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Results: 1-25 | 26-50 | 51-63 |
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BROAD-RANGE DGGE FOR SINGLE-STEP MUTATION SCANNING OF ENTIRE GENES - APPLICATION TO HUMAN PHENYLALANINE-HYDROXYLASE GENE
Authors: GULDBERG P GUTTLER F
Citation: P. Guldberg et F. Guttler, BROAD-RANGE DGGE FOR SINGLE-STEP MUTATION SCANNING OF ENTIRE GENES - APPLICATION TO HUMAN PHENYLALANINE-HYDROXYLASE GENE, Nucleic acids research, 22(5), 1994, pp. 880-881
MUTATION ANALYSIS IN FAMILIES WITH DISCORDANT PHENOTYPES OF PHENYLALANINE-HYDROXYLASE DEFICIENCY - INHERITANCE AND EXPRESSION OF THE HYPERPHENYLALANINAEMIAS
Authors: GULDBERG P LEVY HL KOCH R BERLIN CM FRANCOIS B HENRIKSEN KF GUTTLER F
Citation: P. Guldberg et al., MUTATION ANALYSIS IN FAMILIES WITH DISCORDANT PHENOTYPES OF PHENYLALANINE-HYDROXYLASE DEFICIENCY - INHERITANCE AND EXPRESSION OF THE HYPERPHENYLALANINAEMIAS, Journal of inherited metabolic disease, 17(6), 1994, pp. 645-651
BRAIN MAGNETIC-RESONANCE-IMAGING IN CHILDREN WITH OPTIMALLY CONTROLLED HYPERPHENYLALANINEMIA
Authors: TOFT PB LOU HC KRAGELOHMANN I ANDRESEN J GUTTLER F GULDBERG P HENRIKSEN O
Citation: Pb. Toft et al., BRAIN MAGNETIC-RESONANCE-IMAGING IN CHILDREN WITH OPTIMALLY CONTROLLED HYPERPHENYLALANINEMIA, Journal of inherited metabolic disease, 17(5), 1994, pp. 575-583
MUTATION SCREENING VERSUS GENE SCANNING FOR GENOTYPING PHENYLKETONURIA PATIENTS
Authors: GULDBERG P GUTTLER F
Citation: P. Guldberg et F. Guttler, MUTATION SCREENING VERSUS GENE SCANNING FOR GENOTYPING PHENYLKETONURIA PATIENTS, Journal of inherited metabolic disease, 17(3), 1994, pp. 359-361
GENOTYPE-PHENOTYPE CORRELATION IN 11 ROMANIAN PKU FAMILIES
Authors: POPESCU A ANDRIAN T GUTTLER F GULDBERG P
Citation: A. Popescu et al., GENOTYPE-PHENOTYPE CORRELATION IN 11 ROMANIAN PKU FAMILIES, Journal of inherited metabolic disease, 17(3), 1994, pp. 374-375
MATERNAL MILD HYPERPHENYLALANINEMIA - RESULTS OF TREATED AND UNTREATED PREGNANCIES IN 2 SISTERS
Authors: LEVY HL GOSS BS SULLIVAN DK MICHALSMATALON K DOBBS JM GULDBERG P GUTTLER F
Citation: Hl. Levy et al., MATERNAL MILD HYPERPHENYLALANINEMIA - RESULTS OF TREATED AND UNTREATED PREGNANCIES IN 2 SISTERS, The Journal of pediatrics, 125(3), 1994, pp. 467-469
DETECTION OF A SINGLE-BASE DELETION IN CODON-424 OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE IN A DANISH FAMILY WITH FAMILIAL HYPERCHOLESTEROLEMIA
Authors: NISSEN H HANSEN AB GULDBERG P PETERSEN NE LARSEN ML HAGHFELT T KRISTIANSEN K HORDER M
