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Results: 1-25 | 26-50 | 51-63
Results: 26-50/63
CLINICALLY APPLICABLE MUTATION SCREENING IN FAMILIAL HYPERCHOLESTEROLEMIA
Authors: NISSEN H GULDBERG P HANSEN AB PETERSEN NE HORDER M
Citation: H. Nissen et al., CLINICALLY APPLICABLE MUTATION SCREENING IN FAMILIAL HYPERCHOLESTEROLEMIA, Human mutation, 8(2), 1996, pp. 168-177
DGGE ANALYSIS AS SUPPLEMENT TO SSCP ANALYSIS OF THE PHENYLALANINE-HYDROXYLASE GENE - DETECTION OF 8 (ONE DE-NOVO, 7 INHERITED) OF 9 REMAINING NORWEGIAN PKU MUTATIONS
Authors: EIKEN HG KNAPPSKOG PM GULDBERG P APOLD J
Citation: Hg. Eiken et al., DGGE ANALYSIS AS SUPPLEMENT TO SSCP ANALYSIS OF THE PHENYLALANINE-HYDROXYLASE GENE - DETECTION OF 8 (ONE DE-NOVO, 7 INHERITED) OF 9 REMAINING NORWEGIAN PKU MUTATIONS, Human mutation, 8(1), 1996, pp. 19-22
EXPRESSION ANALYSIS OF HUMAN PHENYLALANINE-HYDROXYLASE MUTANTS FOUND IN PHENYLKETONURIA
Authors: GJETTING T HENRIKSON KF GULDBERG P GUTTLER F
Citation: T. Gjetting et al., EXPRESSION ANALYSIS OF HUMAN PHENYLALANINE-HYDROXYLASE MUTANTS FOUND IN PHENYLKETONURIA, The FASEB journal, 10(6), 1996, pp. 40-40
EXPRESSION ANALYSIS OF HUMAN PHENYLALANINE-HYDROXYLASE MUTANTS FOUND IN PHENYLKETONURIA
Authors: GJETTING T HENRIKSEN KF GULDBERG P GUTTLER F
Citation: T. Gjetting et al., EXPRESSION ANALYSIS OF HUMAN PHENYLALANINE-HYDROXYLASE MUTANTS FOUND IN PHENYLKETONURIA, The FASEB journal, 10(6), 1996, pp. 2141-2141
FINGERPRINTING SEQUENCE VARIATION IN RIBOSOMAL DNA OF PARASITES BY DGGE
Authors: GASSER R NANSEN P GULDBERG P
Citation: R. Gasser et al., FINGERPRINTING SEQUENCE VARIATION IN RIBOSOMAL DNA OF PARASITES BY DGGE, Molecular and cellular probes, 10(2), 1996, pp. 99-105
PHENOTYPING OF PHENYLKETONURIC PATIENTS BY ORAL PHENYLALANINE LOADING- REPLY
Authors: GULDBERG P GUTTLER F
Citation: P. Guldberg et F. Guttler, PHENOTYPING OF PHENYLKETONURIC PATIENTS BY ORAL PHENYLALANINE LOADING- REPLY, European journal of pediatrics, 155(6), 1996, pp. 524-525
THE INFLUENCE OF MUTATIONS ON ENZYME-ACTIVITY AND PHENYLALANINE TOLERANCE IN PHENYLALANINE-HYDROXYLASE DEFICIENCY
Authors: GUTTLER F GULDBERG P
Citation: F. Guttler et P. Guldberg, THE INFLUENCE OF MUTATIONS ON ENZYME-ACTIVITY AND PHENYLALANINE TOLERANCE IN PHENYLALANINE-HYDROXYLASE DEFICIENCY, European journal of pediatrics, 155, 1996, pp. 6-10
PAH DEFICIENCY IN ITALY - CORRELATION OF GENOTYPE WITH PHENOTYPE IN THE SICILIAN POPULATION
Authors: ROMANO V GULDBERG P GUTTLER F MELI C MOLLICA F PAVONE L GIOVANNINI M RIVA E BIASUCCI G LUOTTI D PALILLO L CALI F CERATTO N ANELLO G BOSCO P
Citation: V. Romano et al., PAH DEFICIENCY IN ITALY - CORRELATION OF GENOTYPE WITH PHENOTYPE IN THE SICILIAN POPULATION, Journal of inherited metabolic disease, 19(1), 1996, pp. 15-24
PHENOTYPIC PRESENTATION OF THE FH-CINCINNATI TYPE 5 LOW-DENSITY-LIPOPROTEIN RECEPTOR MUTATION
Authors: NISSEN H HANSEN AB GULDBERG P PETERSEN NE LARSEN ML HAGHFELT T KRISTIANSEN K HORDER M
