Robledo M - Search Results

1

Novel DNMT3A Germline Variant in a Patient with Multiple Paragangliomas and Papillary Thyroid Carcinoma.

Mellid S, Coloma J, Calsina B, Monteagudo M, Roldán-Romero JM, Santos M, Leandro-García LJ, Lanillos J, Martínez-Montes ÁM, Rodríguez-Antona C, Montero-Conde C, Martínez-López J, Ayala R, Matias-Guiu X, Robledo M, Cascón A. Mellid S, et al. Among authors: robledo m. Cancers (Basel). 2020 Nov 9;12(11):3304. doi: 10.3390/cancers12113304. Cancers (Basel). 2020. PMID: 33182397 Free PMC article.

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

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.

6

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

7

A novel candidate region linked to development of both pheochromocytoma and head/neck paraganglioma.

Cascón A, Ruiz-Llorente S, Rodríguez-Perales S, Honrado E, Martínez-Ramírez A, Letón R, Montero-Conde C, Benítez J, Dopazo J, Cigudosa JC, Robledo M. Cascón A, et al. Among authors: robledo m. Genes Chromosomes Cancer. 2005 Mar;42(3):260-8. doi: 10.1002/gcc.20139. Genes Chromosomes Cancer. 2005. PMID: 15609347

8

Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinoma.

Cascon A, Cebrian A, Pollan M, Ruiz-Llorente S, Montero-Conde C, Leton R, Gutierrez R, Lesueur F, Milne RL, Gonzalez-Albarran O, Lucas-Morante T, Benitez J, Ponder BA, Robledo M. Cascon A, et al. Among authors: robledo m. J Clin Endocrinol Metab. 2005 Apr;90(4):2127-30. doi: 10.1210/jc.2004-2059. Epub 2004 Dec 28. J Clin Endocrinol Metab. 2005. PMID: 15623805

9

About the origin and development of hereditary conventional renal cell carcinoma in a four-generation t(3;8)(p14.1;q24.23) family.

Valle L, Cascón A, Melchor L, Otero I, Rodríguez-Perales S, Sánchez L, Cruz Cigudosa J, Robledo M, Weber B, Urioste M, Benítez J. Valle L, et al. Among authors: robledo m. Eur J Hum Genet. 2005 May;13(5):570-8. doi: 10.1038/sj.ejhg.5201371. Eur J Hum Genet. 2005. PMID: 15756303

10

Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?

Cascón A, Montero-Conde C, Ruiz-Llorente S, Mercadillo F, Letón R, Rodríguez-Antona C, Martínez-Delgado B, Delgado M, Díez A, Rovira A, Díaz JA, Robledo M. Cascón A, et al. Among authors: robledo m. Genes Chromosomes Cancer. 2006 Mar;45(3):213-9. doi: 10.1002/gcc.20283. Genes Chromosomes Cancer. 2006. PMID: 16258955

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