Repository hosted by TU Delft Library

Home · Contact · About · Disclaimer ·
 

Search results also available in MS Excel format.

Showing 1 to 20 of 22 found. Next | Sort by date

1 Identification of three new mutations of the low density lipoprotein receptor gene in dutch familial hypercholesterolemic patients
article 1998    
Author: Lombardi, P. · Sijbrands, E.J.G. · Kamerling, S. · Smelt, A.H. · Havekes, L.M.
Keywords: Health · Adult · Aged · Codon, Terminator · DNA · DNA Mutational Analysis · Exons · Humans · Hyperlipoproteinemia Type II · Introns · Mutagenesis, Insertional · Mutation · Netherlands · Point Mutation · Receptors, LDL

2 Gender-related association between the -93T →Gg/D9N haplotype of the lipoprotein lipase gene and elevated lipid levels in familial combined hyperlipidemia
article 1998    
Author: Hoffer, M.J.V. · Bredie, S.J.H. · Snieder, H. · Reymer, P.W.A. · Demacker, P.N.M. · Havekes, L.M. · Boomsma, D.I. · Stalenhoef, A.F.H. · Frants, R.R. · Kastelein, J.J.P.
Keywords: Health · Familial combined hyperlipidemia · Family study · Genetic predisposition · Lipoprotein lipase · Mutation analysis · Adult · Amino Acid Sequence · DNA Mutational Analysis · Female · Haplotypes · Heterozygote · Humans · Hyperlipidemias · Likelihood Functions · Linkage (Genetics) · Lipids · Lipoprotein Lipase · Male · Middle Aged · Pedigree · Promoter Regions (Genetics) · Sex Characteristics
[Abstract]

3 Genotoxicity evaluation of wood-derived and vegetable oil-derived stanol esters
article 1999    
Author: Turnbull, D. · Frankos, V.H. · Delft, J.H.M. van · Vogel, N. de
Keywords: Nutrition · Fatty acid ester · Vegetable oil · Chemical structure · Chromosome aberration · Food safety · Gene mutation · Genotoxicity · Mammal cell · Priority journal · Salmonella typhimurium · Wood · Animals · Carcinogenicity Tests · CHO Cells · Chromosome Aberrations · Cricetinae · DNA Mutational Analysis · Evaluation Studies · Mice · Mutagens · Phytosterols · Plant Oils · Salmonella typhimurium · Tumor Cells, Cultured · Wood · Bacteria (microorganisms) · Mammalia · Salmonella typhimurium · Typhimurium
[Abstract]

4 Cost-effectiveness of 4 neonatal screening strategies for cystic fibrosis
article 2006    
Author: Akker-van Marle, M.E. van den · Dankert, H.M. · Verkerk, P.H. · Dankert-Roelse, J.E.
Keywords: Health · Jeugd en Gezondheid · Cost-effectiveness · Economic evaluation · Neonatal · Screening-newborn · DNA · Cost effectiveness analysis · Economic aspect · Gel electrophoresis · Gene mutation · Netherlands · Blood · Economics · Evaluation · Genetics · Immunoassay · Methodology · Newborn · Nucleotide sequence · Two dimensional gel electrophoresis · Cost-Benefit Analysis · Cystic Fibrosis · DNA Mutational Analysis · Electrophoresis, Gel, Two-Dimensional · Humans · Immunoassay · Infant, Newborn · Neonatal Screening · Trypsin
[Abstract]

5 The role of the lysyl binding site of tissue-type plasminogen activator in the interaction with a forming fibrin clot
article 1995    
Author: Bakker, A.H.F. · Weening-Verhoeff, E.J.D. · Verheijen, J.H.
Keywords: Amino Acid Sequence · Aminocaproic Acids · Animal · Binding Sites · Binding, Competitive · Blood Coagulation · DNA Mutational Analysis · Fibrin · L Cells (Cell Line) · Lysine · Mice · Models, Biological · Molecular Sequence Data · Point Mutation · Protein Binding · Recombinant Proteins · Sequence Deletion · Support, Non-U.S. Gov't · Tissue Plasminogen Activator
[PDF] [Abstract]

