Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia e Pediatría
Departamento
Hospital Universitari Germans Trias i Pujol
Barcelona, EspañaPublicacións en colaboración con investigadores/as de Hospital Universitari Germans Trias i Pujol (34)
2024
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A genome-wide association meta-analysis of all-cause and vascular dementia
Alzheimer's and Dementia, Vol. 20, Núm. 9, pp. 5973-5995
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An Insertion Within SIRPβ1 Shows a Dual Effect Over Alzheimer's Disease Cognitive Decline Altering the Microglial Response
Journal of Alzheimer's Disease, Vol. 98, Núm. 2, pp. 601-618
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Evaluation of Genetic Variants Associated with the Risk of Thiopurine-Related Pancreatitis: A Case Control Study from ENEIDA Registry
Digestive Diseases, Vol. 42, Núm. 3, pp. 257-264
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Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children
The Journal of experimental medicine, Vol. 221, Núm. 2
2023
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Expert consensus on the integrated diagnosis of idiopathic multicentric Castleman disease
Revista Espanola de Patologia, Vol. 56, Núm. 3, pp. 158-167
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Lung UltrasouNd Guided surfactant therapy in preterm infants: an international multicenter randomized control trial (LUNG study)
Trials, Vol. 24, Núm. 1
2022
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Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers
Acta Neuropathologica, Vol. 144, Núm. 5, pp. 821-842
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Lung Ultrasound Scores Progress Differently in Extreme and Very Preterm Infants after Birth: A Multicentre Prospective Study
Neonatology, Vol. 119, Núm. 5, pp. 558-566
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Risk factors and bronchopulmonary dysplasia severity: data from the Spanish Bronchopulmonary Dysplasia Research Network
European Journal of Pediatrics, Vol. 181, Núm. 2, pp. 789-799
2021
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Adverse prognostic impact of complex karyotype (≥3 cytogenetic alterations) in adult T-cell acute lymphoblastic leukemia (T-ALL)
Leukemia Research, Vol. 109
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Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
2019
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Erratum to: Germline variation at 8q24 and prostate cancer risk in men of European ancestry (Nature Communications, (2018), 9, 1, (4616), 10.1038/s41467-018-06863-1)
Nature Communications
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Real life outcomes of patients aged ≥75 years old with acute promyelocytic leukemia: experience of the PETHEMA registry
Leukemia and Lymphoma, Vol. 60, Núm. 11, pp. 2720-2732
2018
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Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program
Molecular Genetics and Metabolism Reports, Vol. 15, pp. 116-120
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Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants
Nature Communications, Vol. 9, Núm. 1
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Frequency and prognostic significance of additional cytogenetic abnormalities to the Philadelphia chromosome in young and older adults with acute lymphoblastic leukemia
Leukemia and Lymphoma, Vol. 59, Núm. 1, pp. 146-154
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Germline variation at 8q24 and prostate cancer risk in men of European ancestry
Nature Communications, Vol. 9, Núm. 1
2015
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Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype (J Inherit Metab Dis, 10.1007/s10545-015-9840-x)
Journal of Inherited Metabolic Disease
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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Journal of Inherited Metabolic Disease, Vol. 38, Núm. 6, pp. 1059-1074