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Results: 1-25 | 26-50 | 51-74 |
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HUMAN CLPP PROTEASE - CDNA SEQUENCE, TISSUE-SPECIFIC EXPRESSION AND CHROMOSOMAL ASSIGNMENT OF THE GENE
Authors: BROSS P ANDRESEN BS KNUDSEN I KRUSE TA GREGERSEN N
Citation: P. Bross et al., HUMAN CLPP PROTEASE - CDNA SEQUENCE, TISSUE-SPECIFIC EXPRESSION AND CHROMOSOMAL ASSIGNMENT OF THE GENE, FEBS letters, 377(2), 1995, pp. 249-252
COMPLEXITY OF MOLECULAR-GENETICS OF DYSLIPIDEMIA IN A FAMILY HIGHLY SUSCEPTIBLE TO ISCHEMIC-HEART-DISEASE
Authors: JENSEN HK HANSEN PS JENSEN LG KRISTENSEN MJ KLAUSEN IC KJELDSEN M LEMMING L BOLUND L GREGERSEN N FAERGEMAN O
Citation: Hk. Jensen et al., COMPLEXITY OF MOLECULAR-GENETICS OF DYSLIPIDEMIA IN A FAMILY HIGHLY SUSCEPTIBLE TO ISCHEMIC-HEART-DISEASE, Clinical genetics, 48(1), 1995, pp. 23-28
IMPROVED RNASE PROTECTION ASSAY FOR QUANTIFYING LDL-RECEPTOR MESSENGER-RNA - ESTIMATION OF ANALYTICAL IMPRECISION AND BIOLOGICAL VARIANCE IN PERIPHERAL-BLOOD MONONUCLEAR-CELLS
Authors: PETERSEN NE LARSEN LK NISSEN H JENSEN LG JENSEN A PETERSEN PH HORDER M GREGERSEN N KRISTIANSEN K
Citation: Ne. Petersen et al., IMPROVED RNASE PROTECTION ASSAY FOR QUANTIFYING LDL-RECEPTOR MESSENGER-RNA - ESTIMATION OF ANALYTICAL IMPRECISION AND BIOLOGICAL VARIANCE IN PERIPHERAL-BLOOD MONONUCLEAR-CELLS, Clinical chemistry, 41(11), 1995, pp. 1605-1613
SEROTONIN DEPLETION DECREASES SEROTONIN TRANSPORTER MESSENGER-RNA LEVELS IN RAT-BRAIN
Authors: LINNET K KOED K WIBORG O GREGERSEN N
Citation: K. Linnet et al., SEROTONIN DEPLETION DECREASES SEROTONIN TRANSPORTER MESSENGER-RNA LEVELS IN RAT-BRAIN, Brain research, 697(1-2), 1995, pp. 251-253
CHARACTERIZATION OF A DISEASE-CAUSING GLU119-LYS MUTATION IN THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE IN 2 DANISH FAMILIES WITH HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
Authors: JENSEN HK JENSEN TG JENSEN LG HANSEN PS KJELDSEN M ANDRESEN BS NIELSEN V MEINERTZ H HANSEN AB BOLUND L FAERGEMAN O GREGERSEN N
Citation: Hk. Jensen et al., CHARACTERIZATION OF A DISEASE-CAUSING GLU119-LYS MUTATION IN THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE IN 2 DANISH FAMILIES WITH HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA, Human mutation, 4(2), 1994, pp. 102-113
CHARACTERISTICS OF 46 HETEROZYGOUS CARRIERS AND 57 UNAFFECTED RELATIVES IN 5 DANISH FAMILIES WITH FAMILIAL DEFECTIVE APOLIPOPROTEIN B-100
Authors: HANSEN PS MEINERTZ H JENSEN HK FRUERGAARD P LAUNBJERG J KLAUSEN IC LEMMING L GERDES U GREGERSEN N FAERGEMAN O
Citation: Ps. Hansen et al., CHARACTERISTICS OF 46 HETEROZYGOUS CARRIERS AND 57 UNAFFECTED RELATIVES IN 5 DANISH FAMILIES WITH FAMILIAL DEFECTIVE APOLIPOPROTEIN B-100, Arteriosclerosis and thrombosis, 14(2), 1994, pp. 207-213
AMINO-ACID POLYMORPHISM (GLY209SER) IN THE ACADS GENE
