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Research resource: Transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas.
López-Jiménez E, Gómez-López G, Leandro-García LJ, Muñoz I, Schiavi F, Montero-Conde C, de Cubas AA, Ramires R, Landa I, Leskelä S, Maliszewska A, Inglada-Pérez L, de la Vega L, Rodríguez-Antona C, Letón R, Bernal C, de Campos JM, Diez-Tascón C, Fraga MF, Boullosa C, Pisano DG, Opocher G, Robledo M, Cascón A. López-Jiménez E, et al. Among authors: schiavi f. Mol Endocrinol. 2010 Dec;24(12):2382-91. doi: 10.1210/me.2010-0256. Epub 2010 Oct 27. Mol Endocrinol. 2010. PMID: 20980436 Free PMC article.
Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways.
de Cubas AA, Leandro-García LJ, Schiavi F, Mancikova V, Comino-Méndez I, Inglada-Pérez L, Perez-Martinez M, Ibarz N, Ximénez-Embún P, López-Jiménez E, Maliszewska A, Letón R, Gómez Graña A, Bernal C, Alvarez-Escolá C, Rodríguez-Antona C, Opocher G, Muñoz J, Megias D, Cascón A, Robledo M. de Cubas AA, et al. Among authors: schiavi f. Endocr Relat Cancer. 2013 Jun 24;20(4):477-93. doi: 10.1530/ERC-12-0183. Print 2013 Aug. Endocr Relat Cancer. 2013. PMID: 23660872
Genetics of pheochromocytomas and paragangliomas.
Opocher G, Schiavi F. Opocher G, et al. Among authors: schiavi f. Best Pract Res Clin Endocrinol Metab. 2010 Dec;24(6):943-56. doi: 10.1016/j.beem.2010.05.001. Best Pract Res Clin Endocrinol Metab. 2010. PMID: 21115163 Review.
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: schiavi f. Nat Genet. 2011 Jun 19;43(7):663-7. doi: 10.1038/ng.861. Nat Genet. 2011. PMID: 21685915
Differential gene expression of medullary thyroid carcinoma reveals specific markers associated with genetic conditions.
Maliszewska A, Leandro-Garcia LJ, Castelblanco E, Macià A, de Cubas A, Goméz-López G, Inglada-Pérez L, Álvarez-Escolá C, De la Vega L, Letón R, Gómez-Graña Á, Landa I, Cascón A, Rodríguez-Antona C, Borrego S, Zane M, Schiavi F, Merante-Boschin I, Pelizzo MR, Pisano DG, Opocher G, Matias-Guiu X, Encinas M, Robledo M. Maliszewska A, et al. Among authors: schiavi f. Am J Pathol. 2013 Feb;182(2):350-62. doi: 10.1016/j.ajpath.2012.10.025. Epub 2012 Nov 28. Am J Pathol. 2013. PMID: 23201134 Free article.
Krebs cycle metabolite profiling for identification and stratification of pheochromocytomas/paragangliomas due to succinate dehydrogenase deficiency.
Richter S, Peitzsch M, Rapizzi E, Lenders JW, Qin N, de Cubas AA, Schiavi F, Rao JU, Beuschlein F, Quinkler M, Timmers HJ, Opocher G, Mannelli M, Pacak K, Robledo M, Eisenhofer G. Richter S, et al. Among authors: schiavi f. J Clin Endocrinol Metab. 2014 Oct;99(10):3903-11. doi: 10.1210/jc.2014-2151. Epub 2014 Jul 11. J Clin Endocrinol Metab. 2014. PMID: 25014000 Free PMC article.
DNA Methylation Profiling in Pheochromocytoma and Paraganglioma Reveals Diagnostic and Prognostic Markers.
de Cubas AA, Korpershoek E, Inglada-Pérez L, Letouzé E, Currás-Freixes M, Fernández AF, Comino-Méndez I, Schiavi F, Mancikova V, Eisenhofer G, Mannelli M, Opocher G, Timmers H, Beuschlein F, de Krijger R, Cascon A, Rodríguez-Antona C, Fraga MF, Favier J, Gimenez-Roqueplo AP, Robledo M. de Cubas AA, et al. Among authors: schiavi f. Clin Cancer Res. 2015 Jul 1;21(13):3020-30. doi: 10.1158/1078-0432.CCR-14-2804. Epub 2015 Mar 30. Clin Cancer Res. 2015. PMID: 25825477
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. Among authors: schiavi f. 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
Gain-of-function mutations in DNMT3A in patients with paraganglioma.
Remacha L, Currás-Freixes M, Torres-Ruiz R, Schiavi F, Torres-Pérez R, Calsina B, Letón R, Comino-Méndez I, Roldán-Romero JM, Montero-Conde C, Santos M, Pérez LI, Pita G, Alonso MR, Honrado E, Pedrinaci S, Crespo-Facorro B, Percesepe A, Falcioni M, Rodríguez-Perales S, Korpershoek E, Ramón-Maiques S, Opocher G, Rodríguez-Antona C, Robledo M, Cascón A. Remacha L, et al. Among authors: schiavi f. Genet Med. 2018 Dec;20(12):1644-1651. doi: 10.1038/s41436-018-0003-y. Epub 2018 May 8. Genet Med. 2018. PMID: 29740169 Free article.
101 results