1. A case series of adenosine deaminase 2 deficient patients emphasizing treatment and genotype-phenotype correlations. Issue 1 (December 2015) Authors: Batu, ED; Karadag, O; Taskiran, EZ; Kalyoncu, U; Aksentijevich, I; Alikasifoglu, M; Ozen, S 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 case series of adenosine deaminase 2 deficient patients emphasizing treatment and genotype-phenotype correlations. Issue 1 (December 2015) Authors: Batu, ED; Karadag, O; Taskiran, EZ; Kalyoncu, U; Aksentijevich, I; Alikasifoglu, M; Ozen, S 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. A dominantly-inherited Behcet-like disorder caused by haploinsufficiency of the TNFAIP3/A20 protein. Issue 1 (December 2015) Authors: Zhou, Q; Wang, H; Chae, J; Yang, D; Demirkaya, E; Stoffels, M; Takeuchi, M; Chen, C; Ombrello, A; Schwartz, D; Hoffmann, P; Stone, D; Laxer, R; Royen-Kerkhof, AV; Ozen, S; Gadina, M; Kastner, D; Aksentijevich, I 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. A dominantly-inherited Behcet-like disorder caused by haploinsufficiency of the TNFAIP3/A20 protein. Issue 1 (December 2015) Authors: Zhou, Q; Wang, H; Chae, J; Yang, D; Demirkaya, E; Stoffels, M; Takeuchi, M; Chen, C; Ombrello, A; Schwartz, D; Hoffmann, P; Stone, D; Laxer, R; Royen-Kerkhof, AV; Ozen, S; Gadina, M; Kastner, D; Aksentijevich, I 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. A2.35 TRNT1 missense mutations define a new periodic fever syndrome. (13th February 2015) Authors: Giannelou, A Angeliki; Zhou, Q; Stoffels, M; Ombrello, A; Stone, D; Edwan, JH; Pelletier, M; Tsai, W; Calvo, K; Rosenzweig, S; Barron, K; Gadina, M; Aksentijevich, I; Daniel, L; Kastner, DL Journal: Annals of the rheumatic diseases Issue: Volume 74(2015)Supplement 1 Page Start: A30 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. B cells characterization in ADA2 Deficiency patients. Issue 1 (December 2015) Authors: Schena, F; Volpi, S; Caorsi, R; Pastorino, C; Penco, F; Kalli, F; Omenetti, A; Chiesa, S; Bertoni, A; Picco, P; Filaci, G; Aksentijevich, I; Grossi, A; Ceccherini, I; Martini, A; Traggiai, E; Gattorno, M 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. Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein. Issue 7 (23rd November 2009) Authors: Ryan, J G; Masters, S L; Booty, M G; Habal, N; Alexander, J D; Barham, B K; Remmers, E F; Barron, K S; Kastner, D L; Aksentijevich, I Journal: Annals of the rheumatic diseases Issue: Volume 69:Issue 7(2010) Page Start: 1360 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical follow-up on a cohort of patients with deficiency of adenosine deaminase 2 (DADA2). Issue 1 (December 2015) Authors: Barron, K; Ombrello, A; Stone, D; Hoffmann, P; Aksentijevich, I; Zhou, Q; Jones, A; Kastner, 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) ↗
9. Guidelines for the genetic diagnosis of hereditary recurrent fevers. Issue 10 (1st June 2012) Authors: Shinar, Y; Obici, L; Aksentijevich, I; Bennetts, B; Austrup, F; Ceccherini, I; Costa, J M; De Leener, A; Gattorno, M; Kania, U; Kone-Paut, I; Lezer, S; Livneh, A; Moix, I; Nishikomori, R; Ozen, S; Phylactou, L; Risom, L; Rowczenio, D; Sarkisian, T Journal: Annals of the rheumatic diseases Issue: Volume 71:Issue 10(2012) Page Start: 1599 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Identification of pyrin targets by CHiP-Seq. Issue 1 (December 2015) Authors: Wood, G; Kanno, Y; Sun, H; Gutierrez-Cruz, G; Aksentijevich, I; Kastner, 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) ↗