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 (28)
2024
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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
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
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
2014
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A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis
PLoS ONE, Vol. 9, Núm. 6
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Infections, antibiotic treatment and mortality in patients admitted to ICUs in countries considered to have high levels of antibiotic resistance compared to those with low levels
BMC Infectious Diseases, Vol. 14, Núm. 1
2012
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Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain
Molecular Genetics and Metabolism, Vol. 106, Núm. 2, pp. 196-201
2011
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Invasive fungal infections in onco-haematology: A spanish perspective
Revista Espanola de Quimioterapia, Vol. 24, Núm. 3, pp. 168-172
2010
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Recommendations and management of type i hereditary or hepatorenal tyrosinemia
Anales de Pediatria, Vol. 73, Núm. 5
2009
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Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)
Human Mutation, Vol. 30, Núm. 11, pp. 1558-1566
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Predischarge morbidities in extremely and very low-birth-weight infants in Spanish neonatal units
American Journal of Perinatology, Vol. 26, Núm. 5, pp. 335-343