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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: mannelli m. 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.
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: mannelli m. 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
Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients.
Calsina B, Currás-Freixes M, Buffet A, Pons T, Contreras L, Letón R, Comino-Méndez I, Remacha L, Calatayud M, Obispo B, Martin A, Cohen R, Richter S, Balmaña J, Korpershoek E, Rapizzi E, Deutschbein T, Vroonen L, Favier J, de Krijger RR, Fassnacht M, Beuschlein F, Timmers HJ, Eisenhofer G, Mannelli M, Pacak K, Satrústegui J, Rodríguez-Antona C, Amar L, Cascón A, Dölker N, Gimenez-Roqueplo AP, Robledo M. Calsina B, et al. Among authors: mannelli m. Genet Med. 2018 Dec;20(12):1652-1662. doi: 10.1038/s41436-018-0068-7. Epub 2018 Jul 16. Genet Med. 2018. PMID: 30008476 Free PMC article.
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Richter S, Gieldon L, Pang Y, Peitzsch M, Huynh T, Leton R, Viana B, Ercolino T, Mangelis A, Rapizzi E, Menschikowski M, Aust D, Kroiss M, Beuschlein F, Gudziol V, Timmers HJ, Lenders J, Mannelli M, Cascon A, Pacak K, Robledo M, Eisenhofer G, Klink B. Richter S, et al. Among authors: mannelli m. Genet Med. 2019 Mar;21(3):705-717. doi: 10.1038/s41436-018-0106-5. Epub 2018 Jul 27. Genet Med. 2019. PMID: 30050099 Free PMC article.
Pheochromocytoma: recommendations for clinical practice from the First International Symposium. October 2005.
Pacak K, Eisenhofer G, Ahlman H, Bornstein SR, Gimenez-Roqueplo AP, Grossman AB, Kimura N, Mannelli M, McNicol AM, Tischler AS; International Symposium on Pheochromocytoma. Pacak K, et al. Among authors: mannelli m. Nat Clin Pract Endocrinol Metab. 2007 Feb;3(2):92-102. doi: 10.1038/ncpendmet0396. Nat Clin Pract Endocrinol Metab. 2007. PMID: 17237836
Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.
Comino-Méndez I, de Cubas AA, Bernal C, Álvarez-Escolá C, Sánchez-Malo C, Ramírez-Tortosa CL, Pedrinaci S, Rapizzi E, Ercolino T, Bernini G, Bacca A, Letón R, Pita G, Alonso MR, Leandro-García LJ, Gómez-Graña A, Inglada-Pérez L, Mancikova V, Rodríguez-Antona C, Mannelli M, Robledo M, Cascón A. Comino-Méndez I, et al. Among authors: mannelli m. Hum Mol Genet. 2013 Jun 1;22(11):2169-76. doi: 10.1093/hmg/ddt069. Epub 2013 Feb 14. Hum Mol Genet. 2013. PMID: 23418310
H-RAS mutations are restricted to sporadic pheochromocytomas lacking specific clinical or pathological features: data from a multi-institutional series.
Oudijk L, de Krijger RR, Rapa I, Beuschlein F, de Cubas AA, Dei Tos AP, Dinjens WN, Korpershoek E, Mancikova V, Mannelli M, Papotti M, Vatrano S, Robledo M, Volante M. Oudijk L, et al. Among authors: mannelli m. J Clin Endocrinol Metab. 2014 Jul;99(7):E1376-80. doi: 10.1210/jc.2013-3879. Epub 2014 Mar 31. J Clin Endocrinol Metab. 2014. PMID: 24684458 Free article.
Pitfalls in genetic analysis of pheochromocytomas/paragangliomas-case report.
Canu L, Rapizzi E, Zampetti B, Fucci R, Nesi G, Richter S, Qin N, Giachè V, Bergamini C, Parenti G, Valeri A, Ercolino T, Eisenhofer G, Mannelli M. Canu L, et al. Among authors: mannelli m. J Clin Endocrinol Metab. 2014 Jul;99(7):2321-6. doi: 10.1210/jc.2013-4453. Epub 2014 Apr 23. J Clin Endocrinol Metab. 2014. PMID: 24758185
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: mannelli m. 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.
SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).
Papathomas TG, Oudijk L, Persu A, Gill AJ, van Nederveen F, Tischler AS, Tissier F, Volante M, Matias-Guiu X, Smid M, Favier J, Rapizzi E, Libe R, Currás-Freixes M, Aydin S, Huynh T, Lichtenauer U, van Berkel A, Canu L, Domingues R, Clifton-Bligh RJ, Bialas M, Vikkula M, Baretton G, Papotti M, Nesi G, Badoual C, Pacak K, Eisenhofer G, Timmers HJ, Beuschlein F, Bertherat J, Mannelli M, Robledo M, Gimenez-Roqueplo AP, Dinjens WN, Korpershoek E, de Krijger RR. Papathomas TG, et al. Among authors: mannelli m. Mod Pathol. 2015 Jun;28(6):807-21. doi: 10.1038/modpathol.2015.41. Epub 2015 Feb 27. Mod Pathol. 2015. PMID: 25720320 Free article.
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