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Page 1
Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas.
Remacha L, Pirman D, Mahoney CE, Coloma J, Calsina B, Currás-Freixes M, Letón R, Torres-Pérez R, Richter S, Pita G, Herráez B, Cianchetta G, Honrado E, Maestre L, Urioste M, Aller J, García-Uriarte Ó, Gálvez MÁ, Luque RM, Lahera M, Moreno-Rengel C, Eisenhofer G, Montero-Conde C, Rodríguez-Antona C, Llorca Ó, Smolen GA, Robledo M, Cascón A. Remacha L, et al. Among authors: cascon a. Am J Hum Genet. 2019 May 2;104(5):1008-1010. doi: 10.1016/j.ajhg.2019.04.010. Am J Hum Genet. 2019. PMID: 31051110 Free PMC article. No abstract available.
Molecular characterisation of a common SDHB deletion in paraganglioma patients.
Cascón A, Landa I, López-Jiménez E, Díez-Hernández A, Buchta M, Montero-Conde C, Leskelä S, Leandro-García LJ, Letón R, Rodríguez-Antona C, Eng C, Neumann HP, Robledo M. Cascón A, et al. J Med Genet. 2008 Apr;45(4):233-8. doi: 10.1136/jmg.2007.054965. Epub 2007 Dec 5. J Med Genet. 2008. PMID: 18057081
Determination of CYP2D6 gene copy number by multiplex polymerase chain reaction analysis.
Leandro-García LJ, Leskelä S, Montero-Conde C, Landa I, López-Jimenez E, Letón R, Seeringer A, Kirchheiner J, Cascón A, Robledo M, Rodríguez-Antona C. Leandro-García LJ, et al. Among authors: cascon a. Anal Biochem. 2009 Jun 1;389(1):74-6. doi: 10.1016/j.ab.2009.03.021. Epub 2009 Mar 20. Anal Biochem. 2009. PMID: 19303860
Tumoral and tissue-specific expression of the major human beta-tubulin isotypes.
Leandro-García LJ, Leskelä S, Landa I, Montero-Conde C, López-Jiménez E, Letón R, Cascón A, Robledo M, Rodríguez-Antona C. Leandro-García LJ, et al. Among authors: cascon a. Cytoskeleton (Hoboken). 2010 Apr;67(4):214-23. doi: 10.1002/cm.20436. Cytoskeleton (Hoboken). 2010. PMID: 20191564
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.
Comino-Méndez I, Gracia-Aznárez FJ, Schiavi F, Landa I, Leandro-García LJ, Letón R, Honrado E, Ramos-Medina R, Caronia D, Pita G, Gómez-Graña A, de Cubas AA, Inglada-Pérez L, Maliszewska A, Taschin E, Bobisse S, Pica G, Loli P, Hernández-Lavado R, Díaz JA, Gómez-Morales M, González-Neira A, Roncador G, Rodríguez-Antona C, Benítez J, Mannelli M, Opocher G, Robledo M, Cascón A. Comino-Méndez I, et al. Among authors: cascon a. Nat Genet. 2011 Jun 19;43(7):663-7. doi: 10.1038/ng.861. Nat Genet. 2011. PMID: 21685915
108 results