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Results: 1-25 | 26-30
Results: 1-25/30
Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship
Authors: Gregersen, N Andresen, BS Corydon, M Corydon, TJ Olsen, RKJ Bolund, L Bross, P
Citation: N. Gregersen et al., Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship, HUM MUTAT, 18(3), 2001, pp. 169-189
Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome
Authors: Hertz, JM Juncker, I Persson, U Matthijs, G Schmidtke, J Petersen, MB Kjeldsen, M Gregersen, N
Citation: Jm. Hertz et al., Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome, HUM MUTAT, 18(2), 2001, pp. 141-148
The role of chaperone-assisted folding and quality control in inborn errors of metabolism: Protein folding disorders
Authors: Gregersen, N Bross, P Andresen, BS Pedersen, CB Corydon, TJ Bolund, L
Citation: N. Gregersen et al., The role of chaperone-assisted folding and quality control in inborn errors of metabolism: Protein folding disorders, J INH MET D, 24(2), 2001, pp. 189-212
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency
Authors: Corydon, MJ Vockley, J Rinaldo, P Rhead, WJ Kjeldsen, M Winter, V Riggs, C Babovic-Vuksanovic, D Smeitink, J De Jong, J Levy, H Sewell, AC Roe, C Matern, D Dasouki, M Gregersen, N
Citation: Mj. Corydon et al., Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency, PEDIAT RES, 49(1), 2001, pp. 18-23
Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme Adehydrogenase deficiency
Authors: Matern, D Hart, P Murtha, AP Vockley, J Gregersen, N Millington, DS Treem, WR
Citation: D. Matern et al., Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme Adehydrogenase deficiency, J PEDIAT, 138(4), 2001, pp. 585-588
Development and application of linkage analysis in genetic diagnosis of familial hypertrophic cardiomyopathy
Authors: Mogensen, J Andersen, PS Steffensen, U Christiansen, M Egeblad, H Gregersen, N Borglum, AD
Citation: J. Mogensen et al., Development and application of linkage analysis in genetic diagnosis of familial hypertrophic cardiomyopathy, J MED GENET, 38(3), 2001, pp. 193-197
LDL-receptor gene mutations and the hypocholesterolemic response to statintherapy
Authors: Brorholt-Petersen, JU Jensen, HK Raungaard, B Gregersen, N Faergeman, O
Citation: Ju. Brorholt-petersen et al., LDL-receptor gene mutations and the hypocholesterolemic response to statintherapy, CLIN GENET, 59(6), 2001, pp. 397-405
A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency
Authors: Touma, EH Rashed, MS Vianey-Saban, C Sakr, A Divry, P Gregersen, N Andresen, BS
Citation: Eh. Touma et al., A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency, ARCH DIS CH, 84(1), 2001, pp. 58-60
Medium-chain Acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-Based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency
Authors: Andresen, BS Dobrowolski, SF O'Reilly, L Muenzer, J McCandless, SE Frazier, DM Udvari, S Bross, P Knudsen, I Banas, R Chace, DH Engel, P Naylor, EW Gregersen, N
Citation: Bs. Andresen et al., Medium-chain Acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-Based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency, AM J HU GEN, 68(6), 2001, pp. 1408-1418
Analysis of the Epstein-Barr virus (EBV) latent membrane protein 1 (LMP-1)gene and promoter in Hodgkin's disease isolates: selection against EBV variants with mutations in the LMP-1 promoter ATF-1/CREB-1 binding site
Authors: Sandvej, K Andresen, BS Zhou, XG Gregersen, N Hamilton-Dutoit, S
Citation: K. Sandvej et al., Analysis of the Epstein-Barr virus (EBV) latent membrane protein 1 (LMP-1)gene and promoter in Hodgkin's disease isolates: selection against EBV variants with mutations in the LMP-1 promoter ATF-1/CREB-1 binding site, J CL PATH-M, 53(5), 2000, pp. 280-288
Characterization of mouse Clpp protease cDNA, gene, and protein
Authors: Andresen, BS Corydon, TJ Wilsbech, M Bross, P Schroeder, LD Hindkjaer, TF Bolund, L Gregersen, N
Citation: Bs. Andresen et al., Characterization of mouse Clpp protease cDNA, gene, and protein, MAMM GENOME, 11(4), 2000, pp. 275-280
Human and mouse mitochondrial orthologs of bacterial ClpX
Authors: Corydon, TJ Wilsbech, M Jespersgaard, C Andresen, BS Borglum, AD Pedersen, S Bolund, L Gregersen, N Bross, P
Citation: Tj. Corydon et al., Human and mouse mitochondrial orthologs of bacterial ClpX, MAMM GENOME, 11(10), 2000, pp. 899-905
Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations
Authors: Gregersen, N Andresen, BS Bross, P
Citation: N. Gregersen et al., Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations, EUR J PED, 159, 2000, pp. S213-S218
Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders
