AB0002 Analysis of nlrp3 and nod2 genes in adult onset still’s disease
Garcia-Melchor, E., Grados, D., González-Roca, E., Riera, E., Juan, M., Yagüe, J., Arostegui, J. I., Narváez, J., Olivé, A.
Published in Annals of the rheumatic diseases (01.06.2013)
Published in Annals of the rheumatic diseases (01.06.2013)
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Journal Article
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
Description of a case of late-onset cryopyrin-associated periodic syndrome due to low-level somatic NLRP3 mosaicism
Mensa-Vilaro, A, Bosque-Peralta, MT, Gonzalez-Roca, E, Casorran-Berges, M, Delgado-Beltran, C, Plaza, S, Anton, MC, Ruiz-Ortiz, E, 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
NOD2 mosaicism in Blau syndrome
Mensa-Vilaro, A, De Inocencio, J, Cham, W Tarng, Gonzalez-Roca, E, Tejada-Palacios, P, Tang, S Ping, Ruiz-Ortiz, E, Enriquez-Merayo, E, Lim, S Chin, Magri, G, Plaza, S, Anton, MC, Cerutti, A, Ariffin, 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
Estudio de las lesiones citogenéticas en el carcinoma escamoso cutáneo mediante la técnica de arrays de hibridación genómica comparada
Salgado, R, Toll, A, Espinet, B, González-Roca, E, Barranco, C.L, Serrano, S, Solé, F, Pujol, R.M
Published in Actas dermo-sifiliográficas (01.04.2008)
Published in Actas dermo-sifiliográficas (01.04.2008)
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Journal Article
Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency
Ruiz-Ortiz, E, Gonzalez-Roca, E, Mensa-Vilaro, A, Rius, J, Plaza, S, Anton, C, Calvo, I, Modesto, C, Anton, J, Arnal, C, Alvarez, C, Alvarez-Coca, J, Becerra, E, Bilbao, N, Camacho, M, Crespo, J, de Diego, C, Diez-Garcia, LF, Espinosa, L, Garcia-Escriva, D, de Gracia, F, Gonzalez, MI, Iglesias, E, Izquierdo, S, Lastra, B, Llobet, P, Lopez, B, Lopez-Gonzalez, V, Martinez, R, Martin-Mateos, MA, Merino, R, Ortega, L, Peiro, ME, de Soto, I Perez, Perez-Mendez, C, Rodriguez-Valverde, V, Ribes, A, Ruiz, A, Sanchez, B, Santos, JL, Sevilla, B, Sotoca, J, Vilas, J, Villoria, 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
Analysis of cytogenetic abnormalities in squamous cell carcinoma by array comparative genomic hybridization
Salgado, R, Toll, A, Espinet, B, González-Roca, E, Barranco, C L, Serrano, S, Solé, F, Pujol, R M
Published in Actas dermo-sifiliográficas (01.04.2008)
Published in Actas dermo-sifiliográficas (01.04.2008)
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Journal Article
PW02-024-B - First report of AA amyloidosis in Blau syndrome
Ruiz-Ortiz, E, Saurina, A, González-Roca, E, Solé, M, Modesto, C, Rius, F, Plaza, S, Yagüe, J, Aróstegui, JI
Published in Pediatric rheumatology online journal (08.11.2013)
Published in Pediatric rheumatology online journal (08.11.2013)
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Journal Article
Analysis of Cytogenetic Abnormalities in Squamous Cell Carcinoma by Array Comparative Genomic Hybridization
Salgado, R., Toll, A., Espinet, B., González-Roca, E., Barranco, C.L., Serrano, S., Solé, F., Pujol, R.M.
Published in Actas dermo-sifiliográficas (English ed.) (2008)
Published in Actas dermo-sifiliográficas (English ed.) (2008)
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Journal Article
Novel evidences of atypical manifestations in cryopyrin-associated periodic syndromes
Bujan-Rivas, Segundo, Basagaña, Maria, Sena, Francisca, Méndez, Maria, Dordal, Maria Teresa, Gonzalez-Roca, Eva, Ruiz-Ortiz, Estibaliz, Mensa-Vilaró, Anna, Plaza, Susana, Modesto, Consuelo, Ordi-Ros, Josep, Yagüe, Jordi, Martínez-Valle, Ferrán, Aróstegui, Juan Ignacio
Published in Clinical and experimental rheumatology (01.11.2017)
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Published in Clinical and experimental rheumatology (01.11.2017)
Journal Article
P02-021 - Atypical CAPS consequence of novel NLPR3 mutations
Gonzalez-Roca, E, Espinosa, G, Bartra, J, Ruiz-Ortiz, E, Rius, J, Plaza, S, Yague, J, Arostegui, JI
Published in Pediatric rheumatology online journal (08.11.2013)
Published in Pediatric rheumatology online journal (08.11.2013)
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Journal Article
P02-002 - IL36RN mutations in patients with DITRA
Arostegui, JI, Vicente-Villa, MA, Chaves, A, Gonzalez-Roca, E, Ruiz-Ortiz, E, Rius, J, Plaza, S, Gonzalez-Enseñat, MA, Yague, J
Published in Pediatric Rheumatology (08.11.2013)
Published in Pediatric Rheumatology (08.11.2013)
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Journal Article