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Functional and in silico assessment of MAX variants of unknown significance.
Comino-Méndez I, Leandro-García LJ, Montoya G, Inglada-Pérez L, de Cubas AA, Currás-Freixes M, Tysoe C, Izatt L, Letón R, Gómez-Graña Á, Mancikova V, Apellániz-Ruiz M, Mannelli M, Schiavi F, Favier J, Gimenez-Roqueplo AP, Timmers HJ, Roncador G, Garcia JF, Rodríguez-Antona C, Robledo M, Cascón A. Comino-Méndez I, et al. J Mol Med (Berl). 2015 Nov;93(11):1247-55. doi: 10.1007/s00109-015-1306-y. Epub 2015 Jun 14. J Mol Med (Berl). 2015. PMID: 26070438
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
SDHC mutation in an elderly patient without familial antecedents.
López-Jiménez E, de Campos JM, Kusak EM, Landa I, Leskelä S, Montero-Conde C, Leandro-García LJ, Vallejo LA, Madrigal B, Rodríguez-Antona C, Robledo M, Cascón A. López-Jiménez E, et al. Clin Endocrinol (Oxf). 2008 Dec;69(6):906-10. doi: 10.1111/j.1365-2265.2008.03368.x. Epub 2008 Aug 4. Clin Endocrinol (Oxf). 2008. PMID: 18681855
Genetics of pheochromocytoma and paraganglioma in Spanish patients.
Cascón A, Pita G, Burnichon N, Landa I, López-Jiménez E, Montero-Conde C, Leskelä S, Leandro-García LJ, Letón R, Rodríguez-Antona C, Díaz JA, López-Vidriero E, González-Neira A, Velasco A, Matias-Guiu X, Gimenez-Roqueplo AP, Robledo M. Cascón A, et al. J Clin Endocrinol Metab. 2009 May;94(5):1701-5. doi: 10.1210/jc.2008-2756. Epub 2009 Mar 3. J Clin Endocrinol Metab. 2009. PMID: 19258401
Overexpression and activation of EGFR and VEGFR2 in medullary thyroid carcinomas is related to metastasis.
Rodríguez-Antona C, Pallares J, Montero-Conde C, Inglada-Pérez L, Castelblanco E, Landa I, Leskelä S, Leandro-García LJ, López-Jiménez E, Letón R, Cascón A, Lerma E, Martin MC, Carralero MC, Mauricio D, Cigudosa JC, Matias-Guiu X, Robledo M. Rodríguez-Antona C, et al. Endocr Relat Cancer. 2010 Jan 29;17(1):7-16. doi: 10.1677/ERC-08-0304. Print 2010 Mar. Endocr Relat Cancer. 2010. PMID: 19776290
Polymorphisms in cytochromes P450 2C8 and 3A5 are associated with paclitaxel neurotoxicity.
Leskelä S, Jara C, Leandro-García LJ, Martínez A, García-Donas J, Hernando S, Hurtado A, Vicario JC, Montero-Conde C, Landa I, López-Jiménez E, Cascón A, Milne RL, Robledo M, Rodríguez-Antona C. Leskelä S, et al. Pharmacogenomics J. 2011 Apr;11(2):121-9. doi: 10.1038/tpj.2010.13. Epub 2010 Mar 9. Pharmacogenomics J. 2011. PMID: 20212519
44 results