Authors: Gregersen, N Bross, P Jorgensen, MM Corydon, TJ Andresen, BS
Citation: N. Gregersen et al., Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders, J INH MET D, 23(5), 2000, pp. 441-447
Grp78 is involved in retention of mutant low density lipoprotein receptor protein in the endoplasmic reticulum
Authors: Jorgensen, MM Jensen, ON Holst, HU Hansen, JJ Corydon, TJ Bross, P Bolund, L Gregersen, N
Citation: Mm. Jorgensen et al., Grp78 is involved in retention of mutant low density lipoprotein receptor protein in the endoplasmic reticulum, J BIOL CHEM, 275(43), 2000, pp. 33861-33868
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoAdehydrogenase deficiency: Identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenasesin isoleucine and valine metabolism
Authors: Andresen, BS Christensen, E Corydon, TJ Bross, P Pilgaard, B Wanders, RJA Ruiter, JPN Simonsen, H Winter, V Knudsen, I Schroeder, LD Gregersen, N Skovby, F
Citation: Bs. Andresen et al., Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoAdehydrogenase deficiency: Identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenasesin isoleucine and valine metabolism, AM J HU GEN, 67(5), 2000, pp. 1095-1103
Detection of clonal B cells in microdissected reactive lymphoproliferations: possible diagnostic pitfalls in PCR analysis of immunoglobulin heavy chain gene rearrangement
Authors: Zhou, XG Sandvej, K Gregersen, N Hamilton-Dutoit, SJ
Citation: Xg. Zhou et al., Detection of clonal B cells in microdissected reactive lymphoproliferations: possible diagnostic pitfalls in PCR analysis of immunoglobulin heavy chain gene rearrangement, J CL PATH-M, 52(2), 1999, pp. 104-110
A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation
Authors: Bross, P Pedersen, P Winter, V Nyholm, M Johansen, BN Olsen, RKJ Corydon, MJ Andresen, BS Eiberg, H Kolvraa, S Gregersen, N
Citation: P. Bross et al., A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation, MOL GEN MET, 67(2), 1999, pp. 138-147
Protein misfolding and degradation in genetic diseases
Authors: Bross, P Corydon, TJ Andresen, BS Jorgensen, MM Bolund, L Gregersen, N
Citation: P. Bross et al., Protein misfolding and degradation in genetic diseases, HUM MUTAT, 14(3), 1999, pp. 186-198
Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype
Authors: Scholte, HR Van Coster, RNA de Jonge, PC Poorthuis, BJHM Jeneson, JAL Andresen, BS Gregersen, N de Klerk, JBC Busch, HFM
Citation: Hr. Scholte et al., Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype, NEUROMUSC D, 9(5), 1999, pp. 313-319
Klebsiella pneumoniae with extended spectrum beta-lactamase activity associated with a necrotizing enterocolitis outbreak
Authors: Gregersen, N Van Nierop, W Von Gottberg, A Duse, A Davies, V Cooper, P
Citation: N. Gregersen et al., Klebsiella pneumoniae with extended spectrum beta-lactamase activity associated with a necrotizing enterocolitis outbreak, PEDIAT INF, 18(11), 1999, pp. 963-967
Localization of a human nucleoporin 155 gene (NUP155) to the 5p13 region and cloning of its cDNA
Authors: Zhang, XQ Yang, HM Corydon, MJ Zhang, XX Pedersen, S Korenberg, JR Chen, XN Laporte, J Gregersen, N Niebuhr, E Liu, GY Bolund, L
Citation: Xq. Zhang et al., Localization of a human nucleoporin 155 gene (NUP155) to the 5p13 region and cloning of its cDNA, GENOMICS, 57(1), 1999, pp. 144-151
Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency
Authors: Merinero, B Pascual, SIP Perez-Cerda, C Gangoiti, J Castro, M Garcia, MJ Castroviejo, IP Vianey-Saban, C Andresen, B Gregersen, N Ugarte, M
Citation: B. Merinero et al., Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency, J INH MET D, 22(7), 1999, pp. 802-810
DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency
Authors: Andresen, BS Olpin, S Kvittingen, EA Augoustides-Savvopoulou, P Lindhout, D Halley, DJJ Vianey-Saban, C Wanders, RJA IJlst, L Schroeder, LD Bolund, L Gregersen, N
Citation: Bs. Andresen et al., DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency, J INH MET D, 22(3), 1999, pp. 281-285
Identification of novel and known mutations in the genes for keratin 5 and14 in Danish patients with epidermolysis bullosa simplex: Correlation between genotype and phenotype
Authors: Sorensen, CB Ladekjaer-Mikkelsen, AS Andresen, BS Brandrup, F Veien, NK Buus, SK Anton-Lamprecht, I Kruse, TA Jensen, PKA Eiberg, H Bolund, L Gregersen, N
Citation: Cb. Sorensen et al., Identification of novel and known mutations in the genes for keratin 5 and14 in Danish patients with epidermolysis bullosa simplex: Correlation between genotype and phenotype, J INVES DER, 112(2), 1999, pp. 184-190
Risultati: 1-25 | 26-30