Authors: KRISTENSEN MJ KMOCH S BROSS P ANDRESEN BS GREGERSEN N
Citation: Mj. Kristensen et al., AMINO-ACID POLYMORPHISM (GLY209SER) IN THE ACADS GENE, Human molecular genetics, 3(9), 1994, pp. 1711-1711
APOLIPOPROTEIN-B AND APOLIPOPROTEIN-E GENE POLYMORPHISMS AND ASSOCIATION WITH PLASMA-LIPIDS AND ATHEROSCLEROTIC-DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA
Authors: HANSEN PS JENSEN HK MEINERTZ H HANSEN ABB KLAUSEN IC GERDES LU HORDER M GREGERSEN N FAERGEMAN O
Citation: Ps. Hansen et al., APOLIPOPROTEIN-B AND APOLIPOPROTEIN-E GENE POLYMORPHISMS AND ASSOCIATION WITH PLASMA-LIPIDS AND ATHEROSCLEROTIC-DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, NMCD. Nutrition Metabolism and Cardiovascular Diseases, 4(4), 1994, pp. 204-208
CHARACTERIZATION OF WILD-TYPE HUMAN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) AND MUTANT ENZYMES PRESENT IN MCAD-DEFICIENT PATIENTS BY 2-DIMENSIONAL GEL-ELECTROPHORESIS - EVIDENCE FOR POSTTRANSLATIONAL MODIFICATION OF THE ENZYME
Authors: BROSS P JENSEN TG ANDRESEN BS KJELDSEN M NANDY A KOLVRAA S GHISLA S RASCHED I BOLUND L GREGERSEN N
Citation: P. Bross et al., CHARACTERIZATION OF WILD-TYPE HUMAN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) AND MUTANT ENZYMES PRESENT IN MCAD-DEFICIENT PATIENTS BY 2-DIMENSIONAL GEL-ELECTROPHORESIS - EVIDENCE FOR POSTTRANSLATIONAL MODIFICATION OF THE ENZYME, Biochemical medicine and metabolic biology, 52(1), 1994, pp. 36-44
DETECTION OF A POINT MUTATION USING SHORT OLIGONUCLEOTIDE PROBES IN ALLELE-SPECIFIC HYBRIDIZATION
Authors: IITIA A MIKOLA M GREGERSEN N HURSKAINEN P LOVGREN T
Citation: A. Iitia et al., DETECTION OF A POINT MUTATION USING SHORT OLIGONUCLEOTIDE PROBES IN ALLELE-SPECIFIC HYBRIDIZATION, BioTechniques, 17(3), 1994, pp. 566-573
MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY DUE TO HETEROZYGOSITY FOR THE COMMON MUTATION AND AN ALLELE RESULTING IN LOW-LEVELS OF MCAD MESSENGER-RNA
Authors: ANDRESEN BS BROSS P KNUDSEN I WINTER V KOLVRAA S BOLUND L GREGERSEN N
Citation: Bs. Andresen et al., MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY DUE TO HETEROZYGOSITY FOR THE COMMON MUTATION AND AN ALLELE RESULTING IN LOW-LEVELS OF MCAD MESSENGER-RNA, Journal of inherited metabolic disease, 17(3), 1994, pp. 275-278
MOLECULAR-GENETIC CHARACTERIZATION AND URINARY-EXCRETION PATTERN OF METABOLITES IN 2 FAMILIES WITH MCAD DEFICIENCY DUE TO COMPOUND HETEROZYGOSITY WITH A 13 BASE-PAIR INSERTION IN ONE ALLELE
Authors: GREGERSEN N WINTER V LYONNET S SAUDUBRAY JM WENDEL U JENSEN TG ANDRESEN BS KOLVRAA S BOLUND L CHRISTENSEN E BROSS P LEHNERT W
Citation: N. Gregersen et al., MOLECULAR-GENETIC CHARACTERIZATION AND URINARY-EXCRETION PATTERN OF METABOLITES IN 2 FAMILIES WITH MCAD DEFICIENCY DUE TO COMPOUND HETEROZYGOSITY WITH A 13 BASE-PAIR INSERTION IN ONE ALLELE, Journal of inherited metabolic disease, 17(2), 1994, pp. 169-184
