Departamento de Ciencias Forenses, Anatomía Patológica, Ginecología y Obstetricia y Pediatría
Departamento
Instituto de Investigación Sanitaria del Hospital Universitario La Paz
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Instituto de Investigación Sanitaria del Hospital Universitario La Paz (31)
2024
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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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Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2
Communications biology, Vol. 7, Núm. 1, pp. 202
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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
2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))
Nature communications
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Erratum: Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19 (Nature (2023) 617 7962 (764-768))
Nature
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GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19
Nature, Vol. 617, Núm. 7962, pp. 764-768
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HLA-A*11:01 and HLA-C*04:01 are associated with severe COVID-19
HLA, Vol. 102, Núm. 6, pp. 731-739
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Is SARS-COV-2 associated with alpha-1 antitrypsin deficiency?
Journal of Thoracic Disease, Vol. 15, Núm. 2, pp. 711-717
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Psychiatric polygenic risk as a predictor of COVID-19 risk and severity: insight into the genetic overlap between schizophrenia and COVID-19
Translational Psychiatry, Vol. 13, Núm. 1
2022
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A genome-wide association study of survival in patients with sepsis
Critical Care, Vol. 26, Núm. 1
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
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Risk scores for Kawasaki disease, a management tool developed by the KAWA-RACE cohort
Clinical Rheumatology, Vol. 41, Núm. 12, pp. 3759-3768
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Severity of COVID-19 attributable to obesity according to BMI and CUN-BAE
Semergen, Vol. 48, Núm. 8, pp. 6
2021
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Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
Nature communications, Vol. 12, Núm. 1, pp. 3417
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Interferon-Gamma Release Assays Differentiate between Mycobacterium avium Complex and Tuberculous Lymphadenitis in Children
Journal of Pediatrics, Vol. 236, pp. 211-218.e2
2019
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AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)
Annals of Neurology, Vol. 85, Núm. 5, pp. 740-751
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Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2)
Nature Genetics
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Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain
Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626
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Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment
Journal of Clinical Medicine, Vol. 8, Núm. 11