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Results: 1-25 | 26-35
Results: 1-25/35
DIHYDROPTERIDINE REDUCTASE DEFICIENCY - PHYSICAL STRUCTURE OF THE QDPR GENE, IDENTIFICATION OF 2 NEW MUTATIONS AND GENOTYPE-PHENOTYPE CORRELATIONS
Authors: DIANZANI I DESANCTIS L SMOOKER PM GOUGH TJ ALLIAUDI C BRUSCO A SPADA M BLAU N DOBOS M ZHANG HP YANG N PONZONE A ARMAREGO WLF COTTON RGH
Citation: I. Dianzani et al., DIHYDROPTERIDINE REDUCTASE DEFICIENCY - PHYSICAL STRUCTURE OF THE QDPR GENE, IDENTIFICATION OF 2 NEW MUTATIONS AND GENOTYPE-PHENOTYPE CORRELATIONS, Human mutation, 12(4), 1998, pp. 267-273
T-CELLS FROM PATIENTS WITH AUTOIMMUNITY LYMPHOPROLIFERATION DISPLAY HETEROGENEOUS DEFECTS OF THE FAS APOPTOSIS PATHWAY/
Authors: DIANZANI U BONISSONI S BRAGARDO M BOTTAREL F DEFRANCO S DIFRANCO D GAMBARUTO C DIANZANI I RAMENGHI U
Citation: U. Dianzani et al., T-CELLS FROM PATIENTS WITH AUTOIMMUNITY LYMPHOPROLIFERATION DISPLAY HETEROGENEOUS DEFECTS OF THE FAS APOPTOSIS PATHWAY/, The FASEB journal, 12(5), 1998, pp. 6311-6311
PHENYLALANINE AND TYROSINE METABOLISM IN PHENYLKETONURIA HETEROZYGOTES - INFLUENCE OF DIFFERENT PHENYLALANINE-HYDROXYLASE MUTATIONS
Authors: SPADA M DIANZANI I BONETTI G BIONDI A LEONE L GIANNATTASIO S PONZONE A
Citation: M. Spada et al., PHENYLALANINE AND TYROSINE METABOLISM IN PHENYLKETONURIA HETEROZYGOTES - INFLUENCE OF DIFFERENT PHENYLALANINE-HYDROXYLASE MUTATIONS, Journal of inherited metabolic disease, 21(3), 1998, pp. 236-239
IDENTIFICATION OF MICRODELETIONS SPANNING THE DIAMOND-BLACKFAN ANEMIALOCUS ON 19Q13 AND EVIDENCE FOR GENETIC-HETEROGENEITY
Authors: GUSTAVSSON P GARELLI E DRAPTCHINSKAIA N BALL S WILLIG TN TENTLER D DIANZANI I PUNNETT HH SHAFER FE CARIO H RAMENGHI U GLOMSTEIN A PFEIFFER RA GORINGE A OLIVIERI NF SMIBERT E TCHERNIA G ELINDER G DAHL N
Citation: P. Gustavsson et al., IDENTIFICATION OF MICRODELETIONS SPANNING THE DIAMOND-BLACKFAN ANEMIALOCUS ON 19Q13 AND EVIDENCE FOR GENETIC-HETEROGENEITY, American journal of human genetics, 63(5), 1998, pp. 1388-1395
A EUROPEAN MULTICENTER STUDY OF PHENYLALANINE-HYDROXYLASE DEFICIENCY - CLASSIFICATION OF 105 MUTATIONS AND A GENERAL SYSTEM FOR GENOTYPE-BASED PREDICTION OF METABOLIC PHENOTYPE
Authors: GULDBERG P REY F ZSCHOCKE J ROMANO V FRANCOIS B MICHIELS L ULLRICH K HOFFMANN GF BURGARD P SCHMIDT H MELI C RIVA E DIANZANI I PONZONE A REY J GUTTLER F
Citation: P. Guldberg et al., A EUROPEAN MULTICENTER STUDY OF PHENYLALANINE-HYDROXYLASE DEFICIENCY - CLASSIFICATION OF 105 MUTATIONS AND A GENERAL SYSTEM FOR GENOTYPE-BASED PREDICTION OF METABOLIC PHENOTYPE, American journal of human genetics, 63(1), 1998, pp. 71-79
