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Results: 1-25 | 26-32
Results: 1-25/32
FLOW-CYTOMETRY WITH A MONOCLONAL-ANTIBODY TO THE LOW-DENSITY-LIPOPROTEIN RECEPTOR COMPARED WITH GENE MUTATION DETECTION IN DIAGNOSIS OF HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
Authors: RAUNGAARD B HEATH F BRORHOLTPETERSEN JU JENSEN HK FAERGEMAN O
Citation: B. Raungaard et al., FLOW-CYTOMETRY WITH A MONOCLONAL-ANTIBODY TO THE LOW-DENSITY-LIPOPROTEIN RECEPTOR COMPARED WITH GENE MUTATION DETECTION IN DIAGNOSIS OF HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA, Clinical chemistry, 44(5), 1998, pp. 966-972
A SEQUENCE VARIATION - 713-8DELC IN THE TRANSFORMING GROWTH-FACTOR-BETA-1 GENE HAS HIGHER PREVALENCE IN OSTEOPOROTIC WOMEN THAN IN NORMAL WOMEN AND IS ASSOCIATED WITH VERY-LOW BONE MASS IN OSTEOPOROTIC WOMEN AND INCREASED BONE TURNOVER IN BOTH OSTEOPOROTIC AND NORMAL WOMEN
Authors: LANGDAHL BL KNUDSEN JY JENSEN HK GREGERSEN N ERIKSEN EF
Citation: Bl. Langdahl et al., A SEQUENCE VARIATION - 713-8DELC IN THE TRANSFORMING GROWTH-FACTOR-BETA-1 GENE HAS HIGHER PREVALENCE IN OSTEOPOROTIC WOMEN THAN IN NORMAL WOMEN AND IS ASSOCIATED WITH VERY-LOW BONE MASS IN OSTEOPOROTIC WOMEN AND INCREASED BONE TURNOVER IN BOTH OSTEOPOROTIC AND NORMAL WOMEN, Bone, 20(3), 1997, pp. 289-294
PHENOTYPIC VARIATION IN PATIENTS HETEROZYGOUS FOR FAMILIAL DEFECTIVE APOLIPOPROTEIN-B (FDB) IN 3 EUROPEAN COUNTRIES
Authors: HANSEN PS DEFESCHE JC KASTELEIN JJP GERDES LU FRAZA L GERDES C TATO F JENSEN HK JENSEN LG KLAUSEN IC FAERGEMAN O SCHUSTER H
Citation: Ps. Hansen et al., PHENOTYPIC VARIATION IN PATIENTS HETEROZYGOUS FOR FAMILIAL DEFECTIVE APOLIPOPROTEIN-B (FDB) IN 3 EUROPEAN COUNTRIES, Arteriosclerosis, thrombosis, and vascular biology, 17(4), 1997, pp. 741-747
2 MUTATIONS IN THE SAME LOW-DENSITY-LIPOPROTEIN RECEPTOR ALLELE ACT IN SYNERGY TO REDUCE RECEPTOR FUNCTION IN HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
Authors: JENSEN HK JENSEN TG FAERGEMAN O JENSEN LG ANDRESEN BS CORYDON MJ ANDREASEN PH HANSEN PS HEATH F BOLUND L GREGERSEN N
Citation: Hk. Jensen et al., 2 MUTATIONS IN THE SAME LOW-DENSITY-LIPOPROTEIN RECEPTOR ALLELE ACT IN SYNERGY TO REDUCE RECEPTOR FUNCTION IN HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA, Human mutation, 9(5), 1997, pp. 437-444
RECOMBINANT URACIL PHOSPHORIBOSYLTRANSFERASE FROM THE THERMOPHILE BACILLUS-CALDOLYTICUS - EXPRESSION, PURIFICATION, AND PARTIAL CHARACTERIZATION
Authors: JENSEN HK MIKKELSEN N NEUHARD J
Citation: Hk. Jensen et al., RECOMBINANT URACIL PHOSPHORIBOSYLTRANSFERASE FROM THE THERMOPHILE BACILLUS-CALDOLYTICUS - EXPRESSION, PURIFICATION, AND PARTIAL CHARACTERIZATION, Protein expression and purification, 10(3), 1997, pp. 356-364
FUNCTIONAL-CHARACTERIZATION OF LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE-MUTATIONS IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA
Authors: RAUNGAARD B HEATH F BRORHOLTPETERSEN JU JENSEN HK FAERGEMAN O
Citation: B. Raungaard et al., FUNCTIONAL-CHARACTERIZATION OF LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE-MUTATIONS IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA, Atherosclerosis, 134(1-2), 1997, pp. 361-361
