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Results: 1-25 | 26-32
Results: 1-25/32
MOLECULAR CHARACTERIZATION OF 4 NEW MUTATIONS IN THE GENES FOR KERATIN-5 AND KERATIN-14 ASSOCIATED WITH THE DISEASE EPIDERMOLYSIS-BULLOSA SIMPLEX IN 7 SEEMINGLY UNRELATED PATIENTS
Authors: JENSEN PKA SORENSEN CB LADEKJAERMIKKELSEN AS ANDRESEN BS EIBERG H KRUSE T BOLUND L GREGERSEN N
Citation: Pka. Jensen et al., MOLECULAR CHARACTERIZATION OF 4 NEW MUTATIONS IN THE GENES FOR KERATIN-5 AND KERATIN-14 ASSOCIATED WITH THE DISEASE EPIDERMOLYSIS-BULLOSA SIMPLEX IN 7 SEEMINGLY UNRELATED PATIENTS, European journal of human genetics, 6, 1998, pp. 1006-1006
IDENTIFICATION OF 4 NEW MUTATIONS IN THE SHORT-CHAIN ACYL-COA DEHYDROGENASE (SCAD) GENE IN 2 PATIENTS - ONE OF THE VARIANT ALLELES, 511C-]T, IS PRESENT AT AN UNEXPECTEDLY HIGH-FREQUENCY IN THE GENERAL-POPULATION, AS WAS THE CASE FOR 625G-]A, TOGETHER CONFERRING SUSCEPTIBILITY TOETHYLMALONIC ACIDURIA
Authors: GREGERSEN N WINTER VS CORYDON MJ CORYDON TJ RINALDO P RIBES A MARTINEZ G BENNETT MJ VIANEYSABAN C BHALA A HALE DE LEHNERT W KMOCH S ROIG M RIUDOR E EIBERG H ANDRESEN BS BROSS P BOLUND LA KOLVRAA S
Citation: N. Gregersen et al., IDENTIFICATION OF 4 NEW MUTATIONS IN THE SHORT-CHAIN ACYL-COA DEHYDROGENASE (SCAD) GENE IN 2 PATIENTS - ONE OF THE VARIANT ALLELES, 511C-]T, IS PRESENT AT AN UNEXPECTEDLY HIGH-FREQUENCY IN THE GENERAL-POPULATION, AS WAS THE CASE FOR 625G-]A, TOGETHER CONFERRING SUSCEPTIBILITY TOETHYLMALONIC ACIDURIA, Human molecular genetics, 7(4), 1998, pp. 619-627
VERY LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY WITH ADULT-ONSET
Authors: SMELT AHM POORTHUIS BJHM ONKENHOUT W SCHOLTE HR ANDRESEN BS VANDUINEN SG GREGERSEN N WINTZEN AR
Citation: Ahm. Smelt et al., VERY LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY WITH ADULT-ONSET, Annals of neurology, 43(4), 1998, pp. 540-544
MUTATIONS OF HUMAN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE
Authors: UDVARI S BROSS P ANDRESEN BS GREGERSEN N ENGEL PC
Citation: S. Udvari et al., MUTATIONS OF HUMAN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE, Biochemical Society transactions, 26(1), 1998, pp. 65-65
MOLECULAR CHARACTERIZATION OF 4 NEW MUTATIONS IN THE GENES FOR KERATIN-5 AND KERATIN-14 ASSOCIATED WITH THE DISEASE EPIDERMOLYSIS-BULLOSA SIMPLEX IN 7 SEEMINGLY UNRELATED PATIENTS
Authors: SORENSEN CB LADEKJAERMIKKELSEN AS ANDRESEN BS EIBERG H KRUSE TA JENSEN PKA BOLUND L GREGERSEN N
Citation: Cb. Sorensen et al., MOLECULAR CHARACTERIZATION OF 4 NEW MUTATIONS IN THE GENES FOR KERATIN-5 AND KERATIN-14 ASSOCIATED WITH THE DISEASE EPIDERMOLYSIS-BULLOSA SIMPLEX IN 7 SEEMINGLY UNRELATED PATIENTS, Journal of investigative dermatology, 110(4), 1998, pp. 514-514
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
THE MOLECULAR-BASIS OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY IN COMPOUND HETEROZYGOUS PATIENTS - IS THERE CORRELATION BETWEEN GENOTYPE AND PHENOTYPE
Authors: ANDRESEN BS BROSS P UDVARI S KIRK J GRAY G KMOCH S CHAMOLES N KNUDSEN I WINTER V WILCKEN B YOKOTA I HART K PACKMAN S HARPEY JP SAUDUBRAY JM HALE DE BOLUND L KOLVRAA S GREGERSEN N
Citation: Bs. Andresen et al., THE MOLECULAR-BASIS OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY IN COMPOUND HETEROZYGOUS PATIENTS - IS THERE CORRELATION BETWEEN GENOTYPE AND PHENOTYPE, Human molecular genetics, 6(5), 1997, pp. 695-707
