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Results: 1-18 |
Results: 18
A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition
Authors: Noensie, EN Dietz, HC
Citation: En. Noensie et Hc. Dietz, A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition, NAT BIOTECH, 19(5), 2001, pp. 434-439
Familial Tetralogy of Fallot caused bg mutation in the jagged1 gene (vol 10, pg 163, 2001)
Authors: Eldadah, ZA Hamosh, A Biery, NJ Montgomery, RA Duke, M Elkins, R Dietz, HC
Citation: Za. Eldadah et al., Familial Tetralogy of Fallot caused bg mutation in the jagged1 gene (vol 10, pg 163, 2001), HUM MOL GEN, 10(9), 2001, pp. 1003-1003
Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability
Authors: Medghalchi, SM Frischmeyer, PA Mendell, JT Kelly, AG Lawler, AM Dietz, HC
Citation: Sm. Medghalchi et al., Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability, HUM MOL GEN, 10(2), 2001, pp. 99-105
Familial Tetralogy of Fallot caused by mutation in the jagged1 gene
Authors: Eldadah, ZA Hamosh, A Biery, NJ Montgomery, RA Duke, M Elkins, R Dietz, HC
Citation: Za. Eldadah et al., Familial Tetralogy of Fallot caused by mutation in the jagged1 gene, HUM MOL GEN, 10(2), 2001, pp. 163-169
Characterization of microsatellite markers flanking FBN1: Utility in the diagnostic evaluation for Marfan syndrome
Authors: Judge, DP Biery, NJ Dietz, HC
Citation: Dp. Judge et al., Characterization of microsatellite markers flanking FBN1: Utility in the diagnostic evaluation for Marfan syndrome, AM J MED G, 99(1), 2001, pp. 39-47
When the message goes awry: Disease-producing mutations that influence mRNA content and performance
Authors: Mendell, JT Dietz, HC
Citation: Jt. Mendell et Hc. Dietz, When the message goes awry: Disease-producing mutations that influence mRNA content and performance, CELL, 107(4), 2001, pp. 411-414
Phenotypic alteration of vascular smooth muscle cells precedes elastolysisin a mouse model of Marfan syndrome
Authors: Bunton, TE Biery, NJ Myers, L Gayraud, B Ramirez, F Dietz, HC
Citation: Te. Bunton et al., Phenotypic alteration of vascular smooth muscle cells precedes elastolysisin a mouse model of Marfan syndrome, CIRCUL RES, 88(1), 2001, pp. 37-43
Familial thoracic aortic aneurysms and dissections - Genetic heterogeneitywith a major locus mapping to 5q13-14
Authors: Guo, DC Hasham, S Kuang, SQ Vaughan, CJ Boerwinkle, E Chen, H Abuelo, D Dietz, HC Basson, CT Shete, SS Milewicz, DM
Citation: Dc. Guo et al., Familial thoracic aortic aneurysms and dissections - Genetic heterogeneitywith a major locus mapping to 5q13-14, CIRCULATION, 103(20), 2001, pp. 2461-2468
Mouse models of genetic diseases resulting from mutations in elastic fiberproteins
Authors: Dietz, HC Mecham, RP
Citation: Hc. Dietz et Rp. Mecham, Mouse models of genetic diseases resulting from mutations in elastic fiberproteins, MATRIX BIOL, 19(6), 2000, pp. 481-488
Cloning of the murine Krit1 cDNA reveals novel mammalian 5 ' coding exons
Authors: Zhang, J Clatterbuck, RE Rigamonti, D Dietz, HC
Citation: J. Zhang et al., Cloning of the murine Krit1 cDNA reveals novel mammalian 5 ' coding exons, GENOMICS, 70(3), 2000, pp. 392-395
Novel Upf2p orthologues suggest a functional link between translation initiation and nonsense surveillance complexes
Authors: Mendell, JT Medghalchi, SM Lake, RG Noensie, EN Dietz, HC
Citation: Jt. Mendell et al., Novel Upf2p orthologues suggest a functional link between translation initiation and nonsense surveillance complexes, MOL CELL B, 20(23), 2000, pp. 8944-8957
Mutations in KRIT1 in familial cerebral cavernous malformations
Authors: Zhang, J Clatterbuck, RE Rigamonti, D Dietz, HC
Citation: J. Zhang et al., Mutations in KRIT1 in familial cerebral cavernous malformations, NEUROSURGER, 46(5), 2000, pp. 1272-1277
Interactive modeling adds a new dimension to scientific publishing
Authors: Marban, E Bolli, R Breitwieser, G Busse, RFE Dietz, HC Endoh, M Finkel, T Kass, DA Lowenstein, C Rabinovitch, M Tomaselli, GT
Citation: E. Marban et al., Interactive modeling adds a new dimension to scientific publishing, CIRCUL RES, 87(11), 2000, pp. 955-955
Nonsense-mediated mRNA decay in health and disease
Authors: Frischmeyer, PA Dietz, HC
Citation: Pa. Frischmeyer et Hc. Dietz, Nonsense-mediated mRNA decay in health and disease, HUM MOL GEN, 8(10), 1999, pp. 1893-1900
Revised genomic organization of FBN1 and significance for regulated gene expression
Authors: Biery, NJ Eldadah, ZA Moore, CS Stetten, G Spencer, F Dietz, HC
Citation: Nj. Biery et al., Revised genomic organization of FBN1 and significance for regulated gene expression, GENOMICS, 56(1), 1999, pp. 70-77
Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-l
Authors: Pereira, L Lee, SY Gayraud, B Andrikopoulos, K Shapiro, SD Bunton, T Biery, NJ Dietz, HC Sakai, LY Ramirez, F
Citation: L. Pereira et al., Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-l, P NAS US, 96(7), 1999, pp. 3819-3823
Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene
Authors: Cserhalmi-Friedman, PB McGrath, JA Mellerio, JE Romero, R Salas-Alanis, JC Paller, AS Dietz, HC Christiano, AM
Citation: Pb. Cserhalmi-friedman et al., Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene, LAB INV, 78(12), 1998, pp. 1483-1492
Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome
Authors: Montgomery, RA Geraghty, MT Bull, E Gelb, BD Johnson, M McIntosh, I Francomano, CA Dietz, HC
Citation: Ra. Montgomery et al., Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome, AM J HU GEN, 63(6), 1998, pp. 1703-1711
Risultati: 1-18 |