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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 Jewish population.
Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae JJ, Oddoux C, Wood G, Azzaro MP, Palumbo G, Giustolisi R, Pras M, Ostrer H, Kastner DL. Aksentijevich I, et al. Among authors: kastner dl. Am J Hum Genet. 1999 Apr;64(4):949-62. doi: 10.1086/302327. Am J Hum Genet. 1999. PMID: 10090880 Free PMC article.
TNFRSF1A mutations and autoinflammatory syndromes.
Galon J, Aksentijevich I, McDermott MF, O'Shea JJ, Kastner DL. Galon J, et al. Among authors: kastner dl. Curr Opin Immunol. 2000 Aug;12(4):479-86. doi: 10.1016/s0952-7915(00)00124-2. Curr Opin Immunol. 2000. PMID: 10899034 Review.
De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.
Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, Stein L, Russo R, Goldsmith D, Dent P, Rosenberg HF, Austin F, Remmers EF, Balow JE Jr, Rosenzweig S, Komarow H, Shoham NG, Wood G, Jones J, Mangra N, Carrero H, Adams BS, Moore TL, Schikler K, Hoffman H, Lovell DJ, Lipnick R, Barron K, O'Shea JJ, Kastner DL, Goldbach-Mansky R. Aksentijevich I, et al. Among authors: kastner dl. Arthritis Rheum. 2002 Dec;46(12):3340-8. doi: 10.1002/art.10688. Arthritis Rheum. 2002. PMID: 12483741 Free PMC article.
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