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Results: 1-25 | 26-50 | 51-74
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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
A HUMAN HOMOLOG OF ESCHERICHIA-COLI CLPP CASEINOLYTIC PROTEASE - RECOMBINANT EXPRESSION, INTRACELLULAR PROCESSING AND SUBCELLULAR-LOCALIZATION
Authors: CORYDON TJ BROSS P HOLST HU NEVE S KRISTIANSEN K GREGERSEN N BOLUND L
Citation: Tj. Corydon et al., A HUMAN HOMOLOG OF ESCHERICHIA-COLI CLPP CASEINOLYTIC PROTEASE - RECOMBINANT EXPRESSION, INTRACELLULAR PROCESSING AND SUBCELLULAR-LOCALIZATION, Biochemical journal, 331, 1998, pp. 309-316
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
IDENTIFICATION OF VITAMIN-D RESPONDING GENES IN KERATINOCYTE CULTURESBY DIFFERENTIAL DISPLAY
Authors: HENRIKSEN LO MADSEN MW HANSEN JJ ANDREASEN PH GREGERSEN N BOLUND L BINDERUP L KRAGBALLE K
Citation: Lo. Henriksen et al., IDENTIFICATION OF VITAMIN-D RESPONDING GENES IN KERATINOCYTE CULTURESBY DIFFERENTIAL DISPLAY, Journal of investigative dermatology, 110(4), 1998, pp. 612-612
RAPID DEGRADATION OF SHORT-CHAIN ACYL-COA DEHYDROGENASE VARIANTS WITHTEMPERATURE-SENSITIVE FOLDING DEFECTS OCCURS AFTER IMPORT INTO MITOCHONDRIA
Authors: CORYDON TJ BROSS P JENSEN TG CORYDON MJ LUND TB JENSEN UB KIM JJP GREGERSEN N BOLUND L
Citation: Tj. Corydon et al., RAPID DEGRADATION OF SHORT-CHAIN ACYL-COA DEHYDROGENASE VARIANTS WITHTEMPERATURE-SENSITIVE FOLDING DEFECTS OCCURS AFTER IMPORT INTO MITOCHONDRIA, The Journal of biological chemistry, 273(21), 1998, pp. 13065-13071
A NOVEL MISSENSE MUTATION (402C-]T) IN EXON-1 IN THE EDA GENE IN A FAMILY WITH X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA
Authors: HERTZ JM HANSEN KN JUNCKER I KJELDSEN M GREGERSEN N
Citation: Jm. Hertz et al., A NOVEL MISSENSE MUTATION (402C-]T) IN EXON-1 IN THE EDA GENE IN A FAMILY WITH X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA, Clinical genetics, 53(3), 1998, pp. 205-209
QUANTITATIVE-ANALYSIS OF THE HUMAN EPIDERMAL GROWTH-FACTOR RECEPTOR MESSENGER-RNA USING REVERSE TRANSCRIPTION-PCR - A METHODOLOGICAL STUDY OF IMPRECISION
Authors: THOGERSEN VB BROSS P GREGERSEN N NEXO E
Citation: Vb. Thogersen et al., QUANTITATIVE-ANALYSIS OF THE HUMAN EPIDERMAL GROWTH-FACTOR RECEPTOR MESSENGER-RNA USING REVERSE TRANSCRIPTION-PCR - A METHODOLOGICAL STUDY OF IMPRECISION, Clinical chemistry, 44(6), 1998, pp. 1344-1346
FATTY-ACID OXIDATION DISORDERS AS PRIMARY CAUSE OF SUDDEN AND UNEXPECTED DEATH IN INFANTS AND YOUNG-CHILDREN - AN INVESTIGATION PERFORMED ON CULTURED FIBROBLASTS FROM 79 CHILDREN WHO DIED AGED BETWEEN 0-4 YEARS
Authors: LUNDEMOSE JB KOLVRAA S GREGERSEN N CHRISTENSEN E GREGERSEN M
Citation: Jb. Lundemose et al., FATTY-ACID OXIDATION DISORDERS AS PRIMARY CAUSE OF SUDDEN AND UNEXPECTED DEATH IN INFANTS AND YOUNG-CHILDREN - AN INVESTIGATION PERFORMED ON CULTURED FIBROBLASTS FROM 79 CHILDREN WHO DIED AGED BETWEEN 0-4 YEARS, Journal of clinical pathology-Molecular pathology, 50(4), 1997, pp. 212-217
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
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 SURVEY OF THE NEWBORN POPULATIONS IN BELGIUM, GERMANY, POLAND, CZECH-REPUBLIC, HUNGARY, BULGARIA, SPAIN, TURKEY, AND JAPAN FOR THE G985 VARIANT ALLELE WITH HAPLOTYPE ANALYSIS AT THE MEDIUM-CHAIN ACYL-COA DEHYDROGENASE GENE LOCUS - CLINICAL AND EVOLUTIONARY CONSIDERATION
Authors: TANAKA K GREGERSEN N RIBES A KIM J KOLVRAA S WINTER V EIBERG H MARTINEZ G DEUFEL T LEIFERT B SANTER R FRANCOIS B PRONICKA E LASZLO A KMOCH S KREMENSKY I KALAYDJICVA L OZALP I ITO M
Citation: K. Tanaka et al., A SURVEY OF THE NEWBORN POPULATIONS IN BELGIUM, GERMANY, POLAND, CZECH-REPUBLIC, HUNGARY, BULGARIA, SPAIN, TURKEY, AND JAPAN FOR THE G985 VARIANT ALLELE WITH HAPLOTYPE ANALYSIS AT THE MEDIUM-CHAIN ACYL-COA DEHYDROGENASE GENE LOCUS - CLINICAL AND EVOLUTIONARY CONSIDERATION, Pediatric research, 41(2), 1997, pp. 201-209
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
BIOCHEMICAL-CHARACTERIZATION OF PURIFIED, HUMAN RECOMBINANT LYS304-]GLU MEDIUM-CHAIN ACYL-COA DEHYDROGENASE CONTAINING THE COMMON DISEASE-CAUSING MUTATION AND COMPARISON WITH THE NORMAL ENZYME
Authors: KIEWEG V KRAUTLE FG NANDY A ENGST S VOCK P ABDELGHANY AG BROSS P GREGERSEN N RASCHED I STRAUSS A GHISLA S
Citation: V. Kieweg et al., BIOCHEMICAL-CHARACTERIZATION OF PURIFIED, HUMAN RECOMBINANT LYS304-]GLU MEDIUM-CHAIN ACYL-COA DEHYDROGENASE CONTAINING THE COMMON DISEASE-CAUSING MUTATION AND COMPARISON WITH THE NORMAL ENZYME, European journal of biochemistry, 246(2), 1997, pp. 548-556
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
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
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
Risultati: 1-25 | 26-50 | 51-74