Citation: H. Nissen et al., DETECTION OF A SINGLE-BASE DELETION IN CODON-424 OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE IN A DANISH FAMILY WITH FAMILIAL HYPERCHOLESTEROLEMIA, Atherosclerosis, 111(2), 1994, pp. 209-215
ASSIGNMENT OF AN AUTOSOMAL SEX REVERSAL LOCUS (SRA1) AND CAMPOMELIC DYSPLASIA (CMPD1) TO 17Q24.3-Q25.1
Authors: TOMMERUP N SCHEMPP W MEINECKE P PEDERSEN S BOLUND L BRANDT C GOODPASTURE C GULDBERG P HELD KR REINWEIN H SAUGSTAD OD SCHERER G SKJELDAL O TODER R WESTVIK J VANDERHAGEN CB WOLF U
Citation: N. Tommerup et al., ASSIGNMENT OF AN AUTOSOMAL SEX REVERSAL LOCUS (SRA1) AND CAMPOMELIC DYSPLASIA (CMPD1) TO 17Q24.3-Q25.1, Nature genetics, 4(2), 1993, pp. 170-174
A NOVEL MISSENSE MUTATION IN THE PHENYLALANINE-HYDROXYLASE GENE OF A HOMOZYGOUS PAKISTANI PATIENT WITH NON-PKU HYPERPHENYLALANINEMIA
Authors: GULDBERG P LOU HC HENRIKSEN KF MIKKELSEN I OLSEN B HOLCK B GUTTLER F
Citation: P. Guldberg et al., A NOVEL MISSENSE MUTATION IN THE PHENYLALANINE-HYDROXYLASE GENE OF A HOMOZYGOUS PAKISTANI PATIENT WITH NON-PKU HYPERPHENYLALANINEMIA, Human molecular genetics, 2(7), 1993, pp. 1061-1062
MUTATIONAL SPECTRUM OF PHENYLALANINE-HYDROXYLASE DEFICIENCY IN SICILY- IMPLICATIONS FOR DIAGNOSIS OF HYPERPHENYL-ALANINEMIA IN SOUTHERN EUROPE
Authors: GULDBERG P ROMANO V CERATTO N BOSCO P CIUNA M INDELICATO A MOLLICA F MELI C GIOVANNINI M RIVA E BIASUCCI G HENRIKSEN KF GUTTLER F
Citation: P. Guldberg et al., MUTATIONAL SPECTRUM OF PHENYLALANINE-HYDROXYLASE DEFICIENCY IN SICILY- IMPLICATIONS FOR DIAGNOSIS OF HYPERPHENYL-ALANINEMIA IN SOUTHERN EUROPE, Human molecular genetics, 2(10), 1993, pp. 1703-1707
MOLECULAR ANALYSIS OF PHENYLKETONURIA IN DENMARK - 99-PERCENT OF THE MUTATIONS DETECTED BY DENATURING GRADIENT GEL-ELECTROPHORESIS
Authors: GULDBERG P HENRIKSEN KF GUTTLER F
Citation: P. Guldberg et al., MOLECULAR ANALYSIS OF PHENYLKETONURIA IN DENMARK - 99-PERCENT OF THE MUTATIONS DETECTED BY DENATURING GRADIENT GEL-ELECTROPHORESIS, Genomics, 17(1), 1993, pp. 141-146
A SIMPLE METHOD FOR IDENTIFICATION OF POINT MUTATIONS USING DENATURING GRADIENT GEL-ELECTROPHORESIS
Authors: GULDBERG P GUTTLER F
Citation: P. Guldberg et F. Guttler, A SIMPLE METHOD FOR IDENTIFICATION OF POINT MUTATIONS USING DENATURING GRADIENT GEL-ELECTROPHORESIS, Nucleic acids research, 21(9), 1993, pp. 2261-2262
MOLECULAR-BASIS FOR THE PHENOTYPICAL DIVERSITY OF PHENYLKETONURIA ANDRELATED HYPERPHENYLALANINAEMIAS
Authors: GUTTLER F GULDBERG P HENRIKSEN KF MIKKELSEN I OLSEN B LOU H
Citation: F. Guttler et al., MOLECULAR-BASIS FOR THE PHENOTYPICAL DIVERSITY OF PHENYLKETONURIA ANDRELATED HYPERPHENYLALANINAEMIAS, Journal of inherited metabolic disease, 16(3), 1993, pp. 602-604
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