1. A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis. Issue 1 (December 2015) Authors: 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 Journal: Pediatric rheumatology online journal Issue: Volume 13:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis. Issue 1 (December 2015) Authors: 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 Journal: Pediatric rheumatology online journal Issue: Volume 13:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency. Issue 1 (December 2015) Authors: 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 Journal: Pediatric rheumatology online journal Issue: Volume 13:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency. Issue 1 (December 2015) Authors: 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 Journal: Pediatric rheumatology online journal Issue: Volume 13:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Description of a case of late-onset cryopyrin-associated periodic syndrome due to low-level somatic NLRP3 mosaicism. Issue 1 (December 2015) Authors: 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 Journal: Pediatric rheumatology online journal Issue: Volume 13:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Description of a case of late-onset cryopyrin-associated periodic syndrome due to low-level somatic NLRP3 mosaicism. Issue 1 (December 2015) Authors: 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 Journal: Pediatric rheumatology online journal Issue: Volume 13:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Development of a workflow to analyze autoinflammatory-associated genes using AccessArray™ system and next generation sequencing. Issue 1 (December 2015) Authors: Gonzalez-Roca, E; Ruiz-Ortiz, E; Anton, MC; Plaza, S; Mensa-Vilaro, A; Yagüe, J; Arostegui, JI Journal: Pediatric rheumatology online journal Issue: Volume 13:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. NOD2 mosaicism in Blau syndrome. Issue 1 (December 2015) Authors: Mensa-Vilaro, A; De Inocencio, J; Cham, W; Gonzalez-Roca, E; Tejada-Palacios, P; Tang, S; Ruiz-Ortiz, E; Enriquez-Merayo, E; Lim, S; Magri, G; Plaza, S; Anton, MC; Cerutti, A; Ariffin, R; Yagüe, J; Arostegui, JI Journal: Pediatric rheumatology online journal Issue: Volume 13:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. NOD2 mosaicism in Blau syndrome. Issue 1 (December 2015) Authors: Mensa-Vilaro, A; De Inocencio, J; Cham, W; Gonzalez-Roca, E; Tejada-Palacios, P; Tang, S; Ruiz-Ortiz, E; Enriquez-Merayo, E; Lim, S; Magri, G; Plaza, S; Anton, MC; Cerutti, A; Ariffin, R; Yagüe, J; Arostegui, JI Journal: Pediatric rheumatology online journal Issue: Volume 13:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Somatic NLRP3 mosaicism in Muckle-Wells syndrome. Issue 1 (December 2015) Authors: 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 Journal: Pediatric rheumatology online journal Issue: Volume 13:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