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VELÁZQUEZ C, ESTEBAN-CARDEÑOSA EM, LASTRA E, et al. A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer. Breast. 2018 Nov 29;43:91-96. doi: 10.1016/j.breast.2018.11.010
MUÑOZ-GONZÁLEZ JI, JARA-ACEVEDO M, ALVAREZ-TWOSE I, et al. Impact of somatic and germline mutations on the outcome of systemic mastocytosis. Blood Adv. 2018 Nov 13;2(21):2814-2828. doi: 10.1182/bloodadvances.2018020628.
GONZÁLEZ-SERNA D, ORTIZ-FERNÁNDEZ L, VARGAS S, et al. Association of a rare variant of the TNFSF13B gene with susceptibility to Rheumatoid Arthritis and Systemic Lupus Erythematosus. Sci Rep. 2018 May 29;8(1):8195. doi: 10.1038/s41598-018-26573-4
HERRAIZ-MARTÍNEZ A, LLACH A, TARIFA C, et al. The 4q25 variant rs13143308T links risk of atrial fibrillation to defective calcium homeostasis. Cardiovasc Res. 2018 Aug 14. doi: 10.1093/cvr/cvy215.
BANALES JM, IÑARRAIRAEGUI M, ARBELAIZ A, et al. Serum metabolites as diagnostic biomarkers for cholangiocarcinoma, hepatocellular carcinoma and primary sclerosing cholangitis. Hepatology. 2018 Oct 16. doi: 10.1002/hep.30319
MARQUETA-GRACIA JJ, ÁLVAREZ-ÁLVAREZ M, BAETA M, et al. Differentially methylated CpG regions analyzed by PCR-high resolution melting for monozygotic twin pair discrimination. Forensic Sci Int Genet. 2018 Nov;37:e1-e5. doi: 10.1016/j.fsigen.2018.08.013
VILLAESCUSA P, PALENCIA-MADRID L, CAMPANER MA, et al. Effective resolution of the Y chromosome sublineages of the Iberian haplogroup R1b-DF27 with forensic purposes. Int J Legal Med. 2018 Sep 18. doi: 10.1007/s00414-018-1936-z.
GENESCÀ E, LAZARENKOV A, MORGADES M, et al. Frequency and clinical impact of CDKN2A/ARF/CDKN2B gene deletions as assessed by in-depth genetic analyses in adult T cell acute lymphoblastic leukemia. J Hematol Oncol. 2018 Jul 24;11(1):96. doi: 10.1186/s13045-018-0639-8.
HERNANDEZ-PACHECO N, GUILLEN-GUIO B, ACOSTA-HERRERA M, et al; GEN-SEP Network. A vascular endothelial growth factor receptor gene variant is associated with susceptibility to acute respiratory distress syndrome. Intensive Care Med Exp. 2018 Jul 9;6(1):16. doi: 10.1186/s40635-018-0181-6.
GONZÁLEZ-TABLAS M, CRESPO I, VITAL AL, et al. Prognostic stratification of adult primary glioblastoma multiforme patients based on their tumor gene amplification profiles. Oncotarget. 2018 Jun 15;9(46):28083-28102. doi: 10.18632/oncotarget.25562. eCollection 2018 Jun 15
CRIADO I, BLANCO E, RODRÍGUEZ-CABALLERO A, et al; EuroFlow PID Group and The Primary Health Care Group of Salamanca for the Study of MBL. Residual normal B-cell profiles in monoclonal B-cell lymphocytosis versus chronic lymphocytic leukemia. Leukemia. 2018 Jun 21. doi: 10.1038/s41375-018-0164-3
CRIADO I, RODRÍGUEZ-CABALLERO A, GUTIÉRREZ ML, et al; Primary Health Care Group of Salamanca for the Study of MBL. Low-count monoclonal B-cell lymphocytosis persists after seven years of follow up and is associated with a poorer outcome. Haematologica. 2018 Jul;103(7):1198-1208. doi: 10.3324/haematol.2017.183954.
