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Page 1
Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.
Molina-Zayas M, Garrido-Navas C, García-Puche JL, Barwell J, Pedrinaci S, Atienza MM, García-Linares S, de Haro-Muñoz T, Lorente JA, Serrano MJ, Poyatos-Andújar A. Molina-Zayas M, et al. Among authors: pedrinaci s. Mol Genet Genomics. 2022 May;297(3):859-871. doi: 10.1007/s00438-022-01891-5. Epub 2022 Apr 22. Mol Genet Genomics. 2022. PMID: 35451682 Free PMC article.
Acceleration of the DNA methylation clock among lynch syndrome-associated mutation carriers.
Cuadros M, Cano C, Garcia-Rodriguez S, Martín JL, Poyatos-Andujar A, Ruiz-Cabello F, Pedrinaci S, Durán G, Benavides M, Bautista-Ojeda MD, Pereda T, Benitez-Cantos MS, Medina P, Blanco A, Gonzalez A, Lizardi P. Cuadros M, et al. Among authors: pedrinaci s. BMC Med Genomics. 2022 Mar 4;15(1):45. doi: 10.1186/s12920-022-01183-2. BMC Med Genomics. 2022. PMID: 35246124 Free PMC article.
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: pedrinaci s. 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
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: pedrinaci s. 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.
Analysis of HLA-E expression in human tumors.
Marín R, Ruiz-Cabello F, Pedrinaci S, Méndez R, Jiménez P, Geraghty DE, Garrido F. Marín R, et al. Among authors: pedrinaci s. Immunogenetics. 2003 Feb;54(11):767-75. doi: 10.1007/s00251-002-0526-9. Epub 2003 Jan 30. Immunogenetics. 2003. PMID: 12618909
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: pedrinaci s. 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
Characterization of HLA class I altered phenotypes in a panel of human melanoma cell lines.
Méndez R, Rodríguez T, Del Campo A, Monge E, Maleno I, Aptsiauri N, Jiménez P, Pedrinaci S, Pawelec G, Ruiz-Cabello F, Garrido F. Méndez R, et al. Among authors: pedrinaci s. Cancer Immunol Immunother. 2008 May;57(5):719-29. doi: 10.1007/s00262-007-0411-3. Epub 2007 Oct 13. Cancer Immunol Immunother. 2008. PMID: 17934731 Free PMC article.
28 results