Instituto Universitario de Tecnologías Biomédicas
Institut d'investigació
Necker-Enfants Malades Hospital
París, FranciaPublicacions en col·laboració amb investigadors/es de Necker-Enfants Malades Hospital (15)
2023
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Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
Nature, Vol. 623, Núm. 7988, pp. 803-813
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Pathophysiology of bone disease in chronic kidney disease: from basics to renal osteodystrophy and osteoporosis
Frontiers in Physiology
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Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Genome Medicine, Vol. 15, Núm. 1
2022
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A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection
Nature Immunology, Vol. 23, Núm. 2, pp. 159-164
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Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis
Journal of Clinical Immunology
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Silver jubilee: 25 years of the first demonstration of the direct effect of phosphate on the parathyroid cell
Nefrologia, Vol. 42, Núm. 6, pp. 645-655
2021
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
Autophagy, Vol. 17, Núm. 1, pp. 1-382
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HLA-D and PLA2R1 risk alleles associate with recurrent primary membranous nephropathy in kidney transplant recipients
Kidney International, Vol. 99, Núm. 3, pp. 671-685
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Hyporesponsiveness or resistance to the action of parathyroid hormone in chronic kidney disease
Nefrologia, Vol. 41, Núm. 5, pp. 514-528
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X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19
Science immunology, Vol. 6, Núm. 62
2020
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Autoantibodies against type I IFNs in patients with life-threatening COVID-19
Science, Vol. 370, Núm. 6515
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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Science, Vol. 370, Núm. 6515
2019
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EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome
Blood, Vol. 134, Núm. 3, pp. 277-290
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Pentoxifylline for renal protection in diabetic kidney disease. A model of old drugs for new horizons
Journal of Clinical Medicine, Vol. 8, Núm. 3
2018
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Increased expression of ATP12A proton pump in cystic fibrosis airways
JCI insight, Vol. 3, Núm. 20