez E, Romero N, Monrós E, Feito M, Carretero L, Aranegui B, García-Doval I.

Orphanet J Rare Dis. 2013 Apr 22;8:61. doi: 10.1186/1750-1172-8-61.

2.

The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients.

Della Ragione F, Tiunova A, Vacca M, Strazzullo M, González E, Armstrong J, Valero R, Campanile C, Pineda M, Hulten M, Monros E, D'Esposito M, Prokhortchouk E.

Gene. 2006 May 24;373:83-9. Epub 2006 Mar 13.

PMID:
16530985
3.

The tumour necrosis factor (TNF)-alpha-308GA promoter polymorphism is related to prenatal growth and postnatal insulin resistance.

Casano-Sancho P, López-Bermejo A, Fernández-Real JM, Monrós E, Valls C, Rodríguez-González FX, Ricart W, Ibáñez L.

Clin Endocrinol (Oxf). 2006 Feb;64(2):129-35.

PMID:
16430709
4.

Multiple mutation analysis of the cystic fibrosis gene in single cells.

Sánchez-García JF, Benet J, Gutiérrez-Mateo C, Luís Séculi J, Monrós E, Navarro J.

Mol Hum Reprod. 2005 Jun;11(6):463-8. Epub 2005 May 20.

PMID:
15908456
5.

The impact of MECP2 mutations in the expression patterns of Rett syndrome patients.

Ballestar E, Ropero S, Alaminos M, Armstrong J, Setien F, Agrelo R, Fraga MF, Herranz M, Avila S, Pineda M, Monros E, Esteller M.

Hum Genet. 2005 Jan;116(1-2):91-104. Epub 2004 Nov 11.

PMID:
15549394
6.

Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.

Okamoto N, Del Maestro R, Valero R, Monros E, Poo P, Kanemura Y, Yamasaki M.

J Hum Genet. 2004;49(6):334-7. Epub 2004 May 18.

PMID:
15148591
7.

Cerebrospinal fluid concentrations of idebenone in Friedreich ataxia patients.

Artuch R, Aracil A, Mas A, Monrós E, Vilaseca MA, Pineda M.

Neuropediatrics. 2004 Apr;35(2):95-8.

PMID:
15127307
8.

Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.

Mitui M, Campbell C, Coutinho G, Sun X, Lai CH, Thorstenson Y, Castellvi-Bel S, Fernandez L, Monros E, Carvalho BT, Porras O, Fontan G, Gatti RA.

Hum Mutat. 2003 Jul;22(1):43-50.

PMID:
12815592
9.

[Angelman syndrome: physical characteristics and behavioural phenotype in 37 patients with confirmed genetic diagnosis].

Galván-Manso M, Campistol J, Monros E, Póo P, Vernet AM, Pineda M, Sans A, Colomer J, Conill JJ, Sanmartí FX.

Rev Neurol. 2002 Sep 1-15;35(5):425-9. Spanish.

10.

Friedreich's ataxia: idebenone treatment in early stage patients.

Artuch R, Aracil A, Mas A, Colomé C, Rissech M, Monrós E, Pineda M.

Neuropediatrics. 2002 Aug;33(4):190-3.

PMID:
12368988
11.

Prenatal diagnosis in Rett syndrome.

Armstrong J, Aibar E, Pineda M, Pérez MM, Geán E, Carrera M, Casas C, Martínez F, Monrós E.

Fetal Diagn Ther. 2002 Jul-Aug;17(4):200-4.

PMID:
12065946
12.

News and comment.

Armstrong J, Póo P, Pineda M, Aibar E, Geán E, Català V V, Monrós E.

Ann Neurol. 2001 Nov;50(5):696. No abstract available.

PMID:
11857656
13.

Rett syndrome in Spain: mutation analysis and clinical correlations.

Monrós E, Armstrong J, Aibar E, Poo P, Canós I, Pineda M.

