Publicaciones en colaboración con investigadores/as de Hospital Universitario La Paz (9)

2019

  1. Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis

    Scientific Reports, Vol. 9, Núm. 1

  2. Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases

    Journal of Allergy and Clinical Immunology, Vol. 143, Núm. 1, pp. 359-368

2018

  1. Blau Syndrome–Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series

    American Journal of Ophthalmology, Vol. 187, pp. 158-166

  2. S100A12 and S100A8/9 proteins are biomarkers of articular disease activity in Blau syndrome

    Rheumatology (United Kingdom), Vol. 57, Núm. 7, pp. 1299-1304

2015

  1. Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency

    Pediatric Rheumatology, Vol. 13, Núm. 1

2014

  1. Detection of synovitis by ultrasonography in clinically inactive juvenile idiopathic arthritis on and off medication

    Clinical and Experimental Rheumatology, Vol. 32, Núm. 4, pp. 597-603

  2. The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: A series of 158 cases from the Eurofever/EUROTRAPS international registry

    Annals of the Rheumatic Diseases, Vol. 73, Núm. 12, pp. 2160-2167

2009

  1. NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: Study of an international registry and a national cohort in Spain

    Arthritis and Rheumatism, Vol. 60, Núm. 6, pp. 1797-1803

2007

  1. NOD2 gene-associated pediatric granulomatous arthritis: Clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort

    Arthritis and Rheumatism, Vol. 56, Núm. 11, pp. 3805-3813