AN ALANINE(29)-SERINE VARIANT IN EXON-2 OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE - NO ASSOCIATION WITH HYPERCHOLESTEROLEMIA
Authors: JENSEN HK JENSEN LG HANSEN PS PETERSEN LS GERDES LU BOLUND L FAERGEMAN O GREGERSEN N
Citation: Hk. Jensen et al., AN ALANINE(29)-SERINE VARIANT IN EXON-2 OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE - NO ASSOCIATION WITH HYPERCHOLESTEROLEMIA, Clinical genetics, 46(2), 1994, pp. 214-215
APOLIPOPROTEIN-B GENE POLYMORPHISMS IN ISCHEMIC-HEART-DISEASE AND HYPERCHOLESTEROLEMIA - EFFECTS OF AGE AND SEX
Authors: HANSEN PS KLAUSEN IC LEMMING L GERDES LU GREGERSEN N FAERGEMAN O
Citation: Ps. Hansen et al., APOLIPOPROTEIN-B GENE POLYMORPHISMS IN ISCHEMIC-HEART-DISEASE AND HYPERCHOLESTEROLEMIA - EFFECTS OF AGE AND SEX, Clinical genetics, 45(2), 1994, pp. 78-83
A NEW, HIGHLY INFORMATIVE SMAI POLYMORPHISM IN INTRON-7 OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR (LDLR) GENE
Authors: JENSEN LG JENSEN HK KJELDSEN M GERDES LU HANSEN PS FAERGEMAN O KOLVRAA S BOLUND L GREGERSEN N
Citation: Lg. Jensen et al., A NEW, HIGHLY INFORMATIVE SMAI POLYMORPHISM IN INTRON-7 OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR (LDLR) GENE, Clinical genetics, 45(1), 1994, pp. 52-53
A RARE SILENT C-MUTATION TO T-MUTATION IN EXON-7 OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR (LDLR) GENE
Authors: JENSEN HK JENSEN LG HANSEN PS KJELDSEN M GERDES LU BOLUND L FAERGEMAN O GREGERSEN N
Citation: Hk. Jensen et al., A RARE SILENT C-MUTATION TO T-MUTATION IN EXON-7 OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR (LDLR) GENE, Clinical genetics, 45(1), 1994, pp. 54-55
GENOTYPING COMPARED WITH PROTEIN PHENOTYPING OF THE COMMON APOLIPOPROTEIN-E POLYMORPHISM
Authors: HANSEN PS GERDES LU KLAUSEN IC GREGERSEN N FAERGEMAN O
Citation: Ps. Hansen et al., GENOTYPING COMPARED WITH PROTEIN PHENOTYPING OF THE COMMON APOLIPOPROTEIN-E POLYMORPHISM, Clinica chimica acta, 224(2), 1994, pp. 131-137
DISEASE-CAUSING MUTATIONS IN EXON-II OF THE MEDIUM-CHAIN ACYL-COA DEHYDROGENASE GENE
Authors: ANDRESEN BS JENSEN TG BROSS P KNUDSEN I WINTER V KOLVRAA S BOLUND L DING JH CHEN YT VANHOVE JLK CURTIS D YOKOTA I TANAKA K KIM JJP GREGERSEN N
Citation: Bs. Andresen et al., DISEASE-CAUSING MUTATIONS IN EXON-II OF THE MEDIUM-CHAIN ACYL-COA DEHYDROGENASE GENE, American journal of human genetics, 54(6), 1994, pp. 975-988
THE FREQUENCY OF A DISEASE-CAUSING POINT MUTATION IN THE GENE CODING FOR MEDIUM-CHAIN ACYL-COA DEHYDROGENASE IN SUDDEN-INFANT-DEATH-SYNDROME
Authors: LUNDEMOSE JB GREGERSEN N KOLVRAA S PEDERSEN BN GREGERSEN M HELWEGLARSEN K SIMONSEN J
Citation: Jb. Lundemose et al., THE FREQUENCY OF A DISEASE-CAUSING POINT MUTATION IN THE GENE CODING FOR MEDIUM-CHAIN ACYL-COA DEHYDROGENASE IN SUDDEN-INFANT-DEATH-SYNDROME, Acta paediatrica, 82(6-7), 1993, pp. 544-546
