Robledo M - Search Results

1

Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.

Comino-Méndez I, de Cubas AA, Bernal C, Álvarez-Escolá C, Sánchez-Malo C, Ramírez-Tortosa CL, Pedrinaci S, Rapizzi E, Ercolino T, Bernini G, Bacca A, Letón R, Pita G, Alonso MR, Leandro-García LJ, Gómez-Graña A, Inglada-Pérez L, Mancikova V, Rodríguez-Antona C, Mannelli M, Robledo M, Cascón A. Comino-Méndez I, et al. Among authors: robledo m. Hum Mol Genet. 2013 Jun 1;22(11):2169-76. doi: 10.1093/hmg/ddt069. Epub 2013 Feb 14. Hum Mol Genet. 2013. PMID: 23418310

2

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

3

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

4

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.

5

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

6

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.

7

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.

8

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

9

Genetic and epigenetic profile of sporadic pheochromocytomas.

Cascon A, Ruiz-Llorente S, Fraga MF, Leton R, Telleria D, Sastre J, Diez JJ, Martinez Diaz-Guerra G, Diaz Perez JA, Benitez J, Esteller M, Robledo M. Cascon A, et al. Among authors: robledo m. J Med Genet. 2004 Mar;41(3):e30. doi: 10.1136/jmg.2003.012658. J Med Genet. 2004. PMID: 14985401 Free PMC article. No abstract available.

10

Expression profiling of T-cell lymphomas differentiates peripheral and lymphoblastic lymphomas and defines survival related genes.

Martinez-Delgado B, Meléndez B, Cuadros M, Alvarez J, Castrillo JM, Ruiz De La Parte A, Mollejo M, Bellas C, Diaz R, Lombardía L, Al-Shahrour F, Domínguez O, Cascon A, Robledo M, Rivas C, Benitez J. Martinez-Delgado B, et al. Among authors: robledo m. Clin Cancer Res. 2004 Aug 1;10(15):4971-82. doi: 10.1158/1078-0432.CCR-04-0269. Clin Cancer Res. 2004. PMID: 15297397

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