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Results: 1-12 |
Results: 12
Human and mouse alpha-synuclein genes: Comparative genomic sequence analysis and identification of a novel gene regulatory element
Authors: Touchman, JW Dehejia, A Chiba-Falek, O Cabin, DE Schwartz, JR Orrison, BM Polymeropoulos, MH Nussbaum, RL
Citation: Jw. Touchman et al., Human and mouse alpha-synuclein genes: Comparative genomic sequence analysis and identification of a novel gene regulatory element, GENOME RES, 11(1), 2001, pp. 78-86
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico
Authors: Anikster, Y Huizing, M White, J Shevchenko, YO Fitzpatrick, DL Touchman, JW Compton, JG Bale, SJ Swank, RT Gahl, WA Toro, JR
Citation: Y. Anikster et al., Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico, NAT GENET, 28(4), 2001, pp. 376-380
The human pregnane X receptor: genomic structure and identification and functional characterization of natural allelic variants
Authors: Zhang, J Kuehl, P Green, ED Touchman, JW Watkins, PB Daly, A Hall, SD Maurel, P Relling, M Brimer, C Yasuda, K Wrighton, SA Hancock, M Kim, RB Strom, S Thummel, K Russell, CG Hudson, JR Schuetz, EG Boguski, MS
Citation: J. Zhang et al., The human pregnane X receptor: genomic structure and identification and functional characterization of natural allelic variants, PHARMACOGEN, 11(7), 2001, pp. 555-572
The NIEHS Xenopus maternal EST project: interim analysis of the first 13,879 ESTs from unfertilized eggs
Authors: Blackshear, PJ Lai, WS Thorn, JM Kennington, EA Staffa, NG Moore, DT Bouffard, GG Beckstrom-Sternberg, SM Touchman, JW Bonaldo, MD Soares, MB
Citation: Pj. Blackshear et al., The NIEHS Xenopus maternal EST project: interim analysis of the first 13,879 ESTs from unfertilized eggs, GENE, 267(1), 2001, pp. 71-87
The genomic region encompassing the nephropathic cystinosis gene (CTNS): Complete sequencing of a 200-kb segment and discovery of a novel gene withinthe common cystinosis-causing deletion
Authors: Touchman, JW Anikster, Y Dietrich, NL Maduro, VVB McDowell, G Shotelersuk, V Bouffard, GG Beckstrom-Sternberg, SM Gahl, WA Green, ED
Citation: Jw. Touchman et al., The genomic region encompassing the nephropathic cystinosis gene (CTNS): Complete sequencing of a 200-kb segment and discovery of a novel gene withinthe common cystinosis-causing deletion, GENOME RES, 10(2), 2000, pp. 165-173
Comparative genomic sequence analysis of the human and mouse cystic fibrosis transmembrane conductance regulator genes
Authors: Ellsworth, RE Jamison, DC Touchman, JW Chissoe, SL Maduro, VVB Bouffard, GG Dietrich, NL Beckstrom-Sternberg, SM Iyer, LM Weintraub, LA Cotton, M Courtney, L Edwards, J Maupin, R Ozersky, P Rohlfing, T Wohldmann, P Miner, T Kemp, K Kramer, J Korf, I Pepin, K Antonacci-Fulton, L Fulton, RS Minx, P Hillier, LW Wilson, RK Waterston, RH Miller, W Green, ED
Citation: Re. Ellsworth et al., Comparative genomic sequence analysis of the human and mouse cystic fibrosis transmembrane conductance regulator genes, P NAS US, 97(3), 2000, pp. 1172-1177
Analysis of expressed immunoglobulin heavy chain genes in familial B-CLL
Authors: Sakai, A Marti, GE Caporaso, N Pittaluga, S Touchman, JW Fend, F Raffeld, M
Citation: A. Sakai et al., Analysis of expressed immunoglobulin heavy chain genes in familial B-CLL, BLOOD, 95(4), 2000, pp. 1413-1419
Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS)
Authors: Anikster, Y Lucero, C Touchman, JW Huizing, M McDowell, G Shotelersuk, V Green, ED Gahl, WA
Citation: Y. Anikster et al., Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS), MOL GEN MET, 66(2), 1999, pp. 111-116
An effective approach for analyzing "prefinished" genomic sequence data
Authors: Kuehl, PM Weisemann, JM Touchman, JW Green, ED Boguski, MS
Citation: Pm. Kuehl et al., An effective approach for analyzing "prefinished" genomic sequence data, GENOME RES, 9(2), 1999, pp. 189-194
Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)
Authors: Sahoo, T Johnson, EW Thomas, JW Kuehl, PM Jones, TL Dokken, CG Touchman, JW Gallione, CJ Lee-Lin, SQ Kosofsky, B Kurth, JH Louis, DN Mettler, G Morrison, L Gil-Nagel, A Rich, SS Zabramski, JM Boguski, MS Green, ED Marchuk, DA
Citation: T. Sahoo et al., Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1), HUM MOL GEN, 8(12), 1999, pp. 2325-2333
Comparative analyses of the Dominant megacolon-SOX10 genomic interval in mouse and human
Authors: Southard-Smith, EM Collins, JE Ellison, JS Smith, KJ Baxevanis, AD Touchman, JW Green, ED Dunham, I Pavan, WJ
Citation: Em. Southard-smith et al., Comparative analyses of the Dominant megacolon-SOX10 genomic interval in mouse and human, MAMM GENOME, 10(7), 1999, pp. 744-749
Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2
Authors: Liang, Y Wang, AH Belyantseva, IA Anderson, DW Probst, FJ Barber, TD Miller, W Touchman, JW Jin, L Sullivan, SL Sellers, JR Camper, SA Lloyd, RV Kachar, B Friedman, TB Fridell, RA
Citation: Y. Liang et al., Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2, GENOMICS, 61(3), 1999, pp. 243-258
Risultati: 1-12 |