Citation: H. Nissen et al., PHENOTYPIC PRESENTATION OF THE FH-CINCINNATI TYPE 5 LOW-DENSITY-LIPOPROTEIN RECEPTOR MUTATION, Scandinavian journal of clinical & laboratory investigation, 56(1), 1996, pp. 75-85
SPONTANEOUS HUMAN SQUAMOUS-CELL CARCINOMAS ARE KILLED BY A HUMAN CYTOTOXIC T-LYMPHOCYTE CLONE RECOGNIZING A WILD-TYPE P53-DERIVED PEPTIDE
Authors: ROPKE M HALD J GULDBERG P ZEUTHEN J NORGAARD L FUGGER L SVEJGAARD A VANDERBURG S NIJMAN HW MELIEF CJM CLAESSON MH
Citation: M. Ropke et al., SPONTANEOUS HUMAN SQUAMOUS-CELL CARCINOMAS ARE KILLED BY A HUMAN CYTOTOXIC T-LYMPHOCYTE CLONE RECOGNIZING A WILD-TYPE P53-DERIVED PEPTIDE, Proceedings of the National Academy of Sciences of the United Statesof America, 93(25), 1996, pp. 14704-14707
3 PREVALENT MUTATIONS IN A PATIENT WITH PHENYLALANINE-HYDROXYLASE DEFICIENCY - IMPLICATIONS FOR DIAGNOSIS AND GENETIC-COUNSELING
Authors: GULDBERG P LEVY HL HENRIKSEN KF GUTTLER F
Citation: P. Guldberg et al., 3 PREVALENT MUTATIONS IN A PATIENT WITH PHENYLALANINE-HYDROXYLASE DEFICIENCY - IMPLICATIONS FOR DIAGNOSIS AND GENETIC-COUNSELING, Journal of Medical Genetics, 33(2), 1996, pp. 161-164
THE P16-CYCLIN-D CDK4-PRB PATHWAY AS A FUNCTIONAL UNIT FREQUENTLY ALTERED IN MELANOMA PATHOGENESIS
Authors: BARTKOVA J LUKAS J GULDBERG P ALSNER J KIRKIN AF ZEUTHEN J BARTEK J
Citation: J. Bartkova et al., THE P16-CYCLIN-D CDK4-PRB PATHWAY AS A FUNCTIONAL UNIT FREQUENTLY ALTERED IN MELANOMA PATHOGENESIS, Cancer research, 56(23), 1996, pp. 5475-5483
PHENYLALANINE-HYDROXYLASE GENE-MUTATIONS IN THE UNITED-STATES - REPORT FROM THE MATERNAL PKU COLLABORATIVE STUDY
Authors: GULDBERG P LEVY HL HANLEY WB KOCH R MATALON R ROUSE BM TREFZ F DELACRUZ F HENRIKSEN KF GUTTLER F
Citation: P. Guldberg et al., PHENYLALANINE-HYDROXYLASE GENE-MUTATIONS IN THE UNITED-STATES - REPORT FROM THE MATERNAL PKU COLLABORATIVE STUDY, American journal of human genetics, 59(1), 1996, pp. 84-94
IN-VIVO ASSESSMENT OF MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENEBY PHENYLALANINE LOADING - CHARACTERIZATION OF 7 COMMON MUTATIONS
Authors: GULDBERG P MIKKELSEN I HENRIKSEN KF LOU HC GUTTLER F
Citation: P. Guldberg et al., IN-VIVO ASSESSMENT OF MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENEBY PHENYLALANINE LOADING - CHARACTERIZATION OF 7 COMMON MUTATIONS, European journal of pediatrics, 154(7), 1995, pp. 551-556
PHENYLKETONURIC PATIENTS DECADES AFTER DIET
Authors: FISCH RO CHANG PN WEISBERG S GULDBERG P GUTTLER F TSAI MY
Citation: Ro. Fisch et al., PHENYLKETONURIC PATIENTS DECADES AFTER DIET, Journal of inherited metabolic disease, 18(3), 1995, pp. 347-353
MUTATIONS IN CLASSICAL AND DUARTE(2) GALACTOSEMIA
Authors: GREBER S GULDBERG P SCHEIBENREITER S STROBL W
Citation: S. Greber et al., MUTATIONS IN CLASSICAL AND DUARTE(2) GALACTOSEMIA, Pediatric research, 38(3), 1995, pp. 434-434
PHENYLKETONURIA IN A LOW INCIDENCE POPULATION - MOLECULAR CHARACTERIZATION OF MUTATIONS IN FINLAND
Authors: GULDBERG P HENRIKSEN KF SIPILA I GUTTLER F DELACHAPELLE A