NICOLETTI P, AITHAL GP, BJORNSSON ES, et al; International Drug-Induced Liver Injury Consortium, Drug-Induced Liver Injury Network Investigators, and International Serious Adverse Events Consortium. Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-Wide Association Study. Gastroenterology. 2017 Apr;152(5):1078-1089. doi: 10.1053/j.gastro.2016.12.016.
VALVERDE L, ILLESCAS MJ, VILLAESCUSA P, et al. New clues to the evolutionary history of the main European paternal lineage M269: dissection of the Y-SNP S116 in Atlantic Europe and Iberia. Eur J Hum Genet. 2016 Mar;24(3):437-41. doi: 10.1038/ejhg.2015.114.
NICOLETTI P, WERK AN, SAWLE A, et al; International Drug-induced Liver Injury Consortium. HLA-DRB1*16: 01-DQB1*05: 02 is a novel genetic risk factor for flupirtine-induced liver injury. Pharmacogenet Genomics. 2016 May;26(5):218-24. doi: 10.1097/FPC.0000000000000209.
MUÑOZ-LÓPEZ A, ROMERO-MOYA D, PRIETO C, et al. Development Refractoriness of MLL-Rearranged Human B Cell Acute Leukemias to Reprogramming into Pluripotency. Stem Cell Reports. 2016 Oct 11;7(4):602-618. doi: 10.1016/j.stemcr.2016.08.013.
INFANTE M, DURÁN M, ACEDO A, et al.The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins. Carcinogenesis. 2014. 2013 Nov;34(11):2505-11. doi: 10.1093/carcin/bgt272
BEDIAGA NG, MARICHALAR-MENDIA X, REY-BARJA N, et al. Polymorphisms in alcohol and tobacco metabolism genes in head and neck cancer in the Basque Country. J Oral Pathol Med. 2015 Nov;44(10):769-75. doi: 10.1111/jop.12305
PRIETO-FERNANDEZ E, BAETA M, NUÑEZ C, et al. A new 17 X-STR multiplex por forensic purposes. Forensic Science Internatonal: Genetics supplements series. 2015
RICHARD E, BRASIL S, BRISO-MONTIANO A, et al. Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type. Stem Cell Res. 2018 Apr 5;29:143-147. doi: 10.1016/j.scr.2018.03.021
BARRAL-ARCA R, PISCHEDDA S, GÓMEZ-CARBALLA A, et al. Meta-Analysis of Mitochondrial DNA Variation in the Iberian Peninsula. PLoS One. 2016 Jul 21;11(7):e0159735. doi: 10.1371/journal.pone.0159735. eCollection 2016
MUÑOZ-LÓPEZ Á, VAN ROON EH, ROMERO-MOYA D, et al. Cellular Ontogeny and Hierarchy Influence the Reprogramming Efficiency of Human B Cells into Induced Pluripotent Stem Cells. Stem Cells. 2016 Mar;34(3):581-7. doi: 10.1002/stem.2303
BAZ-DÁVILA R, ESPINOZA-JIMÉNEZ A, RODRÍGUEZ-PÉREZ MDEL C, et al. Role of HIF1A, VEGFA and VEGFR2 SNPs in the Susceptibility and Progression of COPD in a Spanish Population. PLoS One. 2016 May 10;11(5):e0154998. doi: 10.1371/journal.pone.0154998. eCollection 2016
MARTÍNEZ-CRUZ B, MENDIZABAL I, HARMANT C, et al. Origins, admixture and founder lineages in European Roma. Eur J Hum Genet. 2016 Jun;24(6):937-43. doi: 10.1038/ejhg.2015.201
PRIETO-FERNÁNDEZ E, BAETA M, NÚÑEZ C, et al. Development of a new highly efficient 17 X-STR multiplex for forensic purposes. Electrophoresis. 2016 Jul;37(12):1651-8. doi: 10.1002/elps.201500546
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Universidad de Salamanca
Red de biobancos
Instituto Carlos III
Junta de Castilla y León
Union Europea
Banco Nacional de ADN
Edificio Multiusos I+D+i (Universidad de Salamanca)
C/ Espejo s/n. 37007 Salamanca
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