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An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes.
Gimenez-Roqueplo AP, Dahia PL, Robledo M. Gimenez-Roqueplo AP, et al. Among authors: robledo m. Horm Metab Res. 2012 May;44(5):328-33. doi: 10.1055/s-0031-1301302. Epub 2012 Feb 10. Horm Metab Res. 2012. PMID: 22328163 Review.
Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.
Cascon A, Ruiz-Llorente S, Cebrian A, Telleria D, Rivero JC, Diez JJ, Lopez-Ibarra PJ, Jaunsolo MA, Benitez J, Robledo M. Cascon A, et al. Among authors: robledo m. Eur J Hum Genet. 2002 Aug;10(8):457-61. doi: 10.1038/sj.ejhg.5200829. Eur J Hum Genet. 2002. PMID: 12111639
A novel candidate region linked to development of both pheochromocytoma and head/neck paraganglioma.
Cascón A, Ruiz-Llorente S, Rodríguez-Perales S, Honrado E, Martínez-Ramírez A, Letón R, Montero-Conde C, Benítez J, Dopazo J, Cigudosa JC, Robledo M. Cascón A, et al. Among authors: robledo m. Genes Chromosomes Cancer. 2005 Mar;42(3):260-8. doi: 10.1002/gcc.20139. Genes Chromosomes Cancer. 2005. PMID: 15609347
Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?
Cascón A, Montero-Conde C, Ruiz-Llorente S, Mercadillo F, Letón R, Rodríguez-Antona C, Martínez-Delgado B, Delgado M, Díez A, Rovira A, Díaz JA, Robledo M. Cascón A, et al. Among authors: robledo m. Genes Chromosomes Cancer. 2006 Mar;45(3):213-9. doi: 10.1002/gcc.20283. Genes Chromosomes Cancer. 2006. PMID: 16258955
Pediatric paraganglioma: an early manifestation of an adult disease secondary to germline mutations.
Mora J, Cascón A, Robledo M, Catala A. Mora J, et al. Among authors: robledo m. Pediatr Blood Cancer. 2006 Nov;47(6):785-9. doi: 10.1002/pbc.20680. Pediatr Blood Cancer. 2006. PMID: 16304664
Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.
Bausch B, Borozdin W, Mautner VF, Hoffmann MM, Boehm D, Robledo M, Cascon A, Harenberg T, Schiavi F, Pawlu C, Peczkowska M, Letizia C, Calvieri S, Arnaldi G, Klingenberg-Noftz RD, Reisch N, Fassina A, Brunaud L, Walter MA, Mannelli M, MacGregor G, Palazzo FF, Barontini M, Walz MK, Kremens B, Brabant G, Pfäffle R, Koschker AC, Lohoefner F, Mohaupt M, Gimm O, Jarzab B, McWhinney SR, Opocher G, Januszewicz A, Kohlhase J, Eng C, Neumann HP; European-American Phaeochromocytoma Registry Study Group. Bausch B, et al. Among authors: robledo m. J Clin Endocrinol Metab. 2007 Jul;92(7):2784-92. doi: 10.1210/jc.2006-2833. Epub 2007 Apr 10. J Clin Endocrinol Metab. 2007. PMID: 17426081
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
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
Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.
Neumann HP, Erlic Z, Boedeker CC, Rybicki LA, Robledo M, Hermsen M, Schiavi F, Falcioni M, Kwok P, Bauters C, Lampe K, Fischer M, Edelman E, Benn DE, Robinson BG, Wiegand S, Rasp G, Stuck BA, Hoffmann MM, Sullivan M, Sevilla MA, Weiss MM, Peczkowska M, Kubaszek A, Pigny P, Ward RL, Learoyd D, Croxson M, Zabolotny D, Yaremchuk S, Draf W, Muresan M, Lorenz RR, Knipping S, Strohm M, Dyckhoff G, Matthias C, Reisch N, Preuss SF, Esser D, Walter MA, Kaftan H, Stöver T, Fottner C, Gorgulla H, Malekpour M, Zarandy MM, Schipper J, Brase C, Glien A, Kühnemund M, Koscielny S, Schwerdtfeger P, Välimäki M, Szyfter W, Finckh U, Zerres K, Cascon A, Opocher G, Ridder GJ, Januszewicz A, Suarez C, Eng C. Neumann HP, et al. Among authors: robledo m. Cancer Res. 2009 Apr 15;69(8):3650-6. doi: 10.1158/0008-5472.CAN-08-4057. Epub 2009 Apr 7. Cancer Res. 2009. PMID: 19351833
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
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