Description of a case of daily fever, developmental abnormalities, and a heterozygous M694I MEFV mutation

Por Pinto-Patarroyo, G, Kastner, D
Publicado no Pediatr Rheumatol Online J (2015)

Activation of the pyrin inflammasome through the RhoA signaling pathway in FMF and HIDS

Por Park, YH, Kastner, D, Chae, JJ
Publicado no Pediatr Rheumatol Online J (2015)

Cofilin-1 is an essential redox sensor for NLRP3 inflammasome activation

Por Park, YH, Kastner, D, Chae, JJ
Publicado no Pediatr Rheumatol Online J (2015)

Familial Mediterranean fever (FMF) and beyond: a new horizon. Fourth International Congress on the Systemic Autoinflammatory Diseases held in Bethesda, USA, 6–10 November 2005

Por Ozen, S, Hoffman, H M, Frenkel, J, Kastner, D
Publicado em 2006

PW02-002 - Single MVK mutation and recurrent fevers

Por Barron, K, Ombrello, A, Goldsmith, D, Aksentijevich, I, Jones, A, Kastner, D
Publicado em 2013

HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis

Por Ombrello, M, Remmers, E, Zeggini, E, Thomson, W, Kastner, D, Woo, P
Publicado no Pediatr Rheumatol Online J (2015)

Factors influencing the length of hospital stay of patients with anorexia nervosa – results of a prospective multi-center study

Por Kästner, D., Löwe, B., Weigel, A., Osen, B., Voderholzer, U., Gumz, A.
Publicado no BMC Health Serv Res (2018)

PW03-013 - Behçet's disease: genotype-phenotype correlations

Por Takeuchi, M, Kawagoe, T, Meguro, A, Ishigatsubo, Y, Remmers, E, Kastner, D, Mizuki, N
Publicado em 2013

Identification of pyrin targets by CHiP-Seq

Por Wood, G, Kanno, Y, Sun, H, Gutierrez-Cruz, G, Aksentijevich, I, Kastner, D
Publicado no Pediatr Rheumatol Online J (2015)

OR10-001 - Altered mitochondrial ROS and metabolism in TRAPS

Por Siegel, R, Billingham, L, pelletier, M, Cudrici, C, Ombrello, A, Murphy, M, Kastner, D
Publicado em 2013

Clinical follow-up on a cohort of patients with deficiency of adenosine deaminase 2 (DADA2)

Por Barron, K, Ombrello, A, Stone, D, Hoffmann, P, Aksentijevich, I, Zhou, Q, Jones, A, Kastner, D
Publicado no Pediatr Rheumatol Online J (2015)

Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q.

Por Wartenfeld, R, Golomb, E, Katz, G, Bale, S J, Goldman, B, Pras, M, Kastner, D L, Pras, E
Publicado em 1997

Use of TNF inhibitors in the treatment of PAPA syndrome

Por Stone, D, Ombrello, A, de Jesus, A Almeida, Hoffmann, P, Jones, A, Goldbach-Mansky, R, Barron, K, Kastner, D
Publicado no Pediatr Rheumatol Online J (2015)

A common ancestral haplotype in carrier chromosomes from different ethnic backgrounds in vacuolating megalencephalic leucoencephalopathy with subcortical cysts

Por Shinar, Y, Ben-Zeev, B, Brand, N, Lahat, H, Gross-Zur, V, MacGregor, D, Bahan, T, Kastner, D, Pras, E
Publicado em 2002

CECR1 p.Gly47Arg mutations are not increased in frequency in Turkish Behçet's disease patients compared with healthy controls

Por Erer, B, Remmers, E, Takeuchi, M, Ustek, D, Tugal-Tutkun, I, Seyahi, E, Ozyazgan, Y, Gul, A, Ombrello, M, Kastner, D
Publicado no Pediatr Rheumatol Online J (2015)

Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2.

Por Stratakis, C A, Carney, J A, Lin, J P, Papanicolaou, D A, Karl, M, Kastner, D L, Pras, E, Chrousos, G P
Publicado em 1996

The deficiency of adenosine deaminase type 2-results of therapeutic intervention

Por Ombrello, A, Stone, D, Hoffmann, P, Jones, A, Barham, B, Barron, K, Flegel, W, Sheldon, S, Zhou, Q, Hershfield, M, Aksentijevich, I, Kumar, P, Kastner, D
Publicado no Pediatr Rheumatol Online J (2015)

OR13-001 Loss-of-function mutations in CECR1, encoding adenosine deaminase 2 (ADA2), cause recurrent fevers and early onset strokes

Por Zhou, Q, Zavialov, A, Chae, J, Hershfield, M, Sood, R, Burgess, S, Zavialov, A, Chin, D, Gadina, M, Goldbach-Mansky, R, Ombrello, A, Stone, D, Aksentijevich, I, Kastner, D
Publicado em 2013

Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi...

Por Aksentijevich, I, Torosyan, Y, Samuels, J, Centola, M, Pras, E, Chae, J J, Oddoux, C, Wood, G, Azzaro, M P, Palumbo, G, Giustolisi, R, Pras, M, Ostrer, H, Kastner, D L
Publicado em 1999

A dominantly-inherited Behcet-like disorder caused by haploinsufficiency of the TNFAIP3/A20 protein

Por 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
Publicado no Pediatr Rheumatol Online J (2015)