Results: 1-16 |
Results: 16

Authors: Schaner, P Richards, N Wadhwa, A Aksentijevich, I Kastner, D Tucker, P Gumucio, D
Citation: P. Schaner et al., Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states, NAT GENET, 27(3), 2001, pp. 318-321

Authors: Livneh, A Aksentijevich, I Langevitz, P Torosyna, Y G-Shoham, N Shinar, Y Pras, E Zaks, N Padeh, S Kastner, DL Pras, M
Citation: A. Livneh et al., A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behcet's disease (FMF-BD), EUR J HUM G, 9(3), 2001, pp. 191-196

Authors: Aganna, E Aksentijevich, I Hitman, GA Kastner, DL Hoepelman, AIM Posma, FD Zweers, EJK McDermott, MF
Citation: E. Aganna et al., Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance, EUR J HUM G, 9(1), 2001, pp. 63-66

Authors: Pras, E Aksentijevich, I Shinar, Y Kastner, DL Achiron, A
Citation: E. Pras et al., Lack of evidence for an association between two genetic polymorphisms in the tumor necrosis factor receptor 1 gene and multiple sclerosis in Ashkenazi Jews, EUR NEUROL, 46(3), 2001, pp. 153-155

Authors: Mansfield, E Chae, JJ Komarow, HD Brotz, TM Frucht, DM Aksentijevich, I Kastner, DL
Citation: E. Mansfield et al., The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments, BLOOD, 98(3), 2001, pp. 851-859

Authors: Aksentijevich, I Galon, J Soares, M Mansfield, E Hull, K Oh, HH Goldbach-Mansky, R Dean, J Athreya, B Reginato, AJ Henrickson, M Pons-Estel, B O'Shea, JJ Kastner, DL
Citation: I. Aksentijevich et al., The tumor-necrosis-factor receptor-associated periodic syndrome: New mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers, AM J HU GEN, 69(2), 2001, pp. 301-314

Authors: Galon, J Aksentijevich, I McDermott, MF O'Shea, JJ Kastner, DL
Citation: J. Galon et al., TNFRSF1A mutations and autoinflammatory syndromes, CURR OP IM, 12(4), 2000, pp. 479-486

Authors: Chae, JJ Centola, M Aksentijevich, I Dutra, A Tran, M Wood, G Nagaraju, K Kingma, DW Liu, PP Kastner, DL
Citation: Jj. Chae et al., Isolation, genomic organization, and expression analysis of the mouse and rat homologs of MEFV, the gene for familial Mediterranean fever, MAMM GENOME, 11(6), 2000, pp. 428-435

Authors: Shinar, Y Livneh, A Langevitz, P Zaks, N Aksentijevich, I Koziol, DE Kastner, DL Pras, M Pras, E
Citation: Y. Shinar et al., Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever, J RHEUMATOL, 27(7), 2000, pp. 1703-1707

Authors: Toro, JR Aksentijevich, I Hull, K Dean, J Kastner, DL
Citation: Jr. Toro et al., Tumor necrosis factor receptor-associated periodic syndrome - A novel syndrome with cutaneous manifestations, ARCH DERMAT, 136(12), 2000, pp. 1487-1494

Authors: Feliubadalo, L Font, M Purroy, J Rousaud, F Estivill, X Nunes, V Golomb, E Centola, M Aksentijevich, I Kreiss, Y Goldman, B Pras, M Kastner, DL Pras, E Gasparini, P Bisceglia, L Beccia, E Gallucci, M de Sanctis, L Ponzone, A Rizzoni, GF Zelante, L Bassi, MT George, AL Manzoni, M De Grandi, A Riboni, M Endsley, JK Ballabio, A Borsani, G Reig, N Fernandez, E Estevez, R Pineda, M Torrents, D Camps, M Lloberas, J Zorzano, A Palacin, M
Citation: L. Feliubadalo et al., Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)AT) of rBAT, NAT GENET, 23(1), 1999, pp. 52-57

Authors: Pras, E Pras, E Kreiss, Y Frishberg, Y Prosen, L Aksentijevich, I Kastner, DL
Citation: E. Pras et al., Refined mapping of the CSNU3 gene to a 1.8-Mb region on chromosome 19q13.1using historical recombinants in libyan Jewish cystinuria patients, GENOMICS, 60(2), 1999, pp. 248-250

Authors: McDermott, MF Aksentijevich, I Galon, J McDermott, EM Ogunkolade, BW Centola, M Mansfield, E Gadina, M Karenko, L Pettersson, T McCarthy, J Frucht, DM Aringer, M Torosyan, Y Teppo, AM Wilson, M Karaarslan, HM Wan, Y Todd, I Wood, G Schlimgen, R Kumarajeewa, TR Cooper, SM Vella, JP Amos, CI Mulley, J Quane, KA Molloy, MG Ranki, A Powell, RJ Hitman, GA O'Shea, JJ Kastner, DL
Citation: Mf. Mcdermott et al., Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes, CELL, 97(1), 1999, pp. 133-144

Authors: Oddoux, C Guillen-Navarro, E Ditivoli, C Dicave, E Cilio, MR Clayton, CM Nelson, H Sarafoglou, K McCain, N Peretz, H Seligsohn, U Luzzatto, L Nafa, K Nardi, M Karpatkin, M Aksentijevich, I Kastner, D Axelrod, F Ostrer, H
Citation: C. Oddoux et al., Commentary - Mendelian diseases among Roman Jews: Implications for the origins of disease alleles, J CLIN END, 84(12), 1999, pp. 4405-4409

Authors: 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
Citation: I. Aksentijevich et al., 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, AM J HU GEN, 64(4), 1999, pp. 949-962

Authors: Centola, M Chen, XG Sood, R Deng, ZM Aksentijevich, I Blake, T Ricke, DO Chen, X Wood, G Zaks, N Richards, N Krizman, D Mansfield, E Apostolou, S Liu, JM Shafran, N Vedula, A Hamon, M Cercek, A Kahan, T Gumucio, D Callen, DF Richards, RI Moyzis, RK Doggett, NA Collins, FS Liu, PP Fischel-Ghodsian, N Kastner, DL
Citation: M. Centola et al., Construction of an similar to 700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3, GENOME RES, 8(11), 1998, pp. 1172-1191
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