25 results on '"Yagüe Jordi"'
Search Results
2. First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism
3. Calprotectin more accurately discriminates the disease status of rheumatoid arthritis patients receiving tocilizumab than acute phase reactants
4. Towards optimal cut-off trough levels of adalimumab and etanercept for a good therapeutic response in rheumatoid arthritis. Results of the INMUNOREMAR study
5. Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes
6. DNA demethylation of inflammasome-associated genes is enhanced in patients with cryopyrin-associated periodic syndromes
7. Somatic NOD2 mosaicism in Blau syndrome
8. First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes
9. Atypical neuropathological sCJD-MM phenotype with abundant white matter Kuru-type plaques sparing the cerebellar cortex
10. Association of NOS2 and potential effect of VEGF, IL6, CCL2 and IL1RN polymorphisms and haplotypes on susceptibility to GCA—a simultaneous study of 130 potentially functional SNPs in 14 candidate genes
11. Inherited prion disease with 4-octapeptide repeat insertion linked to valine at codon 129
12. High Incidence of NLRP3 Somatic Mosaicism in Patients With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome: Results of an International Multicenter Collaborative Study
13. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia
14. A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases
15. NOD2-Associated pediatric granulomatous arthritis, an expanding phenotype: Study of an international registry and a national cohort in spain
16. Pyogenic Bacterial Infections in Humans with MyD88 Deficiency
17. First demonstrated de novo insertion in the prion protein gene in a young patient with dementia
18. MEFV mutations and palindromic rheumatism: Comment on the article by Cañete et al
19. 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
20. An Unexpectedly High Frequency of MEFV Mutations in Patients With Anti-Citrullinated Protein Antibody-Negative Palindromic Rheumatism
21. Association of intermittent hydrarthrosis with MEFV gene mutations
22. Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family
23. Clinical and Genetic Heterogeneity Among Spanish Patients With Recurrent Autoinflammatory Syndromes Associated With the CIAS1/PYPAF1/NALP3 Gene
24. Heterogeneity Among Patients With Tumor Necrosis Factor Receptor–Associated Periodic Syndrome Phenotypes
25. DYNAMIC PATTERN OF ENDOTHELIAL CELL ADHESION MOLECULE EXPRESSION IN MUSCLE AND PERINEURAL VESSELS FROM PATIENTS WITH CLASSIC POLYARTERITIS NODOSA
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