6 An improved colony-PCR method for filamentous fungi for amplification of pcr-fragments of several kilobases
article 1998    
Author: Zeijl, C.M.J. van · Kamp, E.H.M. van de · Punt, P.J. · Selten, G.C.M. · Hauer, B. · Gorcom, R.F.M. van · Hondel, C.A.M.J.J. van den
Keywords: Nutrition · Colony-PCR method · Filamentous fungi · Rapid screening · Fungi · Colony-PCR method · Filamentous fungi · Biotechnology · Aspergillus niger · Bacterium transformation · Fungus · Gene disruption · Genetic transformation · Mycelium · Nonhuman · Plasmid · Polymerase chain reaction · Priority journal · Aspergillus niger · Cytochrome P-450 Enzyme System · DNA Mutational Analysis · DNA, Fungal · Enzymes · Glucan 1,4-alpha-Glucosidase · Plasmids · Transformation, Genetic · Aspergillus niger · Bacteria (microorganisms) · Bassiana · Beauveria · Cordyceps bassiana · Fungi
[Abstract]

7 The expression of type III hyperlipoproteinemia: Involvement of lipolysis genes
article 2009    
Author: Henneman, P. · Sman-de Beer, F. van der · Moghaddam, P.H. · Huijts, P. · Stalenhoef, A.F.H. · Kastelein, J.J.P. · Duijn, C.M. van · Havekes, L.M. · Frants, R.R. · Dijk, K.W. van · Smelt, A.H.M.
Keywords: Biology · Biomedical Research · adenine · apolipoprotein A5 · apolipoprotein C3 · apolipoprotein E2 · cytosine · guanine · lipoprotein lipase · liver triacylglycerol lipase · thymine · adult · aged · article · controlled study · disease severity · female · gene expression · gene frequency · gene function · gene linkage disequilibrium · genetic association · genetic polymorphism · genetic variability · human · human cell · hyperlipidemia · hyperlipoproteinemia type 3 · hypertriglyceridemia · lipolysis · lipoprotein blood level · major clinical study · male · mutational analysis · Netherlands · priority journal
[Abstract]

8 Meat consumption and K-ras mutations in sporadic colon and rectal cancer in The Netherlands Cohort Study
article 2005    
Author: Brink, M. · Weijenberg, M.P. · Goeij, A.F.P.M. de · Roemen, G.M.J.M. · Lentjes, M.H.F.M. · Bruïne, A.P. de · Goldbohm, R.A. · Brandt, P.A. van den
Keywords: Health Nutrition · Food and Chemical Risk Analysis · Colon · Meat · Rectum · Wild-type K-ras · nitrosamine · polycyclic aromatic hydrocarbon · cancer incidence · cancer patient · colon cancer · dietary intake · female · gene mutation · genetic heterogeneity · genetic risk · major clinical study · rectum cancer · wild type · Aged · Case-Control Studies · Cohort Studies · Colonic Neoplasms · Diet · DNA Mutational Analysis · Female · Genes, ras · Humans · Male · Meat · Meat Products · Middle Aged · Netherlands · Rectal Neoplasms · Risk Factors · Seafood
[PDF] [Abstract]

9 Dietary folate intake and K-ras mutations in sporadic colon and rectal cancer in the Netherlands Cohort Study
article 2005    
Author: Brink, M. · Weijenberg, M.P. · Goeij, A.F.P.M. de · Roemen, G.M.J.M. · Lentjes, M.H.F.M. · Bruïne, A.P. de · Engeland, M. van · Goldbohm, R.A. · Brandt, P.A. van den
Keywords: Health · Food and Chemical Risk Analysis · Men · Transversion · Wild-type · Women · folic acid · K ras protein · adenocarcinoma · adult · aged · article · cancer incidence · cancer risk · cohort analysis · colon cancer · confidence interval · data analysis · dietary intake · female · follow up · gene mutation · human · human tissue · major clinical study · male · Netherlands · oncogene K ras · priority journal · rectum cancer · rectum tumor · Aged · Cohort Studies · Colonic Neoplasms · Diet · DNA Mutational Analysis · Female · Folic Acid · Genes, ras · Humans · Male · Middle Aged · Mutation · Neoplasms · Netherlands · Rectal Neoplasms · Risk · Sex Factors
[Abstract]

10 Mutational analysis of the role of calcium ions in the Lactobacillus reuteri strain 121 fructosyltransferase (levansucrase and inulosucrase) enzymes
article 2005    
Author: Ozimek, L.K. · Euverink, G.J.W. · Maarel, M.J.E.C. · Dijkhuizen, L.
Keywords: Food technology · Lactobacillus reuteri · Levansucrase · Mutagenesis · Bacterial enzyme · Fructosyltransferase · Inulosucrase · Levansucrase · Metal ion · Unclassified drug · Amino acid sequence · Bacillus subtilis · Bacterial strain · Calcium binding · Calcium transport · Enzyme activity · Enzyme structure · Gram positive bacterium · Metal binding · Mutational analysis · Nonhuman · Nucleotide sequence · Priority journal · Protein family · Site directed mutagenesis · Amino Acid Sequence · Binding Sites · Calcium · Edetic Acid · Enzyme Stability · Hexosyltransferases · Ion Transport · Lactobacillus · Molecular Sequence Data · Mutation · Protein Denaturation · Sequence Alignment · Temperature
[Abstract]

