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Page 1
SDHC mutation in an elderly patient without familial antecedents.
López-Jiménez E, de Campos JM, Kusak EM, Landa I, Leskelä S, Montero-Conde C, Leandro-García LJ, Vallejo LA, Madrigal B, Rodríguez-Antona C, Robledo M, Cascón A. López-Jiménez E, et al. Among authors: robledo m. Clin Endocrinol (Oxf). 2008 Dec;69(6):906-10. doi: 10.1111/j.1365-2265.2008.03368.x. Epub 2008 Aug 4. Clin Endocrinol (Oxf). 2008. PMID: 18681855
Rationalization of genetic testing in patients with apparently sporadic pheochromocytoma/paraganglioma.
Cascón A, López-Jiménez E, Landa I, Leskelä S, Leandro-García LJ, Maliszewska A, Letón R, de la Vega L, García-Barcina MJ, Sanabria C, Alvarez-Escolá C, Rodríguez-Antona C, Robledo M. Cascón A, et al. Among authors: robledo m. Horm Metab Res. 2009 Sep;41(9):672-5. doi: 10.1055/s-0029-1202814. Epub 2009 Apr 2. Horm Metab Res. 2009. PMID: 19343621
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. Among authors: robledo m. 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
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. Among authors: robledo m. 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
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: robledo 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.
Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomas.
Eijkelenkamp K, Olderode-Berends MJW, van der Luijt RB, Robledo M, van Dooren M, Feelders RA, de Vries J, Kerstens MN, Links TP, van der Horst-Schrivers ANA. Eijkelenkamp K, et al. Among authors: robledo m. Clin Genet. 2018 May;93(5):1049-1056. doi: 10.1111/cge.13202. Epub 2018 Mar 23. Clin Genet. 2018. PMID: 29282712
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: robledo m. 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.
379 results