Ciencias
Campo de conocimiento
Hospital Clinic Barcelona
Barcelona, EspañaPublicaciones en colaboración con investigadoras/es de Hospital Clinic Barcelona (21)
2023
2022
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Diverse mutations and structural variations contribute to Notch signaling deregulation in paediatric T-cell lymphoblastic lymphoma
Pediatric Blood and Cancer, Vol. 69, Núm. 11
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Identification of the genetic mechanism that associates L3MBTL3 to multiple sclerosis
Human Molecular Genetics, Vol. 31, Núm. 13, pp. 2155-2163
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Pre-operative ribociclib plus letrozole versus chemotherapy: Health-related quality of life outcomes from the SOLTI CORALLEEN trial
European Journal of Cancer, Vol. 174, pp. 232-242
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Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome
Journal of Medical Genetics, Vol. 59, Núm. 3, pp. 253-261
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RICORS2040: The need for collaborative research in chronic kidney disease
Clinical Kidney Journal, Vol. 15, Núm. 3, pp. 372-387
2017
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Stem cell-like transcriptional reprogramming mediates metastatic resistance to mTOR inhibition
Oncogene, Vol. 36, Núm. 19, pp. 2737-2749
2016
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PCSK9 and lipoprotein (a) levels are two predictors of coronary artery calcification in asymptomatic patients with familial hypercholesterolemia
Atherosclerosis, Vol. 254, pp. 249-253
2015
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A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis
Human Molecular Genetics, Vol. 24, Núm. 19, pp. 5619-5627
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Detection of chromothripsis-like patterns with a custom array platform for chronic lymphocytic leukemia
Genes Chromosomes and Cancer, Vol. 54, Núm. 11, pp. 668-680
2014
2013
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A trifluoromethyl analogue of celecoxib exerts beneficial effects in neuroinflammation
PLoS ONE, Vol. 8, Núm. 12
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Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis
Journal of Medical Genetics, Vol. 50, Núm. 1, pp. 25-33
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Predictors of hospital admission in exacerbations of chronic obstructive pulmonary disease
International Journal of Tuberculosis and Lung Disease, Vol. 17, Núm. 12
2012
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ANKRD55 and DHCR7 are novel multiple sclerosis risk loci
Genes and Immunity, Vol. 13, Núm. 3, pp. 253-257
2011
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Replication of top markers of a genome-wide association study in multiple sclerosis in Spain
Genes and Immunity, Vol. 12, Núm. 2, pp. 110-115
2010
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Liver-specific deletion of prohibitin 1 results in spontaneous liver injury, fibrosis, and hepatocellular carcinoma in mice
Hepatology, Vol. 52, Núm. 6, pp. 2096-2108
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Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
Proceedings of the National Academy of Sciences of the United States of America, Vol. 107, Núm. 7, pp. 3105-3110
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The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis
Genes and Immunity, Vol. 11, Núm. 5, pp. 439-445
2008
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Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia
Cancer Research, Vol. 68, Núm. 24, pp. 10178-10186