11 Animal products and K-ras codon 12 and 13 mutations in colon carcinomas
article 2000    
Author: Kampman, E. · Voskuil, D.W. · Kraats, A.A. van · Balder, H.F. · Muijen, G.N.P. van · Goldbohm, R.A. · Veer, P. van 't
Keywords: Nutrition · Calcium · Protein · Adult · Aged · Allele · Animal · Cancer risk · Case control study · Codon · Colon cancer · Controlled study · Diet · Female · Gene mutation · Human · Major clinical study · Male · Meat · Oncogene K ras · Polymerase chain reaction · Poultry · Priority journal · Statistical analysis · Animals · Calcium, Dietary · Carcinoma · Case-Control Studies · Codon · Colonic Neoplasms · Dairy Products · Dietary Fats · Dietary Proteins · DNA Adducts · DNA Mutational Analysis · DNA, Neoplasm · Female · Fishes · Food Habits · Genes, ras · Humans · Male · Meat · Middle Aged · Mutation · Netherlands · Odds Ratio · Polymerase Chain Reaction · Poultry · Questionnaires
[Abstract]

12 A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an ehlers-danlos VIA patient
article 2005    
Author: Walker, L.C. · Overstreet, M.A. · Siddiqui, A. · Paepe, A. de · Ceylaner, G. · Malfait, F. · Symoens, S. · Atsawasuwan, P. · Yamauchi, M. · Ceylaner, S. · Bank, R.A. · Yeowell, H.N.
Keywords: Collagen cross-linking · Collagen disorders · Collagen hydroxylation · Human skin fibroblasts · Mutation analysis · complementary DNA · genomic DNA · Anamnesis · Baculovirus expression system · Case report · Cross linking · DNA determination · Ehlers Danlos syndrome · Enzyme active site · Enzyme activity · Gene expression · Gene mutation · Heterozygosity · Homozygosity · Joint laxity · Kyphoscoliosis · Mutational analysis · Phenotype · Preschool child · Protein folding · Skin fibroblast · Child, Preschool · Ehlers-Danlos Syndrome · Female · Humans · Mutation · Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase · Structure-Activity Relationship
[Abstract]

13 Mutational analysis of pea lectin: Substitution of Asn125 for Asp in the monosaccharide-binding site eliminates mannose/glucose-binding activity
article 1992    
Author: Eijsden, R.R. van · Hoedemaeker, F.J. · Díaz, C.L. · Lugtenberg, B.J.J. · Sylvia Pater, B. de · Kijne, J.W.
Keywords: mutagenesis · pea lectin · sugar binding · mannose · oligodeoxyribonucleotide · pea lectin · phytohemagglutinin · amino acid sequence · binding site · chemistry · comparative study · Escherichia coli · genetics · legume · medicinal plant · metabolism · molecular genetics · nucleotide sequence · site directed mutagenesis · structure activity relation · Amino Acid Sequence · Asparagine · Aspartic Acid · Base Sequence · Binding Sites · Calcium · Comparative Study · DNA Mutational Analysis · Escherichia coli · Fabaceae · Glucose · Lectins · Manganese · Mannose · Molecular Sequence Data · Mutagenesis, Site-Directed · Oligodeoxyribonucleotides · Phytohemagglutinins · Plants, Medicinal · Sequence Alignment · Structure-Activity Relationship
[Abstract]

14 Characterization of the Aspergillus niger prtT, a unique regulator of extracellular protease encoding genes
article 2008    
Author: Punt, P.J. · Schuren, F.H.J. · Lehmbeck, J. · Christensen, T. · Hjort, C. · Hondel, C.A.M.J.J. van den
Keywords: Biology · AmdS selection · Aspergillus · Complementation · Cosmid library · Gene cloning · Protease mutants · Regulation · Self replicating vector · Upstream open reading frames · Zn2Cys6 finger protein · alkaline proteinase · amylase · article · Aspergillus niger · cosmid · fungal gene · gene cluster · gene control · gene expression · gene isolation · gene library · gene mutation · gene sequence · genetic analysis · genetic code · genetic selection · genetic trait · molecular cloning · mutational analysis · nonhuman · nucleotide sequence · priority journal · prtT gene · regulator gene · RNA splicing · Aspergillus niger · Aspergillus oryzae · Blotting, Northern · Cloning, Molecular · Cosmids · Fungal Proteins · Gene Deletion · Gene Expression Profiling · Gene Library · Genetic Complementation Test · Multigene Family · Peptide Hydrolases · Sequence Homology, Amino Acid · Synteny · Transcription Factors · Aspergillus · Aspergillus niger · Aspergillus oryzae · Emericella nidulans
[Abstract]

