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Results: 1-24 |
Results: 24
A gene causing autosomal recessive cataract maps to the short arm of chromosome 3
Authors: Pras, E Pras, E Bakhan, T Levy-Nissenbaum, E Lahat, H Assia, EI Garzozi, HJ Kastner, DL Goldman, B Frydman, M
Citation: E. Pras et al., A gene causing autosomal recessive cataract maps to the short arm of chromosome 3, ISR MED ASS, 3(8), 2001, pp. 559-562
A fever gene comes in from the cold
Authors: Kastner, DL O'Shea, JJ
Citation: Dl. Kastner et Jj. O'Shea, A fever gene comes in from the cold, NAT GENET, 29(3), 2001, pp. 241-242
A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behcet's disease (FMF-BD)
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
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance
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
Lack of evidence for an association between two genetic polymorphisms in the tumor necrosis factor receptor 1 gene and multiple sclerosis in Ashkenazi Jews
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
Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia - Clinical features and assignment of the disease gene to chromosome 1p13-21
Authors: Lahat, H Eldar, M Levy-Nissenbaum, E Bahan, T Friedman, E Khoury, A Lorber, A Kastner, DL Goldman, B Pras, E
Citation: H. Lahat et al., Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia - Clinical features and assignment of the disease gene to chromosome 1p13-21, CIRCULATION, 103(23), 2001, pp. 2822-2827
The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments
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
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
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
A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases
Authors: Jawaheer, D Seldin, MF Amos, CI Chen, WV Shigeta, R Monteiro, J Kern, M Criswell, LA Albani, S Nelson, JL Clegg, DO Pope, R Schroeder, HW Bridges, SL Pisetsky, DS Ward, R Kastner, DL Wilder, RL Pincus, T Callahan, LF Flemming, D Wener, MH Gregersen, PK
Citation: D. Jawaheer et al., A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases, AM J HU GEN, 68(4), 2001, pp. 927-936
TNFRSF1A mutations and autoinflammatory syndromes
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
Isolation, genomic organization, and expression analysis of the mouse and rat homologs of MEFV, the gene for familial Mediterranean fever
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
Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever
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
Localization, expression and genomic structure of the gene encoding the human serine protease testisin
Authors: Hooper, JD Bowen, N Marshall, H Cullen, LM Sood, R Daniels, R Stuttgen, MA Normyle, JF Higgs, DR Kastner, DL Ogbourne, SM Pera, MF Jazwinska, EC Antalis, TM
Citation: Jd. Hooper et al., Localization, expression and genomic structure of the gene encoding the human serine protease testisin, BBA-GENE ST, 1492(1), 2000, pp. 63-71
The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators
Authors: Centola, M Wood, G Frucht, DM Galon, J Aringer, M Farrell, C Kingma, DW Horwitz, ME Mansfield, E Holland, SM O'Shea, JJ Rosenberg, HF Malech, HL Kastner, DL
Citation: M. Centola et al., The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators, BLOOD, 95(10), 2000, pp. 3223-3231
Tumor necrosis factor receptor-associated periodic syndrome - A novel syndrome with cutaneous manifestations
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
MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever
Authors: Livneh, A Langevitz, P Shinar, Y Zaks, N Kastner, DL Pras, M Pras, E
Citation: A. Livneh et al., MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever, AMYLOID, 6(1), 1999, pp. 1-6
Genealogy construction in a historically isolated population: Application to genetic studies of rheumatoid arthritis in the Pima Indian
Authors: Lin, JP Hirsch, R Jacobsson, LTH Scott, WW Ma, LD Pillemer, SR Knowler, WC Kastner, DL Bale, SJ
Citation: Jp. Lin et al., Genealogy construction in a historically isolated population: Application to genetic studies of rheumatoid arthritis in the Pima Indian, GENET MED, 1(5), 1999, pp. 187-193
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)AT) of rBAT
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
Refined mapping of the CSNU3 gene to a 1.8-Mb region on chromosome 19q13.1using historical recombinants in libyan Jewish cystinuria patients
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
Identification and characterization of a zinc finger gene (ZNF213) from 16p13.3
Authors: Chen, XG Hamon, M Deng, ZM Centola, M Sood, R Taylor, K Kastner, DL Fischel-Ghodsian, N
Citation: Xg. Chen et al., Identification and characterization of a zinc finger gene (ZNF213) from 16p13.3, BBA-GENE ST, 1444(2), 1999, pp. 218-230
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
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
Three novel small deletion mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia
Authors: Chae, JJ Kim, SH Kim, UK Han, KH Kim, HS Kastner, DL Namkoong, Y Park, YB Lee, CC
Citation: Jj. Chae et al., Three novel small deletion mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia, CLIN GENET, 55(5), 1999, pp. 325-331
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
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
Construction of an similar to 700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3
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
Risultati: 1-24 |