Grupo de genetica y epigenetica de enfermedades complejas
Hospital Universitario de Donostia
San Sebastián, EspañaPublicaciones en colaboración con investigadoras/es de Hospital Universitario de Donostia (37)
2024
2023
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Edema lumbar como primera manifestación en púrpura de Schönlein-Henoch
Boletín de la Sociedad Vasco-Navarra de pediatría = Euskal Herriko Pediatria Elkartearen aldizkaria, Núm. 124, pp. 106-106
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microRNA sequencing for biomarker detection in the diagnosis, classification and prognosis of Diffuse Large B Cell Lymphoma
Scientific reports, Vol. 13, Núm. 1, pp. 12159
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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El cribado de hemoglobinopatías
Boletín de la Sociedad Vasco-Navarra de pediatría = Euskal Herriko Pediatria Elkartearen aldizkaria, Núm. 123, pp. 97-99
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Neuroblastoma in Spain: Linking the national clinical database and epidemiological registries – A study by the Joint Action on Rare Cancers
Cancer Epidemiology, Vol. 78
2021
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Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes
Molecular Therapy - Methods and Clinical Development, Vol. 22, pp. 66-75
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Prognostic and therapeutic value of somatic mutations in diffuse large B-cell lymphoma: A systematic review
Critical Reviews in Oncology/Hematology, Vol. 165
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Protein Tyrosine Phosphatases in Neuroblastoma: Emerging Roles as Biomarkers and Therapeutic Targets
Frontiers in Cell and Developmental Biology, Vol. 9
2020
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Role of rs10406069 in miR-5196 in hyperdiploid childhood acute lymphoblastic leukemia
Epigenomics, Vol. 12, Núm. 22, pp. 1949-1955
2019
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Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia
Nature Medicine, Vol. 25, Núm. 9, pp. 1396-1401
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Variants in vincristine pharmacodynamic genes involved in neurotoxicity at induction phase in the therapy of pediatric acute lymphoblastic leukemia
Pharmacogenomics Journal, Vol. 19, Núm. 6, pp. 564-569
2018
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Involvement of SNPs in miR-3117 and miR-3689d2 in childhood acute lymphoblastic leukemia risk
Oncotarget, Vol. 9, Núm. 33, pp. 22907-22914
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Involvement of miRNA polymorphism in mucositis development in childhood acute lymphoblastic leukemia treatment
Pharmacogenomics, Vol. 19, Núm. 18, pp. 1403-1412
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Mir-pharmacogenetics of Vincristine and peripheral neurotoxicity in childhood B-cell acute lymphoblastic leukemia
Pharmacogenomics Journal, Vol. 18, Núm. 6, pp. 704-712
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Pharmacoepigenetics in childhood acute lymphoblastic leukemia: Involvement of miRNA polymorphisms in hepatotoxicity
Epigenomics, Vol. 10, Núm. 4, pp. 409-417
2017
2016
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A systematic review and meta-analysis of MDM2 polymorphisms in osteosarcoma susceptibility
Pediatric Research, Vol. 80, Núm. 4, pp. 472-479
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High Body Mass Index as a Risk Factor for Hospitalization Due to Influenza: A Case-Control Study
Archivos de Bronconeumologia, Vol. 52, Núm. 6, pp. 299-307
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Lack of association of the CEP72 RS924607 TT genotype with vincristine-related peripheral neuropathy during the early phase of pediatric acute lymphoblastic leukemia treatment in a Spanish population
Pharmacogenetics and Genomics, Vol. 26, Núm. 2, pp. 100-102