Development of a workflow to analyze autoinflammatory-associated genes using AccessArray™ system and next generation sequencing

por Gonzalez-Roca, E, Ruiz-Ortiz, E, Anton, MC, Plaza, S, Mensa-Vilaro, A, Yagüe, J, Arostegui, JI
Publicado 2015

P02-021 - Atypical CAPS consequence of novel NLPR3 mutations

por Gonzalez-Roca, E, Espinosa, G, Bartra, J, Ruiz-Ortiz, E, Rius, J, Plaza, S, Yague, J, Arostegui, JI
Publicado 2013

PW02-024-B - First report of AA amyloidosis in Blau syndrome

por Ruiz-Ortiz, E, Saurina, A, González-Roca, E, Solé, M, Modesto, C, Rius, F, Plaza, S, Yagüe, J, Aróstegui, JI
Publicado 2013

P02-002 - IL36RN mutations in patients with DITRA

por Arostegui, JI, Vicente-Villa, MA, Chaves, A, Gonzalez-Roca, E, Ruiz-Ortiz, E, Rius, J, Plaza, S, Gonzalez-Enseñat, MA, Yague, J
Publicado 2013

Late onset of the cryopyrin-associated periodic syndrome (CAPS) associated with low level of somatic mosaicism in six patients

por Rowczenio, D, Gomes, S Melo, Aróstegui, J, Omoyinmi, E, Gonzalez-Roca, E, Standing, A, Eleftheriou, D, Klein, N, Brogan, P, Lachmann, H, Hawkins, P
Publicado 2015

Description of a case of late-onset cryopyrin-associated periodic syndrome due to low-level somatic NLRP3 mosaicism

por 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
Publicado 2015

Somatic NLRP3 mosaicism in Muckle-Wells syndrome

por 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
Publicado 2015

A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis

por 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
Publicado 2015

NOD2 mosaicism in Blau syndrome

por 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
Publicado 2015

Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency

por 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
Publicado 2015