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Page 1
Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.
Currás-Freixes M, Inglada-Pérez L, Mancikova V, Montero-Conde C, Letón R, Comino-Méndez I, Apellániz-Ruiz M, Sánchez-Barroso L, Aguirre Sánchez-Covisa M, Alcázar V, Aller J, Álvarez-Escolá C, Andía-Melero VM, Azriel-Mira S, Calatayud-Gutiérrez M, Díaz JÁ, Díez-Hernández A, Lamas-Oliveira C, Marazuela M, Matias-Guiu X, Meoro-Avilés A, Patiño-García A, Pedrinaci S, Riesco-Eizaguirre G, Sábado-Álvarez C, Sáez-Villaverde R, Sainz de Los Terreros A, Sanz Guadarrama Ó, Sastre-Marcos J, Scolá-Yurrita B, Segura-Huerta Á, Serrano-Corredor Mde L, Villar-Vicente MR, Rodríguez-Antona C, Korpershoek E, Cascón A, Robledo M. Currás-Freixes M, et al. J Med Genet. 2015 Oct;52(10):647-56. doi: 10.1136/jmedgenet-2015-103218. Epub 2015 Aug 12. J Med Genet. 2015. PMID: 26269449
Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.
Castro-Vega LJ, Buffet A, De Cubas AA, Cascón A, Menara M, Khalifa E, Amar L, Azriel S, Bourdeau I, Chabre O, Currás-Freixes M, Franco-Vidal V, Guillaud-Bataille M, Simian C, Morin A, Letón R, Gómez-Graña A, Pollard PJ, Rustin P, Robledo M, Favier J, Gimenez-Roqueplo AP. Castro-Vega LJ, et al. Hum Mol Genet. 2014 May 1;23(9):2440-6. doi: 10.1093/hmg/ddt639. Epub 2013 Dec 13. Hum Mol Genet. 2014. PMID: 24334767
DNA methylation profiling of well-differentiated thyroid cancer uncovers markers of recurrence free survival.
Mancikova V, Buj R, Castelblanco E, Inglada-Pérez L, Diez A, de Cubas AA, Curras-Freixes M, Maravall FX, Mauricio D, Matias-Guiu X, Puig-Domingo M, Capel I, Bella MR, Lerma E, Castella E, Reverter JL, Peinado MÁ, Jorda M, Robledo M. Mancikova V, et al. Int J Cancer. 2014 Aug 1;135(3):598-610. doi: 10.1002/ijc.28703. Epub 2014 Jan 13. Int J Cancer. 2014. PMID: 24382797
VEGF, VEGFR3, and PDGFRB protein expression is influenced by RAS mutations in medullary thyroid carcinoma.
Mancikova V, Inglada-Pérez L, Curras-Freixes M, de Cubas AA, Gómez Á, Letón R, Kersten I, Leandro-García LJ, Comino-Méndez I, Apellaniz-Ruiz M, Sánchez L, Cascón A, Sastre-Marcos J, García JF, Rodríguez-Antona C, Robledo M. Mancikova V, et al. Thyroid. 2014 Aug;24(8):1251-5. doi: 10.1089/thy.2013.0579. Epub 2014 Jun 3. Thyroid. 2014. PMID: 24754736
High frequency and founder effect of the CYP3A4*20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme.
Apellániz-Ruiz M, Inglada-Pérez L, Naranjo ME, Sánchez L, Mancikova V, Currás-Freixes M, de Cubas AA, Comino-Méndez I, Triki S, Rebai A, Rasool M, Moya G, Grazina M, Opocher G, Cascón A, Taboada-Echalar P, Ingelman-Sundberg M, Carracedo A, Robledo M, Llerena A, Rodríguez-Antona C. Apellániz-Ruiz M, et al. Pharmacogenomics J. 2015 Jun;15(3):288-92. doi: 10.1038/tpj.2014.67. Epub 2014 Nov 4. Pharmacogenomics J. 2015. PMID: 25348618
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. 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.
Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.
Cascón A, Comino-Méndez I, Currás-Freixes M, de Cubas AA, Contreras L, Richter S, Peitzsch M, Mancikova V, Inglada-Pérez L, Pérez-Barrios A, Calatayud M, Azriel S, Villar-Vicente R, Aller J, Setién F, Moran S, Garcia JF, Río-Machín A, Letón R, Gómez-Graña Á, Apellániz-Ruiz M, Roncador G, Esteller M, Rodríguez-Antona C, Satrústegui J, Eisenhofer G, Urioste M, Robledo M. Cascón A, et al. J Natl Cancer Inst. 2015 Mar 11;107(5):djv053. doi: 10.1093/jnci/djv053. J Natl Cancer Inst. 2015. PMID: 25766404
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. 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. 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
ATRX driver mutation in a composite malignant pheochromocytoma.
Comino-Méndez I, Tejera ÁM, Currás-Freixes M, Remacha L, Gonzalvo P, Tonda R, Letón R, Blasco MA, Robledo M, Cascón A. Comino-Méndez I, et al. Cancer Genet. 2016 Jun;209(6):272-7. doi: 10.1016/j.cancergen.2016.04.058. Epub 2016 Apr 26. Cancer Genet. 2016. PMID: 27209355
35 results