Citation: P. Guldberg et al., PHENYLKETONURIA IN A LOW INCIDENCE POPULATION - MOLECULAR CHARACTERIZATION OF MUTATIONS IN FINLAND, Journal of Medical Genetics, 32(12), 1995, pp. 976-978
GENETIC DIAGNOSIS WITH THE DENATURING GRADIENT GEL-ELECTROPHORESIS TECHNIQUE IMPROVES DIAGNOSTIC PRECISION IN FAMILIAL HYPERCHOLESTEROLEMIA
Authors: NISSEN H HANSEN AB GULDBERG P PETERSEN NE LARSEN ML HAGHFELT T KRISTIANSEN K HORDER M
Citation: H. Nissen et al., GENETIC DIAGNOSIS WITH THE DENATURING GRADIENT GEL-ELECTROPHORESIS TECHNIQUE IMPROVES DIAGNOSTIC PRECISION IN FAMILIAL HYPERCHOLESTEROLEMIA, Circulation, 91(6), 1995, pp. 1641-1646
RECURRENCE OF THE R408W MUTATION IN THE PHENYLALANINE-HYDROXYLASE LOCUS IN EUROPEANS
Authors: EISENSMITH RC GOLTSOV AA ONEILL C TYFIELD LA SCHWARTZ EI KUZMIN AI BARANOVSKAYA SS TSUKERMAN GL TREACY E SCRIVER CR GUTTLER F GULDBERG P EIKEN HG APOLD J SVENSSON E NAUGHTEN E CAHALANE SF CROKE DT COCKBURN F WOO SLC
Citation: Rc. Eisensmith et al., RECURRENCE OF THE R408W MUTATION IN THE PHENYLALANINE-HYDROXYLASE LOCUS IN EUROPEANS, American journal of human genetics, 56(1), 1995, pp. 278-286
MOLECULAR HETEROGENEITY OF NONPHENYLKETONURIA HYPERPHENYLALANINEMIA IN 25 DANISH PATIENTS
Authors: GULDBERG P HENRIKSEN KF THONY B BLAU N GUTTLER F
Citation: P. Guldberg et al., MOLECULAR HETEROGENEITY OF NONPHENYLKETONURIA HYPERPHENYLALANINEMIA IN 25 DANISH PATIENTS, Genomics, 21(2), 1994, pp. 453-455
MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENE - METHODS FOR THEIR CHARACTERIZATION
Authors: GULDBERG P GUTTLER F
Citation: P. Guldberg et F. Guttler, MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENE - METHODS FOR THEIR CHARACTERIZATION, Acta paediatrica, 83, 1994, pp. 27-33
ASSOCIATION BETWEEN HAPLOTYPES, HIND III-VNTR ALLELES AND MUTATIONS AT THE PAH LOCUS IN SICILY
Authors: ROMANO V CALI F GULDBERG P GUTTLER F INDELICATO A BOSCO P CERATTO N
Citation: V. Romano et al., ASSOCIATION BETWEEN HAPLOTYPES, HIND III-VNTR ALLELES AND MUTATIONS AT THE PAH LOCUS IN SICILY, Acta paediatrica, 83, 1994, pp. 39-40
MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENE - GENETIC-DETERMINANTS FOR THE PHENOTYPIC VARIABILITY OF HYPERPHENYLALANINEMIA
Authors: GUTTLER F GULDBERG P
Citation: F. Guttler et P. Guldberg, MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENE - GENETIC-DETERMINANTS FOR THE PHENOTYPIC VARIABILITY OF HYPERPHENYLALANINEMIA, Acta paediatrica, 83, 1994, pp. 49-56
UNCHANGED MRT OF MYELIN IN ADOLESCENTS WITH PKU SUPPLIED WITH NON-PHEESSENTIAL AMINO-ACIDS AFTER DIETARY RELAXATION
Authors: LOU HC TOFT PB ANDRESEN J MIKKELSEN I OLSEN B GULDBERG P GUTTLER F
Citation: Hc. Lou et al., UNCHANGED MRT OF MYELIN IN ADOLESCENTS WITH PKU SUPPLIED WITH NON-PHEESSENTIAL AMINO-ACIDS AFTER DIETARY RELAXATION, Acta paediatrica, 83(12), 1994, pp. 1312-1314
CONSTANT DENATURANT GEL-ELECTROPHORESIS WITHOUT FORMAMIDE
Authors: GULDBERG P HENRIKSEN KF GUTTLER F
Citation: P. Guldberg et al., CONSTANT DENATURANT GEL-ELECTROPHORESIS WITHOUT FORMAMIDE, BioTechniques, 16(5), 1994, pp. 786
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