CO-OVEREXPRESSION OF BACTERIAL GROESL CHAPERONINS PARTLY OVERCOMES NONPRODUCTIVE FOLDING AND TETRAMER ASSEMBLY OF E-COLI-EXPRESSED HUMAN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) CARRYING THE PREVALENT DISEASE-CAUSING K304E MUTATION
Authors: BROSS P ANDRESEN BS WINTER V KRAUTLE F JENSEN TG NANDY A KOLVRAA S GHISLA S BOLUND L GREGERSEN N
Citation: P. Bross et al., CO-OVEREXPRESSION OF BACTERIAL GROESL CHAPERONINS PARTLY OVERCOMES NONPRODUCTIVE FOLDING AND TETRAMER ASSEMBLY OF E-COLI-EXPRESSED HUMAN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) CARRYING THE PREVALENT DISEASE-CAUSING K304E MUTATION, Biochimica et biophysica acta, 1182(3), 1993, pp. 264-274
NEW POINT MUTATIONS IN SHORT-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY
Authors: KRISTENSEN MJ BHALA A HALE DE JENSEN TG GREGERSEN N
Citation: Mj. Kristensen et al., NEW POINT MUTATIONS IN SHORT-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY, American journal of human genetics, 53(3), 1993, pp. 915-915
A RARE DISEASE-ASSOCIATED MUTATION IN THE MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) GENE CHANGES A CONSERVED ARGININE, PREVIOUSLY SHOWN TOBE FUNCTIONALLY ESSENTIAL IN SHORT-CHAIN ACYL-COA DEHYDROGENASE (SCAD)
Authors: ANDRESEN BS BROSS P JENSEN TG WINTER V KNUDSEN I KOLVRAA S JENSEN UB BOLUND L DURAN M KIM JJ CURTIS D DIVRY P VIANEYSABAN C GREGERSEN N
Citation: Bs. Andresen et al., A RARE DISEASE-ASSOCIATED MUTATION IN THE MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) GENE CHANGES A CONSERVED ARGININE, PREVIOUSLY SHOWN TOBE FUNCTIONALLY ESSENTIAL IN SHORT-CHAIN ACYL-COA DEHYDROGENASE (SCAD), American journal of human genetics, 53(3), 1993, pp. 730-739
3 RFLPS DEFINING A HAPLOTYPE ASSOCIATED WITH THE COMMON MUTATION IN HUMAN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY OCCUR IN ALU REPEATS
Authors: ZHANG ZF KOLVRAA S ZHOU YQ KELLY DP GREGERSEN N STRAUSS AW
Citation: Zf. Zhang et al., 3 RFLPS DEFINING A HAPLOTYPE ASSOCIATED WITH THE COMMON MUTATION IN HUMAN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY OCCUR IN ALU REPEATS, American journal of human genetics, 52(6), 1993, pp. 1111-1121
MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY - THE PREVALENTMUTATION G985 (K304E) IS SUBJECT TO A STRONG FOUNDER EFFECT FROM NORTHWESTERN EUROPE
Authors: GREGERSEN N WINTER V CURTIS D DEUFEL T MACK M HENDRICKX J WILLEMS PJ PONZONE A PARELLA T PONZONE R DING JH ZHANG W CHEN YT KAHLER S ROE CR KOLVRAA S SCHNEIDERMAN K ANDRESEN BS BROSS P BOLUND L
Citation: N. Gregersen et al., MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY - THE PREVALENTMUTATION G985 (K304E) IS SUBJECT TO A STRONG FOUNDER EFFECT FROM NORTHWESTERN EUROPE, Human heredity, 43(6), 1993, pp. 342-350
Risultati: 1-25 | 26-50 | 51-74 |