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DAIMI H, KHELIL AH, NEJI A, BEN HAMDA K, MAAOUI S, ARANEGA A, BE CHIBANI J, FRANCO D Role of SCN5A coding and non-coding sequences in Brugada syndrome onset: What's behind the scenes?. Biomed J. 2019 Aug;42(4):252-260. doi: 10.1016/j.bj.2019.03.003.
MORENO-GRAU S, DE ROJAS I, HERNÁNDEZ I, et al. Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project. Alzheimers Dement. 2019 Oct;15(10):1333-1347. doi: 10.1016/j.jalz.2019.06.4950.
VELÁZQUEZ C, ESTEBAN-CARDEÑOSA EM, LASTRA E, et al. Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer. Mol Carcinog. 2019 Jan;58(1):156-160. doi: 10.1002/mc.22910
PALENCIA-MADRID L, SÁNCHEZ-VALLE R, FERNÁNDEZ DE RETANA I, et al. A unique common ancestor introduced P301L mutation in MAPT gene in frontotemporal dementia patients from Barcelona (Baix Llobregat, Spain). Neurobiol Aging. 2019 Aug 21. pii: S0197-4580(19)30293-3. doi: 10.1016/j.neurobiolaging.2019.08.015
ORDOÑANA JR, CARRILLO E, COLODRO-CONDE L, et al. An Update of Twin Research in Spain: The Murcia Twin Registry. Twin Res Hum Genet. 2019 Sep 10:1-5. doi: 10.1017/thg.2019.60.
VALLEJO F, YUSTE JE, TERUEL-MONTOYA R, et al. First exploratory study on the metabolome from plasma exosomes in patients with paroxysmal nocturnal hemoglobinuria. Thromb Res. 2019 Oct 28;183:80-85. doi: 10.1016/j.thromres.2019.10.001
BARRIO PA, MARTÍN P, ALONSO A, et al; DNASEQEX Consortium. Massively parallel sequence data of 31 autosomal STR loci from 496 Spanish individuals revealed concordance with CE-STR technology and enhanced discrimination power. Forensic Sci Int Genet. 2019 Sep;42:49-55. doi: 10.1016/j.fsigen.2019.06.009. Epub 2019 Jun 14
ATERIDO A, PALAU N, DOMÈNECH E,et al. Genetic association between CD96 locus and immunogenicity to anti-TNF therapy in Crohn's disease. Pharmacogenomics J. 2019 May 2. doi: 10.1038/s41397-019-0090-4.
MUÑOZ-GONZÁLEZ JI, ÁLVAREZ-TWOSE I, JARA-ACEVEDO M, et al. Frequency and prognostic impact of KIT and other genetic variants in indolent systemic mastocytosis. Blood. 2019 Aug 1;134(5):456-468. doi: 10.1182/blood.2018886507.
NICOLETTI P, BARRETT S, MCEVOY L, et al. Shared Genetic Risk Factors Across Carbamazepine-Induced Hypersensitivity Reactions. Clin Pharmacol Ther. 2019 May 7. doi: 10.1002/cpt.1493
FERNÁNDEZ-SANTIAGO R, MARTÍN-FLORES N, ANTONELLI F, et al; International Parkinson's Disease Genomics Consortium, Martí MJ, Ezquerra M, Malagelada C. SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson's Disease. Mov Disord. 2019 Jun 24. doi: 10.1002/mds.27770.
BARRIO PA, MARTÍN P, ALONSO A, et al; DNASEQEX Consortium. Massively parallel sequence data of 31 autosomal STR loci from 496 Spanish individuals revealed concordance with CE-STR technology and enhanced discrimination power. Forensic Sci Int Genet. 2019 Jun 14;42:49-55. doi: 10.1016/j.fsigen.2019.06.009.
VEGA ALONSO AT, ORDAX DÍEZ A, LOZANO ALONSO JE, et al; en nombre del grupo de investigación del estudio del Riesgo de enfermedad cardiovascular en Castilla y León. Validation of the SCORE index and SCORE for old people in the Castilla y Léon cardiovascular disease risk cohort. Hipertens Riesgo Vasc. 2019 Mar 26. pii: S1889-1837(19)30017-0. doi: 10.1016/j.hipert.2019.02.002
NICOLETTI P, AITHAL GP, CHAMBERLAIN TC, et al; Drug-Induced Liver Injury due to Flucloxacillin: Relevance of Multiple Human Leukocyte Antigen Alleles. International Drug-Induced Liver Injury Consortium (iDILIC). Clin Pharmacol Ther. 2019 Jul;106(1):245-253. doi: 10.1002/cpt.1375
ATERIDO A, CAÑETE JD, TORNERO J, et al. Genetic variation at the glycosaminoglycan metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasis. Ann Rheum Dis. 2019 Mar;78(3). pii: e214158. doi: 10.1136/annrheumdis-2018-214158.
BYCROFT C, FERNANDEZ-ROZADILLA C, RUIZ-PONTE C, et al. Patterns of genetic differentiation and the footprints of historical migrations in the Iberian Peninsula.Nat Commun. 2019 Feb 1;10(1):551. doi: 10.1038/s41467-018-08272-w.
UMBRIA M, RAMOS A, CANER J, et al. Involvement of mitochondrial haplogroups in myocardial infarction and stroke: A case-control study in Castile and Leon (Spain) population. Mitochondrion. 2019 Jan;44:1-6. doi: 10.1016/j.mito.2017.12.004
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. 2019 Jan;133(1):17-23. doi: 10.1007/s00414-018-1936-z
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. 2019 Feb;43:91-96. doi: 10.1016/j.breast.2018.11.010.
ANALES JM, IÑARRAIRAEGUI M, ARBELAIZ A, et al. Serum Metabolites as Diagnostic Biomarkers for Cholangiocarcinoma, Hepatocellular Carcinoma, and Primary Sclerosing Cholangitis. Hepatology. 2019 Aug;70(2):547-562. doi: 10.1002/hep.30319
TERUEL-MONTOYA R, LUENGO-GIL G, VALLEJO F, et al. Differential miRNA expression profile and proteome in plasma exosomes from patients with paroxysmal nocturnal hemoglobinuria Sci Rep. 2019 Mar 5;9(1):3611. doi: 10.1038/s41598-019-40453-5.
MONTALBAN G, BONACHE S, MOLES-FERNÁNDEZ A, et al. Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer. J Med Genet. 2018 Nov 24. pii: jmedgenet-2018-105606. doi: 10.1136/jmedgenet-2018-105606.
ATERIDO A, CAÑETE JD, TORNERO J, et al. Genetic variation at the glycosaminoglycan metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasis. Ann Rheum Dis. 2018 Dec 14. pii: annrheumdis-2018-214158. doi: 10.1136/annrheumdis-2018-214158.
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.
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Universidad de Salamanca
Nucleus
PRB2
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
Teléfono de contacto: 923294500. Ext. 5473
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