A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis
Arostegui, JI, Rabionet, R, Remesal, A, Mensa-Vilaro, A, Murias, S, Alcobendas, R, Gonzalez-Roca, E, Dreschsel, O, Ruiz-Ortiz, E, Puig, A, Comas, D, Ossowski, S, Yagüe, J, Estivill, X, Merino, R
Published in Pediatric rheumatology online journal (28.09.2015)
Published in Pediatric rheumatology online journal (28.09.2015)
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Journal Article
Late onset of the cryopyrin-associated periodic syndrome (CAPS) associated with low level of somatic mosaicism in six patients
Rowczenio, D, Gomes, S Melo, Aróstegui, J, Omoyinmi, E, Gonzalez-Roca, E, Standing, A, Eleftheriou, D, Klein, N, Brogan, P, Lachmann, H, Hawkins, P
Published in Pediatric rheumatology online journal (28.09.2015)
Published in Pediatric rheumatology online journal (28.09.2015)
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Journal Article
Development of a workflow to analyze autoinflammatory-associated genes using AccessArray™ system and next generation sequencing
Gonzalez-Roca, E, Ruiz-Ortiz, E, Anton, MC, Plaza, S, Mensa-Vilaro, A, Yagüe, J, Arostegui, JI
Published in Pediatric rheumatology online journal (28.09.2015)
Published in Pediatric rheumatology online journal (28.09.2015)
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Journal Article
Somatic NLRP3 mosaicism in Muckle-Wells syndrome
Gonzalez-Roca, E, Mensa-Vilaro, A, Plaza, S, Anton, MC, Rius, J, Ruiz-Ortiz, E, Campistol, JM, Souto, A, Cañellas, J, Nakagawa, K, Nishikomori, R, Yagüe, J, Arostegui, JI
Published in Pediatric rheumatology online journal (28.09.2015)
Published in Pediatric rheumatology online journal (28.09.2015)
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Journal Article