A COMMON W556S MUTATION IN THE LDL RECEPTOR GENE OF DANISH PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA ENCODES A TRANSPORT-DEFECTIVE PROTEIN
Authors: JENSEN HK HOLST H JENSEN LG JORGENSEN MM ANDREASEN PH JENSEN TG ANDRESEN BS HEATH F HANSEN PS NEVE S KRISTIANSEN K FAERGEMAN O KOLVRAA S BOLUND L GREGERSEN N
Citation: Hk. Jensen et al., A COMMON W556S MUTATION IN THE LDL RECEPTOR GENE OF DANISH PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA ENCODES A TRANSPORT-DEFECTIVE PROTEIN, Atherosclerosis, 131(1), 1997, pp. 67-72
CHANGES IN ATTITUDE TO DETECTION AND TREATMENT OF FAMILIAL HYPERCHOLESTEROLEMIA AFTER DNA-DIAGNOSIS
Authors: ANDERSEN LK JENSEN HK FAERGEMAN O
Citation: Lk. Andersen et al., CHANGES IN ATTITUDE TO DETECTION AND TREATMENT OF FAMILIAL HYPERCHOLESTEROLEMIA AFTER DNA-DIAGNOSIS, Atherosclerosis, 129(1), 1997, pp. 16-16
PATIENTS ATTITUDES TOWARD DETECTION OF HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
Authors: ANDERSEN LK JENSEN HK JUUL S FAERGEMAN O
Citation: Lk. Andersen et al., PATIENTS ATTITUDES TOWARD DETECTION OF HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA, Archives of internal medicine, 157(5), 1997, pp. 553-560
ALLELE-SPECIFIC MEASUREMENT OF LOW-DENSITY-LIPOPROTEIN RECEPTOR TRANSCRIPT LEVELS
Authors: JENSEN LG JENSEN HK HEATH F EIBERG H KJELDSEN M FAERGEMAN O KOLVRAA S BOLUND L GREGERSEN N
Citation: Lg. Jensen et al., ALLELE-SPECIFIC MEASUREMENT OF LOW-DENSITY-LIPOPROTEIN RECEPTOR TRANSCRIPT LEVELS, Human mutation, 8(2), 1996, pp. 126-133
2 POINT MUTATIONS (313-]A AND 313+1G-]T) IN THE SPLICE DONOR SITE OF INTRON-3 OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE ARE ASSOCIATED WITH FAMILIAL HYPERCHOLESTEROLEMIA(1G)
Authors: JENSEN HK JENSEN LG HANSEN PS FAERGEMAN O GREGERSEN N
Citation: Hk. Jensen et al., 2 POINT MUTATIONS (313-]A AND 313+1G-]T) IN THE SPLICE DONOR SITE OF INTRON-3 OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE ARE ASSOCIATED WITH FAMILIAL HYPERCHOLESTEROLEMIA(1G), Human mutation, 7(3), 1996, pp. 269-271
AN LDL RECEPTOR PROMOTER MUTATION IN A HETEROZYGOUS FH PATIENT WITH DRAMATICALLY SKEWED RATIO BETWEEN THE 2 ALLELIC MESSENGER-RNA VARIANTS
Authors: JENSEN LG JENSEN HK NISSEN H KRISTIANSEN K FAERGEMAN O BOLUND L GREGERSEN N
Citation: Lg. Jensen et al., AN LDL RECEPTOR PROMOTER MUTATION IN A HETEROZYGOUS FH PATIENT WITH DRAMATICALLY SKEWED RATIO BETWEEN THE 2 ALLELIC MESSENGER-RNA VARIANTS, Human mutation, 7(1), 1996, pp. 82-84
IDENTIFICATION OF A NOVEL MUTATION IN EXON-13 OF THE LDL RECEPTOR GENE CAUSING FAMILIAL HYPERCHOLESTEROLEMIA IN 2 SPANISH FAMILIES
Authors: CENARRO A JENSEN HK CASAO E CIVEIRA F GONZALEZBONILLO J POCOVI M GREGERSEN N
Citation: A. Cenarro et al., IDENTIFICATION OF A NOVEL MUTATION IN EXON-13 OF THE LDL RECEPTOR GENE CAUSING FAMILIAL HYPERCHOLESTEROLEMIA IN 2 SPANISH FAMILIES, Biochimica et biophysica acta. Molecular basis of disease, 1316(1), 1996, pp. 1-4
THE TRP(23)-STOP AND TRP(66)-GLY MUTATIONS IN THE LDL RECEPTOR GENE -COMMON CAUSES OF FAMILIAL HYPERCHOLESTEROLEMIA IN DENMARK
Authors: JENSEN HK JENSEN LG HANSEN PS FAERGEMAN O GREGERSEN N