Brain Dev. 2001 Dec;23 Suppl 1:S251-3.

PMID:
11738885
14.

Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation.

Armstrong J, Pineda M, Aibar E, Geán E, Monrós E.

Ann Neurol. 2001 Nov;50(5):692. No abstract available.

PMID:
11706982
15.

Anti-epileptic drug treatment in children: hyperhomocysteinaemia, B-vitamins and the 677C-->T mutation of the methylenetetrahydrofolate reductase gene.

Vilaseca MA, Monrós E, Artuch R, Colomé C, Farré C, Valls C, Cardo E, Pineda M.

Eur J Paediatr Neurol. 2000;4(6):269-77.

PMID:
11277368
16.

dfh is a Drosophila homolog of the Friedreich's ataxia disease gene.

Cañizares J, Blanca JM, Navarro JA, Monrós E, Palau F, Moltó MD.

Gene. 2000 Oct 3;256(1-2):35-42.

PMID:
11054533
17.

Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.

De Castro M, García-Planells J, Monrós E, Cañizares J, Vázquez-Manrique R, Vílchez JJ, Urtasun M, Lucas M, Navarro G, Izquierdo G, Moltó MD, Palau F.

Hum Genet. 2000 Jan;106(1):86-92.

PMID:
10982187
18.

Mutation analysis of 16S rRNA in patients with Rett syndrome.

Armstrong J, Pineda M, Monrós E.

Pediatr Neurol. 2000 Jul;23(1):85-7.

PMID:
10963979
19.

Children with stroke: polymorphism of the MTHFR gene, mild hyperhomocysteinemia, and vitamin status.

Cardo E, Monrós E, Colomé C, Artuch R, Campistol J, Pineda M, Vilaseca MA.

J Child Neurol. 2000 May;15(5):295-8.

PMID:
10830195
20.

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat.

Monrós E, Moltó MD, Martínez F, Cañizares J, Blanca J, Vílchez JJ, Prieto F, de Frutos R, Palau F.

Am J Hum Genet. 1997 Jul;61(1):101-10.

21.

Study of a trimeric tandem repeat locus (SBMA) in the Basque population: comparison with other populations.

Arrieta MI, Martinez B, Millan JM, Gil A, Monros E, Nuñez T, Telez M, Martinez F.

Gene Geogr. 1997 Apr;11(1):61-72.

PMID:
9615216
22.

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.

Hum Genet. 1996 Jun;97(6):824-8.

PMID:
8641704
23.

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M.

Science. 1996 Mar 8;271(5254):1423-7.

PMID:
8596916
24.

Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population.

Monrós E, Cañizares J, Moltó MD, Rodius F, Montermini L, Cossée M, Martínez F, Prieto F, de Frutos R, Koenig M, Pandolfo M, Bertranpetit J, Palau F.

Eur J Hum Genet. 1996;4(4):191-8.

PMID:
8875184
25.

Prenatal diagnosis of Friedreich ataxia: improved accuracy by using new genetic flanking markers.

Monros E, Smeyers P, Ramos MA, Prieto F, Palau F.

Prenat Diagn. 1995 Jun;15(6):551-4.

PMID:
7659688
26.

Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q.

Palau F, De Michele G, Vilchez JJ, Pandolfo M, Monrós E, Cocozza S, Smeyers P, Lopez-Arlandis J, Campanella G, Di Donato S, et al.

Ann Neurol. 1995 Mar;37(3):359-62.

PMID:
7695235
27.

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 MD, Vilchez JJ, Pandolfo M, Lopez-Arlandis J, de Frutos R, Prieto F, et al.

Eur J Hum Genet. 1994;2(4):291-9.

PMID:
7704559
28.

Genetic diagnosis of Friedreich's ataxia.

Palau F, Monros E, Prieto F, Vilchez JJ, Lopez-Arlandis JM.

Lancet. 1991 Oct 26;338(8774):1087. No abstract available.

PMID:
1681394

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