Grupo de genetica y epigenetica de enfermedades complejas
Hospital de Cruces
Barakaldo, EspañaPublikationen in Zusammenarbeit mit Forschern von Hospital de Cruces (96)
2024
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ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies
Blood, Vol. 144, Núm. 11, pp. 1193-1205
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Cancer is not a risk factor for severe COVID-19 in children, except in patients with recent allogeneic hematopoietic stem cell transplantation or comorbidities
Pediatric Blood and Cancer, Vol. 71, Núm. 8
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CircRNAome of Childhood Acute Lymphoblastic Leukemia: Deciphering Subtype-Specific Expression Profiles and Involvement in TCF3::PBX1 ALL
International Journal of Molecular Sciences, Vol. 25, Núm. 3
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The ECHO recommendations for dealing with vinblastine shortage affecting standard treatment of systemic Langerhans cell histiocytosis
Pediatric Blood and Cancer
2023
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Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas
Translational Pediatrics, Vol. 12, Núm. 9, pp. 1715-1724
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How do hospitalised children die? The context of death and end-of-life decision-making
Journal of Paediatrics and Child Health, Vol. 59, Núm. 4, pp. 625-630
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Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing
Scientific Reports, Vol. 13, Núm. 1
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Key Genes of the Immune System and Predisposition to Acquired Hemophilia A: Evidence from a Spanish Cohort of 49 Patients Using Next-Generation Sequencing
International Journal of Molecular Sciences, Vol. 24, Núm. 22
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Molecular characterisation defines clinically-actionable heterogeneity within Group 4 medulloblastoma and improves disease risk-stratification
Acta Neuropathologica, Vol. 145, Núm. 5, pp. 651-666
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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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A Three-Protein Panel to Support the Diagnosis of Sepsis in Children
Journal of Clinical Medicine, Vol. 11, Núm. 6
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Clinical management of the acute complications of sickle cell anemia: 11 years of experience in a tertiary hospital
Anales de Pediatria, Vol. 97, Núm. 1, pp. 4-11
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Current status of precision medicine in pediatric oncology in Spain: a consensus report by the Spanish Society of Paediatric Haematology and Oncology (SEHOP)
Clinical and Translational Oncology, Vol. 24, Núm. 5, pp. 809-815
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Identification and Functional Analysis of a Novel CTNNB1 Mutation in Pediatric Medulloblastoma
Cancers, Vol. 14, Núm. 2
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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
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Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric Cancer
Cancers, Vol. 14, Núm. 23
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Tapering of the thrombopoietin receptor agonist in paediatric patients with chronic immune thrombocytopenia: Is it possible?
British Journal of Clinical Pharmacology, Vol. 88, Núm. 9, pp. 4220-4223
2021
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Etoposide for Cytokine Storm Because of Coronavirus Disease 2019
Chest
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Importance of timely treatment initiation in infantile-onset pompe disease, a single-centre experience
Children, Vol. 8, Núm. 11
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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