15 K-ras oncogene mutations in sporadic colorectal cancer in The Netherlands Cohort Study
article 2003    
Author: Brink, M. · Goeij, A.F.P.M. de · Weijenberg, M.P. · Roemen, G.M.J.M. · Lentjes, M.H.F.M. · Pachen, M.M.M. · Smits, K.M. · Bruïne, A.P. de · Goldbohm, R.A. · Brandt, P.A. van den
Keywords: Health Biology · Food and Chemical Risk Analysis · adenine · DNA fragment · guanine · thymine · adult · aged · cancer cell culture · cancer growth · cancer localization · cancer risk · cancer staging · cancer tissue · codon · cohort analysis · colon carcinogenesis · colorectal cancer · controlled study · correlation analysis · DNA purification · environmental factor · exon · familial cancer · family history · female · gene mutation · gene sequence · histopathology · human · human cell · human tissue · incidence · major clinical study · male · mutational analysis · Netherlands · nucleic acid base substitution · oncogene K ras · polymerase chain reaction · priority journal · reproducibility · review · tumor biopsy · tumor differentiation · validation process · Base Sequence · Cohort Studies · Colorectal Neoplasms · DNA Primers · Genes, ras · Humans · Mutation · Netherlands
[Abstract]

16 A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype
article 2015    
Author: Terhal, P.A. · Nievelstein, R.J.A.J. · Verver, E.J.J. · Topsakal, V. · Dommelen, P. van · Hoornaert, K. · Merrer, M. le · Zankl, A. · Simon, M.E. · Smithson, S.F. · Marcelis, C. · Kerr, B. · Clayton-Smith, J. · Kinning, E. · Mansour, S. · Elmslie, F. · Goodwin, L. · Hout, A.H. van der · Veenstra-Knol, H.E. · Herkert, J.C. · Lund, A.M. · Hennekam, R.C. · Mégarbané, A. · Lees, M.M. · Wilson, L.C. · Male, A. · Hurst, J. · Alanay, Y. · Annerén, G. · Betz, R.C. · Bongers, E.M. · Cormier-Daire, V. · Dieux, A. · David, A. · Elting, M.W. · Ende, J. van den · Green, A. · Hagen, J.M. van · Hertel, N.T. · Holder-Espinasse, M. · Hollander, N. den · Homfray, T. · Hove, H.D. · Price S · Raas-Rothschild, A. · Rohrbach, M. · Schroeter, B. · Suri, M. · Thompson, E.M. · Tobias, E.S. · Toutain, A. · Vreeburg, M. · Wakeling, E. · Knoers, N.V. · Coucke, P. · Mortier, G.R.
Keywords: Health · SEDC · Genotype-phenotype · Spondyloepiphyseal dysplasia · Review · SEDC · Aspartic acid · Glycine · Procollagen · Serine · Adolescent · Amino acid substitution · Atlantoaxial dislocation · Bronchomalacia · Child · Cleft palate · Clinical feature · Clubfoot · COL2A1 gene · Coxa vara · Disease severity · Female · Gene · Gene mutation · Genotype phenotype correlation · Gestational age · Hearing impairment · Heterozygosity · Hip arthroplasty · Hypermetropia · Major clinical study · Male · Missense mutation · Mutational analysis · Myopia · Osteotomy · Pierre Robin syndrome · Population research · Respiratory distress · Retina detachment · School child · Scoliosis · Spondyloepiphyseal dysplasia · Tracheomalacia · Tracheostomy · Healthy for Life · Healthy Living · Behavioural Changes · LS - Life Style · ELSS - Earth, Life and Social Sciences
[Abstract]

