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Results: 1-16 |
Results: 16
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
GROWTH-HORMONE TREATMENT IN IRRADIATED CHILDREN WITH BRAIN-TUMORS
Authors: CORRIAS A PICCO P EINAUDI S DESANCTIS L BESENZON L GARRE ML DELPREVER AB DESANCTIS C
Citation: A. Corrias et al., GROWTH-HORMONE TREATMENT IN IRRADIATED CHILDREN WITH BRAIN-TUMORS, Journal of pediatric endocrinology & metabolism, 10(1), 1997, pp. 41-49
RELIABILITY OF PREOPERATIVE EVALUATION OF PROGNOSTIC FACTORS IN ENDOMETRIAL CARCINOMA
Authors: VALSECCHI L MANGILI G FRIGERIO L SPAGNOLO DL DESANCTIS L FERRARI A
Citation: L. Valsecchi et al., RELIABILITY OF PREOPERATIVE EVALUATION OF PROGNOSTIC FACTORS IN ENDOMETRIAL CARCINOMA, International journal of gynaecology and obstetrics, 59(1), 1997, pp. 35-39
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
MOLECULAR ANALYSIS OF THE CYSTINURIA DISEASE GENE - IDENTIFICATION OF4 NEW MUTATIONS, ONE LARGE DELETION, AND ONE POLYMORPHISM
Authors: BISCEGLIA L CALONGE MJ DELLOSTROLOGO L RIZZONI G DESANCTIS L GALLUCCI M BECCIA E TESTAR X ZORZANO A ESTIVILL X ZELANTE L PALACIN M GASPARINI P NUNES V
Citation: L. Bisceglia et al., MOLECULAR ANALYSIS OF THE CYSTINURIA DISEASE GENE - IDENTIFICATION OF4 NEW MUTATIONS, ONE LARGE DELETION, AND ONE POLYMORPHISM, Human genetics, 98(4), 1996, pp. 447-451
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
MONITORING TREATMENT IN TETRAHYDROBIOPTERIN DEFICIENCY BY SERUM PROLACTIN
Authors: SPADA M FERRARIS S FERRERO GB SARTORE M LANZA C PERFETTO F DESANCTIS L DOMPE C BLAU N PONZONE A
Citation: M. Spada et al., MONITORING TREATMENT IN TETRAHYDROBIOPTERIN DEFICIENCY BY SERUM PROLACTIN, Journal of inherited metabolic disease, 19(2), 1996, pp. 231-233
PHENOTYPE CHARACTERIZATION AND PREVALENCE OF RBAT M467T MUTATION IN ITALIAN CYSTINURIC PATIENTS
Authors: DESANCTIS L BRUNO M BONETTI G COSSEDDU D BISCEGLIA L PONZONE A DIANZANI J
Citation: L. Desanctis et al., PHENOTYPE CHARACTERIZATION AND PREVALENCE OF RBAT M467T MUTATION IN ITALIAN CYSTINURIC PATIENTS, Journal of inherited metabolic disease, 19(2), 1996, pp. 243-245
EFFECTS OF DIFFERENT MEMBRANES AND DIALYSIS TECHNOLOGIES ON PATIENT TREATMENT TOLERANCE AND NUTRITIONAL PARAMETERS
Authors: LOCATELLI F MASTRANGELO F REDAELLI B RONCO C MARCELLI D LAGRECA G ORLANDINI G CORTI M PONTORIERO G DIFILIPPO S ROSSI R FARMA R COLANTONIO P MARTINELLI D VASILE A ALLEGRA V MENGOZZI G MARTINBIANCO L BONOMINI V STEFONI C COLI L CIANCIOLO G DESANCTIS L DEBLASI V ALFONSO L RIZZELLI S PATRUNO P BRENDOLAN A CREPALDI C CASU MD MUREDDU S MAIORCA R CRISTINELLI L SETTI G CAMERINI C SALVADORI M BANDINI S ROSATI A MANCINI G PANZETTA G IANCHE M DELMASTRO G COGONI G ACCALAI GP SECHI MA ALLOATTI S PATERNOSTER G GAITER A MANES M SCHENA FP PERTOSA G BOTTALICO D CANTAFIO S SALVO E DAGOSTINO F GUIDO A LIMIDO D BERETTA P VIGANO MR DADONE G VERZETTI G NAVINO C BARBE MC RUVA CE AMATO M ATERINI S IPPOLITO E SPLENDIANI G STURNIOLO A COSTANZI S PASSALACQUA S SCATIZZI A DIMAGGIO A MONTEMURRO N VERCELLONE A SEGOLONI G PACITTI A MAFFEI S SCACCIA F FINI R BANDIANI G ANTIGA G NICOLINI MA ASPRONI E CADINU F SALVIETTI N URTI D LORUSSO P DANI L PEONA C FILIBERTI O PORCU MC BARBIERI C COSTA S NICROSINI F MIOLI V BIBIANO L CARLETTI P PANICHI N MELAPPIONI M MECCA G MINGARDI G PERTICUCCI E HUBER W RIEGLER P GIACON B ALTIERI P FERRARA R