STRUCTURAL ORGANIZATION OF THE HUMAN SHORT-CHAIN ACYL-COA DEHYDROGENASE GENE
Authors: CORYDON MJ ANDRESEN BS BROSS P KJELDSEN M ANDREASEN PH EIBERG H KOLVRAA S GREGERSEN N
Citation: Mj. Corydon et al., STRUCTURAL ORGANIZATION OF THE HUMAN SHORT-CHAIN ACYL-COA DEHYDROGENASE GENE, Mammalian genome, 8(12), 1997, pp. 922-926
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
SEQUENCE-ANALYSIS OF THE EPSTEIN-BARR-VIRUS (EBV) LATENT MEMBRANE PROTEIN-1 GENE AND PROMOTER REGION - IDENTIFICATION OF 4 VARIANTS AMONG WILD-TYPE EBV ISOLATES
Authors: SANDVEJ K GRATAMA JW MUNCH M ZHOU XG BOLHUIS RLH ANDRESEN BS GREGERSEN N HAMILTONDUTOIT S
Citation: K. Sandvej et al., SEQUENCE-ANALYSIS OF THE EPSTEIN-BARR-VIRUS (EBV) LATENT MEMBRANE PROTEIN-1 GENE AND PROMOTER REGION - IDENTIFICATION OF 4 VARIANTS AMONG WILD-TYPE EBV ISOLATES, Blood, 90(1), 1997, pp. 323-330
MUTATION DETECTION AND CHARACTERIZATION IN THE MCAD GENE OF 62 UNRELATED PATIENTS NOT HOMOZYGOUS FOR THE PREVALENT G985 MUTATION - NO GENOTYPE-PHENOTYPE CORRELATION
Authors: ANDRESEN BS UDVARI S BROSS P KNUDSEN I BOLUND L GREGERSEN N
Citation: Bs. Andresen et al., MUTATION DETECTION AND CHARACTERIZATION IN THE MCAD GENE OF 62 UNRELATED PATIENTS NOT HOMOZYGOUS FOR THE PREVALENT G985 MUTATION - NO GENOTYPE-PHENOTYPE CORRELATION, American journal of human genetics, 61(4), 1997, pp. 1441-1441
MOLECULAR CHARACTERIZATION OF 4 NEW MUTATIONS IN THE GENES FOR KERATIN-5 AND KERATIN-14 ASSOCIATED WITH THE DISEASE EPIDERMOLYSIS-BULLOSA SIMPLEX IN 6 SEEMINGLY UNRELATED PATIENTS
Authors: SORENSEN CB LADEKJAERMIKKELSEN AS ANDRESEN BS EIBERG H KRUSE TA JENSEN PKA BOLUND L GREGERSEN N
Citation: Cb. Sorensen et al., MOLECULAR CHARACTERIZATION OF 4 NEW MUTATIONS IN THE GENES FOR KERATIN-5 AND KERATIN-14 ASSOCIATED WITH THE DISEASE EPIDERMOLYSIS-BULLOSA SIMPLEX IN 6 SEEMINGLY UNRELATED PATIENTS, American journal of human genetics, 61(4), 1997, pp. 2034-2034
CLONING AND CHARACTERIZATION OF HUMAN VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE CDNA, CHROMOSOMAL ASSIGNMENT OF THE GENE AND IDENTIFICATION IN4 PATIENTS OF 9 DIFFERENT MUTATIONS WITHIN THE VLCAD GENE (VOL 5, PG 461, 1996)
Authors: ANDRESEN BS BROSS P VIANEYSABAN C DIVRY P ZABOT MT ROE CR NADA MA BYSKOV A KRUSE TA NEVE S KRISTIANSEN K KNUDSEN I CORYDON MJ GREGERSON N
Citation: Bs. Andresen et al., CLONING AND CHARACTERIZATION OF HUMAN VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE CDNA, CHROMOSOMAL ASSIGNMENT OF THE GENE AND IDENTIFICATION IN4 PATIENTS OF 9 DIFFERENT MUTATIONS WITHIN THE VLCAD GENE (VOL 5, PG 461, 1996), Human molecular genetics, 5(9), 1996, pp. 1390-1390
CLONING AND CHARACTERIZATION OF HUMAN VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE CDNA, CHROMOSOMAL ASSIGNMENT OF THE GENE AND IDENTIFICATION IN4 PATIENTS OF 9 DIFFERENT MUTATIONS WITHIN THE VLCAD GENE
Authors: ANDRESEN BS BROSS P VIANEYSABAN C DIVRY P ZABOT MT ROE CR NADA MA BYSKOV A KRUSE TA NEVE S KRISTIANSEN K KNUDSEN I CORYDON MJ GREGERSEN N
Citation: Bs. Andresen et al., CLONING AND CHARACTERIZATION OF HUMAN VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE CDNA, CHROMOSOMAL ASSIGNMENT OF THE GENE AND IDENTIFICATION IN4 PATIENTS OF 9 DIFFERENT MUTATIONS WITHIN THE VLCAD GENE, Human molecular genetics, 5(4), 1996, pp. 461-472
