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Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma: a position statement and consensus of the Working Group on Endocrine Hypertension of the European Society of Hypertension.
Lenders JWM, Kerstens MN, Amar L, Prejbisz A, Robledo M, Taieb D, Pacak K, Crona J, Zelinka T, Mannelli M, Deutschbein T, Timmers HJLM, Castinetti F, Dralle H, Widimský J, Gimenez-Roqueplo AP, Eisenhofer G. Lenders JWM, et al. Among authors: robledo m. J Hypertens. 2020 Aug;38(8):1443-1456. doi: 10.1097/HJH.0000000000002438. J Hypertens. 2020. PMID: 32412940 Free PMC article. Review.
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. Among authors: robledo m. 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
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.
Bayley JP, Kunst HP, Cascon A, Sampietro ML, Gaal J, Korpershoek E, Hinojar-Gutierrez A, Timmers HJ, Hoefsloot LH, Hermsen MA, Suárez C, Hussain AK, Vriends AH, Hes FJ, Jansen JC, Tops CM, Corssmit EP, de Knijff P, Lenders JW, Cremers CW, Devilee P, Dinjens WN, de Krijger RR, Robledo M. Bayley JP, et al. Among authors: robledo m. Lancet Oncol. 2010 Apr;11(4):366-72. doi: 10.1016/S1470-2045(10)70007-3. Epub 2010 Jan 11. Lancet Oncol. 2010. PMID: 20071235
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: robledo m. Nat Genet. 2011 Jun 19;43(7):663-7. doi: 10.1038/ng.861. Nat Genet. 2011. PMID: 21685915
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: robledo m. 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
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: robledo 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
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. Among authors: robledo m. 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
Opposing effects of HIF1α and HIF2α on chromaffin cell phenotypic features and tumor cell proliferation: Insights from MYC-associated factor X.
Qin N, de Cubas AA, Garcia-Martin R, Richter S, Peitzsch M, Menschikowski M, Lenders JW, Timmers HJ, Mannelli M, Opocher G, Economopoulou M, Siegert G, Chavakis T, Pacak K, Robledo M, Eisenhofer G. Qin N, et al. Among authors: robledo m. Int J Cancer. 2014 Nov 1;135(9):2054-64. doi: 10.1002/ijc.28868. Epub 2014 Apr 7. Int J Cancer. 2014. PMID: 24676840 Free article.
367 results