BOLASCO PG CABIDDU G PAOLILLO A MORGANTE F CASCONE C DELUCA M DEMIN AM CAPOTORTO M UNGARO N SPECCHIO A ALBERTAZZI A DELROSSO G BONOMINI M SURIAN M BONFORTE G DOZIO B FRIZZI V CICIANI AM RAVAGLIA F GIACHINO F BOSTICARDO GM FRANCISCO M BIASIOLI S PETROSINO L CHIMIENTI S CRISTOFANO C PERRONE F GRASSI C ORAZI E BISEGNA S BRACCHI O BAZZATO G TOFFOLETTO PP TESIO F FAIMONDI A BOGGI R CAMPOGIANI V GENTILI F BOLASCO F PISTIS R PILLOSU I STALLONE C AUCELLA F PROCACCINI D AVANZI C SORBA G SOLINAS R COSSU M DEANGELIS S RIPANI R PICCOLI G MARTINA G QUARELLO F BORGHI M MASSAZZA M TAGLIAFERRI M PASCUCCI M GALIOTTA P BERTOLUCCI E SESSA A CONTE F SERBELLONI P VIRGILIO M DELVINO A CONTE M MURA C CONTI P PINNA A NEUMAIR F BONADONNA A STANIC L MUNARETTO G CICCARELLI P STEFONI A BIAGINI M GERACE MS CAPECE R BORDONI E PETROSELLI F SCAFFONE V LOMBARDO V COPPOLA E MICUCCI G CONCETTI M CAPPONI E LISI E RACCOSTA G SANNA GM CALVISI L CHERCHI GL VITALI P CASTELLI P ESTIVI R SAPORITI E DECECCO G LORENZI S MASCHIO G TESSITORE N LOSCHIAVO C ROVATI C ANDREOTTI C GILLI P DEPAOLI E NATILI G PENSALFINI V
Citation: F. Locatelli et al., EFFECTS OF DIFFERENT MEMBRANES AND DIALYSIS TECHNOLOGIES ON PATIENT TREATMENT TOLERANCE AND NUTRITIONAL PARAMETERS, Kidney international, 50(4), 1996, pp. 1293-1302
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
GENETIC-HETEROGENEITY IN CYSTINURIA - THE SLC3A1 GENE IS LINKED TO TYPE-I BUT NOT TO TYPE-III CYSTINURIA
Authors: CALONGE MJ VOLPINI V BISCEGLIA L ROUSAUD F DESANCTIS L BECCIA E ZELANTE L TESTAR X ZORZANO A ESTIVILL X GASPARINI P NUNES V PALACIN M
Citation: Mj. Calonge et al., GENETIC-HETEROGENEITY IN CYSTINURIA - THE SLC3A1 GENE IS LINKED TO TYPE-I BUT NOT TO TYPE-III CYSTINURIA, Proceedings of the National Academy of Sciences of the United Statesof America, 92(21), 1995, pp. 9667-9671
GENETIC-HETEROGENEITY IN CYSTINURIA - NEW MUTATIONS AND POLYMORPHISMS
Authors: CALONGE MJ VOLPINI V BISCEGLIA L PURROY J ROUSAUD F DESANCTIS L BECCIA E ZELANTE L TESTAR X ZORZANO A PONZONE A ESTIVILL X GASPARINI P PALACIN M NUNES V
Citation: Mj. Calonge et al., GENETIC-HETEROGENEITY IN CYSTINURIA - NEW MUTATIONS AND POLYMORPHISMS, American journal of human genetics, 57(4), 1995, pp. 1206-1206
GROWTH IMPAIRMENT, IGF-I HYPOSECRETION AND THYROID-DYSFUNCTION IN CHILDREN WITH PERINATAL HIV-1 INFECTION
Authors: MATARAZZO P PALOMBA E LALA R CIUTI E ALTARE F DESANCTIS L TOVO PA
Citation: P. Matarazzo et al., GROWTH IMPAIRMENT, IGF-I HYPOSECRETION AND THYROID-DYSFUNCTION IN CHILDREN WITH PERINATAL HIV-1 INFECTION, Acta paediatrica, 83(10), 1994, pp. 1029-1034
FIBROBLAST PROLIFERATION OVER DIALYSIS MEMBRANE - AN EXPERIMENTAL-MODEL FOR TISSUE BIOCOMPATIBILITY EVALUATION
Authors: BIAGINI G STEFONI S SOLMI R CASTALDINI C BUTTAZZI R ROSSETTI A BELMONTE MM COSTA AN IANNELLI S BORGNINO LC DESANCTIS L
Citation: G. Biagini et al., FIBROBLAST PROLIFERATION OVER DIALYSIS MEMBRANE - AN EXPERIMENTAL-MODEL FOR TISSUE BIOCOMPATIBILITY EVALUATION, International journal of artificial organs, 17(12), 1994, pp. 620-628
GENETIC HISTORY OF PHENYLKETONURIA MUTATIONS IN ITALY
Authors: DIANZANI I GIANNATTASIO S DESANCTIS L MARRA E PONZONE A CAMASCHELLA C PIAZZA A
Citation: I. Dianzani et al., GENETIC HISTORY OF PHENYLKETONURIA MUTATIONS IN ITALY, American journal of human genetics, 55(4), 1994, pp. 851-853
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