DIAMOND-BLACKFAN ANEMIA - GENETIC HOMOGENEITY FOR A GENE ON CHROMOSOME 19Q13 RESTRICTED TO 1.8 MB
Authors: GUSTAVSSON P WILLIG TN VANHAERINGEN A TCHERNIA G DIANZANI I DONNER M ELINDER G HENTER JI NILSSON PG GORDON L SKEPPNER G VANTVEERKORTHOF L KREUGER A DAHL N
Citation: P. Gustavsson et al., DIAMOND-BLACKFAN ANEMIA - GENETIC HOMOGENEITY FOR A GENE ON CHROMOSOME 19Q13 RESTRICTED TO 1.8 MB, Nature genetics, 16(4), 1997, pp. 368-371
THE STR252-IVS10NT546-VNTR7 PHENYLALANINE-HYDROXYLASE MINIHAPLOTYPE IN 5 MEDITERRANEAN SAMPLES
Authors: CALI F DIANZANI I DESVIAT LR PEREZ B UGARTE M OZGUC M SEYRANTEPE V SHILOH Y GIANNATTASIO S CARDUCCI C BOSCO P DELEO G PIAZZA A ROMANO V
Citation: F. Cali et al., THE STR252-IVS10NT546-VNTR7 PHENYLALANINE-HYDROXYLASE MINIHAPLOTYPE IN 5 MEDITERRANEAN SAMPLES, Human genetics, 100(3-4), 1997, pp. 350-355
DIAMOND-BLACKFAN ANEMIA - EXPANSION OF ERYTHROID PROGENITORS IN-VITROBY IL-9, BUT EXCLUSION OF A SIGNIFICANT PATHOGENETIC ROLE FOR THE IL-9 GENE AND THE HEMATOPOIETIC GENE-CLUSTER ON CHROMOSOME-5Q
Authors: DIANZANI I GARELLI E CRESCENZIO N TIMEUS F MORI PG VAROTTO S NOBILI B BRANDALISE S OLIVIERI NF GABUTTI V RAMENGHI U
Citation: I. Dianzani et al., DIAMOND-BLACKFAN ANEMIA - EXPANSION OF ERYTHROID PROGENITORS IN-VITROBY IL-9, BUT EXCLUSION OF A SIGNIFICANT PATHOGENETIC ROLE FOR THE IL-9 GENE AND THE HEMATOPOIETIC GENE-CLUSTER ON CHROMOSOME-5Q, Experimental hematology, 25(12), 1997, pp. 1270-1277
PHENYLKETONURIA IN ITALY - DISTINCT DISTRIBUTION PATTERN OF 3 MUTATIONS OF THE PHENYLALANINE-HYDROXYLASE GENE
Authors: GUZZETTA V BONAPACE G DIANZANI I PARENTI G LECORA M GIANNATTASIO S CONCOLINO D STRISCIUGLIO P SEBASTIO G ANDRIA G
Citation: V. Guzzetta et al., PHENYLKETONURIA IN ITALY - DISTINCT DISTRIBUTION PATTERN OF 3 MUTATIONS OF THE PHENYLALANINE-HYDROXYLASE GENE, Journal of inherited metabolic disease, 20(5), 1997, pp. 619-624
FUNCTIONAL ABNORMALITIES OF CELL-SURVIVAL IN PEDIATRIC-PATIENTS AFFECTED BY INTENSE POLYREACTIVE AUTOIMMUNITY
Authors: PIGNATA C ALESSIO M FRANZESE A GAETANIELLO L DIANZANI I RAMENGHI U DIANZANI U
Citation: C. Pignata et al., FUNCTIONAL ABNORMALITIES OF CELL-SURVIVAL IN PEDIATRIC-PATIENTS AFFECTED BY INTENSE POLYREACTIVE AUTOIMMUNITY, Blood, 90(10), 1997, pp. 2948-2948
GENETICS OF DIAMOND-BLACKFAN ANEMIA - ANALYSIS OF THE CHROMOSOME 19Q13.2 REGION IN FAMILIAL AND SPORADIC CASES
Authors: GUSTAVSSON P GARELLI E DRAPTCHINSKAIA N BALL S WILLIG TN RAMENGHI U DIANZANI I GORINGE A OLIVIERI NF SMIBERT E TCHERNIA G ELINDER G SKEPPNER G DAHL N
