Robledo M - Search Results

1

Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.

Cascón A, Comino-Méndez I, Currás-Freixes M, de Cubas AA, Contreras L, Richter S, Peitzsch M, Mancikova V, Inglada-Pérez L, Pérez-Barrios A, Calatayud M, Azriel S, Villar-Vicente R, Aller J, Setién F, Moran S, Garcia JF, Río-Machín A, Letón R, Gómez-Graña Á, Apellániz-Ruiz M, Roncador G, Esteller M, Rodríguez-Antona C, Satrústegui J, Eisenhofer G, Urioste M, Robledo M. Cascón A, et al. Among authors: robledo m. J Natl Cancer Inst. 2015 Mar 11;107(5):djv053. doi: 10.1093/jnci/djv053. J Natl Cancer Inst. 2015. PMID: 25766404

2

Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families.

Osorio A, Barroso A, Martínez B, Cebrián A, San Román JM, Lobo F, Robledo M, Benítez J. Osorio A, et al. Among authors: robledo m. Br J Cancer. 2000 Apr;82(7):1266-70. doi: 10.1054/bjoc.1999.1089. Br J Cancer. 2000. PMID: 10755399 Free PMC article.

3

Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.

Cascon A, Ruiz-Llorente S, Cebrian A, Telleria D, Rivero JC, Diez JJ, Lopez-Ibarra PJ, Jaunsolo MA, Benitez J, Robledo M. Cascon A, et al. Among authors: robledo m. Eur J Hum Genet. 2002 Aug;10(8):457-61. doi: 10.1038/sj.ejhg.5200829. Eur J Hum Genet. 2002. PMID: 12111639

4

A rapid and easy method for multiple endocrine neoplasia type 1 mutation detection using conformation-sensitive gel electrophoresis.

Arancha C, Ruíz-Llorente S, Cascón A, Osorio A, Martínez-Delgado B, Benítez J, Robledo M. Arancha C, et al. Among authors: robledo m. J Hum Genet. 2002;47(4):190-5. doi: 10.1007/s100380200022. J Hum Genet. 2002. PMID: 12166655

5

SDHB mutation analysis in familial and sporadic phaeochromocytoma identifies a novel mutation.

Cascón A, Cebrián A, Ruiz-Llorente S, Tellería D, Benítez J, Robledo M. Cascón A, et al. Among authors: robledo m. J Med Genet. 2002 Oct;39(10):E64. doi: 10.1136/jmg.39.10.e64. J Med Genet. 2002. PMID: 12362046 Free PMC article. No abstract available.

6

Complex cytogenetic abnormalities including telomeric associations and MEN1 mutation in a pediatric ependymoma.

Urioste M, Martínez-Ramírez A, Cigudosa JC, Colmenero I, Madero L, Robledo M, Martínez-Delgado B, Benítez J. Urioste M, et al. Among authors: robledo m. Cancer Genet Cytogenet. 2002 Oct 15;138(2):107-10. doi: 10.1016/s0165-4608(01)00532-5. Cancer Genet Cytogenet. 2002. PMID: 12505253

7

Molecular study of a new family with hereditary renal cell carcinoma and a translocation t(3;8)(p13;q24.1).

Meléndez B, Rodríguez-Perales S, Martínez-Delgado B, Otero I, Robledo M, Martínez-Ramírez A, Ruiz-Llorente S, Urioste M, Cigudosa JC, Benítez J. Meléndez B, et al. Among authors: robledo m. Hum Genet. 2003 Feb;112(2):178-85. doi: 10.1007/s00439-002-0848-6. Epub 2002 Nov 13. Hum Genet. 2003. PMID: 12522559

8

G12S and H50R variations are polymorphisms in the SDHD gene.

Cascón A, Ruiz-Llorente S, Cebrián A, Letón R, Tellería D, Benítez J, Robledo M. Cascón A, et al. Among authors: robledo m. Genes Chromosomes Cancer. 2003 Jun;37(2):220-1. doi: 10.1002/gcc.10212. Genes Chromosomes Cancer. 2003. PMID: 12696072 No abstract available.

9

Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients.

Cebrián A, Ruiz-Llorente S, Cascón A, Pollán M, Díez JJ, Picó A, Tellería D, Benítez J, Robledo M. Cebrián A, et al. Among authors: robledo m. J Med Genet. 2003 May;40(5):e72. doi: 10.1136/jmg.40.5.e72. J Med Genet. 2003. PMID: 12746426 Free PMC article. No abstract available.

10

Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations.

Ruiz-Llorente S, Bravo J, Cebrián A, Cascón A, Pollan M, Tellería D, Letón R, Urioste M, Rodríguez-López R, de Campos JM, Muñoz MJ, Lacambra C, Benítez J, Robledo M. Ruiz-Llorente S, et al. Among authors: robledo m. Hum Mutat. 2004 Feb;23(2):160-169. doi: 10.1002/humu.10309. Hum Mutat. 2004. PMID: 14722919

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