Citation: Hk. Jensen et al., THE TRP(23)-STOP AND TRP(66)-GLY MUTATIONS IN THE LDL RECEPTOR GENE -COMMON CAUSES OF FAMILIAL HYPERCHOLESTEROLEMIA IN DENMARK, Atherosclerosis, 120(1-2), 1996, pp. 57-65
PHENOTYPIC CHARACTERIZATION OF A PATIENT HOMOZYGOUS FOR THE D558N LDLRECEPTOR GENE MUTATION
Authors: JENSEN HK JENSEN LG HEATH F MELSEN F HANSEN PS MEINERTZ H BOLUND L GREGERSEN N FAERGEMAN O
Citation: Hk. Jensen et al., PHENOTYPIC CHARACTERIZATION OF A PATIENT HOMOZYGOUS FOR THE D558N LDLRECEPTOR GENE MUTATION, Clinical genetics, 50(5), 1996, pp. 388-392
A G(-1)-TO-A ACCEPTOR SPLICE-SITE LDLR MUTANT ALLELE LEADS TO REDUCEDRELATIVE TRANSCRIPT LEVELS IN PATIENTS WITH HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
Authors: JENSEN HK JENSEN LG HANSEN PS BOLUND L FAERGEMAN O GREGERSEN N
Citation: Hk. Jensen et al., A G(-1)-TO-A ACCEPTOR SPLICE-SITE LDLR MUTANT ALLELE LEADS TO REDUCEDRELATIVE TRANSCRIPT LEVELS IN PATIENTS WITH HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA, Clinical genetics, 49(4), 1996, pp. 175-179
2 NOVEL MUTATIONS IN THE LDL RECEPTOR GENE - COMMON CAUSES OF FAMILIAL HYPERCHOLESTEROLEMIA IN A SPANISH POPULATION
Authors: CENARRO A JENSEN HK CIVEIRA F CASAO E FERRANDO J GONZALEZBONILLO J POCOVI M GREGERSEN N
Citation: A. Cenarro et al., 2 NOVEL MUTATIONS IN THE LDL RECEPTOR GENE - COMMON CAUSES OF FAMILIAL HYPERCHOLESTEROLEMIA IN A SPANISH POPULATION, Clinical genetics, 49(4), 1996, pp. 180-185
AN IRANIAN ARMENIAN LDLR FRAMESHIFT MUTATION CAUSING FAMILIAL HYPERCHOLESTEROLEMIA
Authors: JENSEN HK JENSEN LG HANSEN PS FAERGEMAN O GREGERSEN N
Citation: Hk. Jensen et al., AN IRANIAN ARMENIAN LDLR FRAMESHIFT MUTATION CAUSING FAMILIAL HYPERCHOLESTEROLEMIA, Clinical genetics, 49(2), 1996, pp. 88-90
HIGH-SENSITIVITY OF THE SINGLE-STRAND CONFORMATION POLYMORPHISM METHOD FOR DETECTING SEQUENCE VARIATIONS IN THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE VALIDATED BY DNA-SEQUENCING
Authors: JENSEN HK JENSEN LG HANSEN PS FAERGEMAN O GREGERSEN N
Citation: Hk. Jensen et al., HIGH-SENSITIVITY OF THE SINGLE-STRAND CONFORMATION POLYMORPHISM METHOD FOR DETECTING SEQUENCE VARIATIONS IN THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE VALIDATED BY DNA-SEQUENCING, Clinical chemistry, 42(8), 1996, pp. 1140-1146
MUTATIONS IN THE TGF-BETA-1 GENE ARE CORRELATED TO LOW BONE MASS AND INCREASED BONE TURNOVER
Authors: LANGDAHL BL BRIXEN K JENSEN HK GREGERSEN N ERIKSEN EF
Citation: Bl. Langdahl et al., MUTATIONS IN THE TGF-BETA-1 GENE ARE CORRELATED TO LOW BONE MASS AND INCREASED BONE TURNOVER, Journal of bone and mineral research, 10, 1995, pp. 185-185
A FREQUENT HHAL POLYMORPHISM IN INTRON-9 OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE DETECTED BY THE DENATURING GRADIENT GEL-ELECTROPHORESIS TECHNIQUE
Authors: NISSEN H HANSEN ABB JENSEN HK
Citation: H. Nissen et al., A FREQUENT HHAL POLYMORPHISM IN INTRON-9 OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE DETECTED BY THE DENATURING GRADIENT GEL-ELECTROPHORESIS TECHNIQUE, Clinical genetics, 48(4), 1995, pp. 221-222
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
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
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
Risultati: 1-25 | 26-32