Citation: P. Gustavsson et al., GENETICS OF DIAMOND-BLACKFAN ANEMIA - ANALYSIS OF THE CHROMOSOME 19Q13.2 REGION IN FAMILIAL AND SPORADIC CASES, Blood, 90(10), 1997, pp. 1954-1954
CONGENITAL-MALFORMATIONS IN DIAMOND-BLACKFAN ANEMIA - COSEGREGATION WITH THE DBA LOCUS ON 19Q13.2
Authors: RAMENGHI U GARELLI E VALTOLINA S VAROTTO S MAIR M FRANCESCHINI P GUSTAVSSON P DIANZANI I DAHL N
Citation: U. Ramenghi et al., CONGENITAL-MALFORMATIONS IN DIAMOND-BLACKFAN ANEMIA - COSEGREGATION WITH THE DBA LOCUS ON 19Q13.2, Blood, 90(10), 1997, pp. 1955-1955
DEFICIENCY OF THE FAS APOPTOSIS PATHWAY WITHOUT FAS GENE-MUTATIONS INPEDIATRIC-PATIENTS WITH AUTOIMMUNITY LYMPHOPROLIFERATION/
Authors: DIANZANI U BRAGARDO M DIFRANCO D ALLIAUDI C SCAGNI P BUONFIGLIO D REDOGLIA V BONISSONI S CORRERA A DIANZANI I RAMENGHI U
Citation: U. Dianzani et al., DEFICIENCY OF THE FAS APOPTOSIS PATHWAY WITHOUT FAS GENE-MUTATIONS INPEDIATRIC-PATIENTS WITH AUTOIMMUNITY LYMPHOPROLIFERATION/, Blood, 89(8), 1997, pp. 2871-2879
BIODEF AND BIOMDB INTERNATIONAL DATABASES OF TETRAHYDROBIOPTERIN DEFICIENCIES
Authors: BLAU N DHONDT JL DIANZANI I THONY B
Citation: N. Blau et al., BIODEF AND BIOMDB INTERNATIONAL DATABASES OF TETRAHYDROBIOPTERIN DEFICIENCIES, American journal of human genetics, 61(4), 1997, pp. 1444-1444
DIHYDROPTERIDINE REDUCTASE (DHPR) DEFICIENCY - BIOCHEMICAL-CHARACTERIZATION OF A NEW MILD MUTATION AND DEFINITION OF THE GENOMIC STRUCTURE OF THE DHPR GENE
Authors: DESANCTIS L ARMAREGO W SMOOKER P GOUGH T BRUSCO A ZHANG HP YANG N PONZONE A COTTON RGH DIANZANI I
Citation: L. Desanctis et al., DIHYDROPTERIDINE REDUCTASE (DHPR) DEFICIENCY - BIOCHEMICAL-CHARACTERIZATION OF A NEW MILD MUTATION AND DEFINITION OF THE GENOMIC STRUCTURE OF THE DHPR GENE, American journal of human genetics, 61(4), 1997, pp. 1452-1452
AUTOIMMUNE LYMPHOPROLIFERATIVE DISEASE (ALD) - IS IT DUE TO A DOMINANT-NEGATIVE EFFECT/
Authors: DIANZANI I BRAGARDO M DIFRANCO D BONISSONI S GAMBARUTO C RAMENGHI U DIANZANI U
Citation: I. Dianzani et al., AUTOIMMUNE LYMPHOPROLIFERATIVE DISEASE (ALD) - IS IT DUE TO A DOMINANT-NEGATIVE EFFECT/, American journal of human genetics, 61(4), 1997, pp. 2308-2308
DIAMOND-BLACKFAN ANEMIA - A CONGENITAL DEFECT IN ERYTHROPOIESIS
Authors: DIANZANI I GARELLI E RAMENGHI U
Citation: I. Dianzani et al., DIAMOND-BLACKFAN ANEMIA - A CONGENITAL DEFECT IN ERYTHROPOIESIS, Haematologica, 81(6), 1996, pp. 560-572
PHENOTYPING OF PHENYLKETONURIC PATIENTS BY ORAL PHENYLALANINE LOADING
Authors: PONZONE A SPADA M DESANCTIS L DIANZANI I
Citation: A. Ponzone et al., PHENOTYPING OF PHENYLKETONURIC PATIENTS BY ORAL PHENYLALANINE LOADING, European journal of pediatrics, 155(6), 1996, pp. 523-524
