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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. 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.
Molecular characterisation of a common SDHB deletion in paraganglioma patients.
Cascón A, Landa I, López-Jiménez E, Díez-Hernández A, Buchta M, Montero-Conde C, Leskelä S, Leandro-García LJ, Letón R, Rodríguez-Antona C, Eng C, Neumann HP, Robledo M. Cascón A, et al. J Med Genet. 2008 Apr;45(4):233-8. doi: 10.1136/jmg.2007.054965. Epub 2007 Dec 5. J Med Genet. 2008. PMID: 18057081
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. 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
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. 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
The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.
Landa I, Ruiz-Llorente S, Montero-Conde C, Inglada-Pérez L, Schiavi F, Leskelä S, Pita G, Milne R, Maravall J, Ramos I, Andía V, Rodríguez-Poyo P, Jara-Albarrán A, Meoro A, del Peso C, Arribas L, Iglesias P, Caballero J, Serrano J, Picó A, Pomares F, Giménez G, López-Mondéjar P, Castello R, Merante-Boschin I, Pelizzo MR, Mauricio D, Opocher G, Rodríguez-Antona C, González-Neira A, Matías-Guiu X, Santisteban P, Robledo M. Landa I, et al. PLoS Genet. 2009 Sep;5(9):e1000637. doi: 10.1371/journal.pgen.1000637. Epub 2009 Sep 4. PLoS Genet. 2009. PMID: 19730683 Free PMC article.
160 results