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Page 1
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: opocher g. 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.
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: opocher g. 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
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: opocher g. Nat Genet. 2011 Jun 19;43(7):663-7. doi: 10.1038/ng.861. Nat Genet. 2011. PMID: 21685915
PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics.
Currás-Freixes M, Piñeiro-Yañez E, Montero-Conde C, Apellániz-Ruiz M, Calsina B, Mancikova V, Remacha L, Richter S, Ercolino T, Rogowski-Lehmann N, Deutschbein T, Calatayud M, Guadalix S, Álvarez-Escolá C, Lamas C, Aller J, Sastre-Marcos J, Lázaro C, Galofré JC, Patiño-García A, Meoro-Avilés A, Balmaña-Gelpi J, De Miguel-Novoa P, Balbín M, Matías-Guiu X, Letón R, Inglada-Pérez L, Torres-Pérez R, Roldán-Romero JM, Rodríguez-Antona C, Fliedner SMJ, Opocher G, Pacak K, Korpershoek E, de Krijger RR, Vroonen L, Mannelli M, Fassnacht M, Beuschlein F, Eisenhofer G, Cascón A, Al-Shahrour F, Robledo M. Currás-Freixes M, et al. Among authors: opocher g. J Mol Diagn. 2017 Jul;19(4):575-588. doi: 10.1016/j.jmoldx.2017.04.009. Epub 2017 May 25. J Mol Diagn. 2017. PMID: 28552549 Free PMC article.
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: opocher g. 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.
Genetics of pheochromocytomas and paragangliomas.
Opocher G, Schiavi F. Opocher G, et al. 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.
MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.
Burnichon N, Cascón A, Schiavi F, Morales NP, Comino-Méndez I, Abermil N, Inglada-Pérez L, de Cubas AA, Amar L, Barontini M, de Quirós SB, Bertherat J, Bignon YJ, Blok MJ, Bobisse S, Borrego S, Castellano M, Chanson P, Chiara MD, Corssmit EP, Giacchè M, de Krijger RR, Ercolino T, Girerd X, Gómez-García EB, Gómez-Graña A, Guilhem I, Hes FJ, Honrado E, Korpershoek E, Lenders JW, Letón R, Mensenkamp AR, Merlo A, Mori L, Murat A, Pierre P, Plouin PF, Prodanov T, Quesada-Charneco M, Qin N, Rapizzi E, Raymond V, Reisch N, Roncador G, Ruiz-Ferrer M, Schillo F, Stegmann AP, Suarez C, Taschin E, Timmers HJ, Tops CM, Urioste M, Beuschlein F, Pacak K, Mannelli M, Dahia PL, Opocher G, Eisenhofer G, Gimenez-Roqueplo AP, Robledo M. Burnichon N, et al. Among authors: opocher g. Clin Cancer Res. 2012 May 15;18(10):2828-37. doi: 10.1158/1078-0432.CCR-12-0160. Epub 2012 Mar 27. Clin Cancer Res. 2012. PMID: 22452945
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: opocher g. 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
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: opocher g. 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.
190 results