INCREASED ERYTHROID PROGENITOR GROWTH BY IL-9 IN DIAMOND-BLACKFAN ANEMIA
Authors: RAMENGHI U CRESCENZIO N TIMEUS F GARELLI E SCAGNI P MORI PG OLIVIERI NF GABUTTI V DIANZANI I
Citation: U. Ramenghi et al., INCREASED ERYTHROID PROGENITOR GROWTH BY IL-9 IN DIAMOND-BLACKFAN ANEMIA, Blood, 88(10), 1996, pp. 562-562
MUTATIONS IN THE ERYTHROPOIETIN RECEPTOR GENE ARE NOT A COMMON-CAUSE OF DIAMOND-BLACKFAN ANEMIA
Authors: DIANZANI I GARELLI E DOMPE C CRESCENZIO N LOCATELLI F SCHILIRO G CASTAMAN G BAGNARA GP OLIVIERI NF GABUTTI V RAMENGHI U
Citation: I. Dianzani et al., MUTATIONS IN THE ERYTHROPOIETIN RECEPTOR GENE ARE NOT A COMMON-CAUSE OF DIAMOND-BLACKFAN ANEMIA, Blood, 87(6), 1996, pp. 2568-2572
NOVEL MISSENSE MUTATION IN THE PHENYLALANINE-HYDROXYLASE GENE LEADINGTO COMPLETE LOSS OF ENZYMATIC-ACTIVITY
Authors: DIANZANI I KNAPPSKOG PM DESANCTIS L GIANNATTASIO S RIVA E PONZONE A APOLD J CAMASCHELLA C
Citation: I. Dianzani et al., NOVEL MISSENSE MUTATION IN THE PHENYLALANINE-HYDROXYLASE GENE LEADINGTO COMPLETE LOSS OF ENZYMATIC-ACTIVITY, Human mutation, 6(3), 1995, pp. 247-249
CHARACTERIZATION OF PHENYLKETONURIA ALLELES IN THE ITALIAN POPULATION
Authors: DIANZANI I GIANNATTASIO S DESANCTIS L ALLIAUDI C LATTANZIO P VICI CD BURLINA A BURRONI M SEBASTIO G CARNEVALE F GUZZETTA V MARRA E CAMASCHELLA C PONZONE A
Citation: I. Dianzani et al., CHARACTERIZATION OF PHENYLKETONURIA ALLELES IN THE ITALIAN POPULATION, European journal of human genetics, 3(5), 1995, pp. 294-302
MOLECULAR SCREENING OF GENETIC-DEFECTS WITH RNA-SSCP ANALYSIS - THE PKU AND CYSTINURIA MODEL
Authors: GIANNATTASIO S BISCEGLIA L LATTANZIO P GRIFA A DIANZANI I GASPARINI P MARRA E
Citation: S. Giannattasio et al., MOLECULAR SCREENING OF GENETIC-DEFECTS WITH RNA-SSCP ANALYSIS - THE PKU AND CYSTINURIA MODEL, Molecular and cellular probes, 9(3), 1995, pp. 201-205
MUTATIONS IN THE ERYTHROPOIETIN RECEPTOR GENE ARE NOT A MAJOR CAUSE OF DIAMOND-BLACKFAN ANEMIA
Authors: RAMENGHI U GARELLI E DOMPE C CRESCENZIO N LOCATELLI F GANGAROSSA S BAGNARA GP OLIVIERI N GABUTTI V DIANZANI I
Citation: U. Ramenghi et al., MUTATIONS IN THE ERYTHROPOIETIN RECEPTOR GENE ARE NOT A MAJOR CAUSE OF DIAMOND-BLACKFAN ANEMIA, Experimental hematology, 23(8), 1995, pp. 871-871
MUTATIONS IN THE ERYTHROPOIETIN RECEPTOR GENE ARE NOT A COMMON-CAUSE OF DIAMOND-BLACKFAN ANEMIA
Authors: DIANZANI I GARELLI E DOMPE C CRESCENZIO N OLIVIERI N GABUTTI V RAMENGHI U
Citation: I. Dianzani et al., MUTATIONS IN THE ERYTHROPOIETIN RECEPTOR GENE ARE NOT A COMMON-CAUSE OF DIAMOND-BLACKFAN ANEMIA, American journal of human genetics, 57(4), 1995, pp. 1213-1213
Risultati: 1-25 | 26-35