17 Fat and K-ras mutations in sporadic colorectal cancer in The Netherlands Cohort Study
article 2004    
Author: Brink, M. · Weijenberg, M.P. · Goeij, A.F.P.M. de · Schouten, L.J. · Koedijk, F.D.H. · Roemen, G.M.J.M. · Lentjes, M.H.F.M. · Bruïne, A.P. de · Goldbohm, R.A. · Brandt, P.A. van den
Keywords: Health · Food and Chemical Risk Analysis · adenine · fat · guanine · K ras protein · linoleic acid · monounsaturated fatty acid · polyunsaturated fatty acid · thymine · unsaturated fatty acid · adult · aged · article · cancer incidence · cancer patient · cancer risk · cohort analysis · colon cancer · colon carcinogenesis · colorectal cancer · confidence interval · controlled study · data analysis · fat intake · female · follow up · gene mutation · human · major clinical study · male · mutational analysis · Netherlands · nucleic acid base substitution · oncogene K ras · priority journal · rectum cancer · risk factor · Aged · Cohort Studies · Colonic Neoplasms · Diet · Fats · Female · Follow-Up Studies · Genes, ras · Humans · Male · Middle Aged · Mutation · Netherlands · Rectal Neoplasms
[Abstract]

18 APC mutations in sporadic coloretal carcinomas from The Netherlands Cohort Study
article 2004    
Author: Lüchtenborg, M. · Weijenberg, M.P. · Roemen, G.M.J.M. · Bruïne, A.P. de · Brandt, P.A. van den · Lentjes, M.H.F.M. · Brink, M. · Engeland, M. van · Goldbohm, R.A. · Goeij, A.F.P.M. de
Keywords: Health · Food and Chemical Risk Analysis · APC protein · Adult · Aged · Ascending colon · Cancer localization · Cancer staging · Carcinogenesis · Codon · Cohort analysis · Colon adenocarcinoma · Colorectal carcinoma · Controlled study · Descending colon · Family history · Female · Frameshift mutation · Gender · Gene cluster · Gene deletion · Gene function · Gene insertion · Gene mutation · Human · Human tissue · Major clinical study · Male · Microdissection · Missense mutation · Mutational analysis · Netherlands · Nonsense mutation · Onset age · Point mutation · Polymerase chain reaction · Priority journal · Rectum carcinoma · Review · Sequence analysis · Tumor differentiation · Tumor localization · Adenomatous Polyposis Coli Protein · Amino Acid Sequence · Base Sequence · Carcinoma · Colorectal Neoplasms · Frameshift Mutation · Middle Aged · Sequence Deletion
[Abstract]

19 RPLC-lon-trap-FTMS method for lipid profiling of plasma: Method validation And application to p53 mutant mouse model
article 2008    
Author: Hu, C. · Dommelen, J. van · Heijden, R. van der · Spijksma, G. · Reijmers, T.H. · Wang, M. · Slee, E. · Lu, X. · Xu, G. · Greef, J. van der · Hankemeier, T.
Keywords: Analytical research · FTMS · Lipid profiling · Lipidomics · Metabolite profiling · Metabolomics · P53 mouse model · Protein p53 · Lipid · Article · Controlled study · High performance liquid chromatography · Human · Ion cyclotron resonance mass spectrometry · Ion trap mass spectrometry · Lipid analysis · Lipid blood level · Mouse · Mutational analysis · Nonhuman · Phenotype · Priority journal · Protein expression · Reversed phase liquid chromatography · Animal · Blood · Cyclotron · Infrared spectroscopy · Liquid chromatography · Methodology · Mouse mutant · Reproducibility · Tandem mass spectrometry · Mus · Animals · Chromatography, Liquid · Cyclotrons · Lipids · Mice · Mice, Mutant Strains · Reproducibility of Results · Spectroscopy, Fourier Transform Infrared · Tandem Mass Spectrometry · Tumor Suppressor Protein p53
[Abstract]

20 p53 Over-expression and p53 mutations in colon carcinomas: Relation to dietary risk factors
article 1999    
Author: Voskuil, D.W. · Kampman, E. · Kraats, A.A. van · Balder, H.F. · Muijen, G.N.P. van · Goldbohm, R.A. · Veer, P. van 't
Keywords: Nutrition · Protein p53 · Saturated fatty acid · Adult · Aged · Cancer risk · Colon carcinoma · Controlled study · CpG island · Dietary intake · Fat intake · Female · Gene mutation · Gene overexpression · Human · Human tissue · Immunohistochemistry · Major clinical study · Male · Meat · Nutrient · Priority journal · Risk factor · Single strand conformation polymorphism · Tumor suppressor gene · Vegetable · Age Factors · Case-Control Studies · Colonic Neoplasms · Diet · DNA Mutational Analysis · Exons · Female · Food Habits · Humans · Immunohistochemistry · Male · Middle Aged · Mutation · Odds Ratio · Polymorphism, Single-Stranded Conformational · Risk Factors · Sex Factors · Tumor Suppressor Protein p53
[Abstract]

Search results also available in MS Excel format.

Showing 1 to 20 of 22 found. Next | Sort by date