MOLECULAR-DIAGNOSIS AND CHARACTERIZATION OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
Authors: ANDRESEN BS
Citation: Bs. Andresen, MOLECULAR-DIAGNOSIS AND CHARACTERIZATION OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY, Danish medical bulletin, 43(4), 1996, pp. 367-368
THE MUTATIONAL SPECTRUM IN VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
Authors: ANDRESEN BS VIANEYSABAN C BROSS P DIVRY P ROE CR NADA MA KNUDSEN I GREGERSEN N
Citation: Bs. Andresen et al., THE MUTATIONAL SPECTRUM IN VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY, Journal of inherited metabolic disease, 19(2), 1996, pp. 169-172
ETHYLMALONIC ACIDURIA IS ASSOCIATED WITH AN AMINO-ACID VARIANT OF SHORT-CHAIN ACYL-COENZYME-A DEHYDROGENASE
Authors: CORYDON MJ GREGERSEN N LEHNERT W RIBES A RINALDO P KMOCH S CHRISTENSEN E KRISTENSEN TJ ANDRESEN BS BROSS P WINTER V MARTINEZ G NEVE S JENSEN TG BOLUND L KOLVRAA S
Citation: Mj. Corydon et al., ETHYLMALONIC ACIDURIA IS ASSOCIATED WITH AN AMINO-ACID VARIANT OF SHORT-CHAIN ACYL-COENZYME-A DEHYDROGENASE, Pediatric research, 39(6), 1996, pp. 1059-1066
COMPARISON BETWEEN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE MUTANT PROTEINS OVEREXPRESSED IN BACTERIAL AND MAMMALIAN-CELLS
Authors: JENSEN TG BROSS P ANDRESEN BS LUND TB KRISTENSEN TJ JENSEN UB WINTHER V KOLVRAA S GREGERSEN N BOLUND L
Citation: Tg. Jensen et al., COMPARISON BETWEEN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE MUTANT PROTEINS OVEREXPRESSED IN BACTERIAL AND MAMMALIAN-CELLS, Human mutation, 6(3), 1995, pp. 226-231
PRENATAL-DIAGNOSIS OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY IN A FAMILY WITH A PREVIOUS FATAL CASE OF SUDDEN UNEXPECTED DEATH IN CHILDHOOD
Authors: GREGERSEN N WINTER V JENSEN PKA HOLMSKOV A KOLVRAA S ANDRESEN BS CHRISTENSEN E BROSS P LUNDEMOSE JB GREGERSEN M
Citation: N. Gregersen et al., PRENATAL-DIAGNOSIS OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY IN A FAMILY WITH A PREVIOUS FATAL CASE OF SUDDEN UNEXPECTED DEATH IN CHILDHOOD, Prenatal diagnosis, 15(1), 1995, pp. 82-86
MOLECULAR DIAGNOSIS AND CHARACTERIZATION OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
Authors: ANDRESEN BS BROSS P JENSEN TG KNUDSEN I WINTER V KOLVRAA S BOLUND L GREGERSEN N
Citation: Bs. Andresen et al., MOLECULAR DIAGNOSIS AND CHARACTERIZATION OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY, Scandinavian journal of clinical & laboratory investigation, 55, 1995, pp. 9-25
EFFECTS OF 2 MUTATIONS DETECTED IN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD)-DEFICIENT PATIENTS ON FOLDING, OLIGOMER ASSEMBLY, AND STABILITY OF MCAD ENZYME
Authors: BROSS P JESPERSEN C JENSEN TG ANDRESEN BS KRISTENSEN MJ WINTER V NANDY A KRAUTLE F GHISLA S BOLUND L KIM JJP GREGERSEN N
Citation: P. Bross et al., EFFECTS OF 2 MUTATIONS DETECTED IN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD)-DEFICIENT PATIENTS ON FOLDING, OLIGOMER ASSEMBLY, AND STABILITY OF MCAD ENZYME, The Journal of biological chemistry, 270(17), 1995, pp. 10284-10290
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
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
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
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
Risultati: 1-25 | 26-32