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Results: 1-25 | 26-50 | 51-69
Results: 1-25/69
ASTHMA AND BRONCHIAL HYPERRESPONSIVENESS LINKED TO THE XY LONG ARM PSEUDOAUTOSOMAL REGION
Authors: HOLROYD KJ MARTINATI LC TRABETTI E SCHERPBIER T ELEFF SM BONER AL PIGNATTI PF KISER MB DRAGWA CR HUBBARD F SULLIVAN CD GRASSO L MESSLER CJ HUANG MX HU Y NICOLAIDES NC BUETOW KH LEVITT RC
Citation: Kj. Holroyd et al., ASTHMA AND BRONCHIAL HYPERRESPONSIVENESS LINKED TO THE XY LONG ARM PSEUDOAUTOSOMAL REGION, Genomics (San Diego, Calif.), 52(2), 1998, pp. 233-235
MOLECULAR-GENETIC CHARACTERIZATION OF 2 METACHROMATIC LEUKODYSTROPHY PATIENTS WHO CARRY THE T799G MUTATION AND SHOW DIFFERENT PHENOTYPES - DESCRIPTION OF A NOVEL NULL-TYPE MUTATION (VOL 102, PG 459, 1998)
Authors: GOMEZLIRA M PERUSI C MOTTES M PIGNATTI PF MANFREDI M RIZZUTO N SALVIATI A
Citation: M. Gomezlira et al., MOLECULAR-GENETIC CHARACTERIZATION OF 2 METACHROMATIC LEUKODYSTROPHY PATIENTS WHO CARRY THE T799G MUTATION AND SHOW DIFFERENT PHENOTYPES - DESCRIPTION OF A NOVEL NULL-TYPE MUTATION (VOL 102, PG 459, 1998), Human genetics, 102(5), 1998, pp. 602-602
MOLECULAR-GENETIC CHARACTERIZATION OF 2 METACHROMATIC LEUKODYSTROPHY PATIENTS WHO CARRY THE T799G MUTATION AND SHOW DIFFERENT PHENOTYPES - DESCRIPTION OF A NOVEL NULL-TYPE MUTATION
Authors: GOMEZLIRA M PERUSI C MOTTES M PIGNATTI PF MANFREDI M RIZZUTO N SALVIATI A
Citation: M. Gomezlira et al., MOLECULAR-GENETIC CHARACTERIZATION OF 2 METACHROMATIC LEUKODYSTROPHY PATIENTS WHO CARRY THE T799G MUTATION AND SHOW DIFFERENT PHENOTYPES - DESCRIPTION OF A NOVEL NULL-TYPE MUTATION, Human genetics, 102(4), 1998, pp. 459-463
SPLICING MUTATION CAUSES INFANTILE SANDHOFF-DISEASE
Authors: GOMEZLIRA M PERUSI C MOTTES M PIGNATTI PF RIZZUTO N GATTI R SALVIATI A
Citation: M. Gomezlira et al., SPLICING MUTATION CAUSES INFANTILE SANDHOFF-DISEASE, American journal of medical genetics, 75(3), 1998, pp. 330-333
ASSOCIATION OF THE FC-EPSILON-RI-BETA GENE WITH BRONCHIAL HYPERRESPONSIVENESS IN AN ITALIAN POPULATION
Authors: TRABETTI E CUSIN V MALERBA G MARTINATI LC CASARTELLI A BONER AL PIGNATTI PF
Citation: E. Trabetti et al., ASSOCIATION OF THE FC-EPSILON-RI-BETA GENE WITH BRONCHIAL HYPERRESPONSIVENESS IN AN ITALIAN POPULATION, Journal of Medical Genetics, 35(8), 1998, pp. 680-681
ALLELE FREQUENCIES OF 6 HIGHLY POLYMORPHIC DNA LOCI IN THE CROATIAN POPULATION
Authors: DRMIC I SCHANFIELD MS ANDJELINOVIC S GALAVOTTI R GOJANOVIC MD TRABETTI E MARASOVIC D PRIMORAC D PIGNATTI PF
Citation: I. Drmic et al., ALLELE FREQUENCIES OF 6 HIGHLY POLYMORPHIC DNA LOCI IN THE CROATIAN POPULATION, Human biology, 70(5), 1998, pp. 949-957
POST-METHIONINE IN PATIENTS WITH LOADING HYPERHOMOCYSTEINEMIA ANGIOGRAPHICALLY DOCUMENTED CORONARY-ARTERY DISEASE
Authors: GIRELLI D FRISO S OLIVIERI O RUSSO C TRABETTI E PESSOTTO R FACCINI G ZENARI ML GRAZIOLI S MINGUZZI D PIGNATTI PF MAZZUCCO A CORROCHER R
Citation: D. Girelli et al., POST-METHIONINE IN PATIENTS WITH LOADING HYPERHOMOCYSTEINEMIA ANGIOGRAPHICALLY DOCUMENTED CORONARY-ARTERY DISEASE, British Journal of Haematology, 102(1), 1998, pp. 251-251
METHYLENETETRAHYDROFOLATE REDUCTASE C677T MUTATION, PLASMA HOMOCYSTEINE, AND FOLATE IN SUBJECTS FROM NORTHERN ITALY WITH OR WITHOUT ANGIOGRAPHICALLY DOCUMENTED SEVERE CORONARY ATHEROSCLEROTIC DISEASE - EVIDENCE FOR AN IMPORTANT GENETIC-ENVIRONMENTAL INTERACTION
Authors: GIRELLI D FRISO S TRABETTI E OLIVIERI O RUSSO C PESSOTTO R FACCINI G PIGNATTI PF MAZZUCCO A CORROCHER R
Citation: D. Girelli et al., METHYLENETETRAHYDROFOLATE REDUCTASE C677T MUTATION, PLASMA HOMOCYSTEINE, AND FOLATE IN SUBJECTS FROM NORTHERN ITALY WITH OR WITHOUT ANGIOGRAPHICALLY DOCUMENTED SEVERE CORONARY ATHEROSCLEROTIC DISEASE - EVIDENCE FOR AN IMPORTANT GENETIC-ENVIRONMENTAL INTERACTION, Blood, 91(11), 1998, pp. 4158-4163
GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS
Authors: ESTIVILL X BANCELLS C RAMOS C PIAZZA A CARBONARA A MASTELLA G BONIZZATO A CASTALDI G DALCAMO E FERRARI M GASPARINI P GUANTI G LEONI GB PIGNATTI PF RONCHETTO P SEIA M TORRICELLI F GOOSSENS M CHEVALIERPORST F BOZON D SIMONBOUY B FELDMANN D ELION J KAPLAN JC FEREC C CLAUSTRES M CLAVEL C PUCHELLE E LUNARDI J MATHIEU M SCHEFFER H HALLEY DJJ VANDENOUWELAND AMW TIJMENSEN ASLN CASALS T GIMENEZ FJ RAMOS L BENEYTO M BENITEZ J PALACIO A TUMMLER B BAUER I MEITINGER T CLAASS A LINDNER M SCHRODER E STUHRMANN M CASSIMAN J CUPPENS H COCHAUX P PONCIN J MESSIAN L BARANOV VS IVASCHENKO TE BAKAY M BAL J WITT M KANAVAKIS M TZETIS M ANTONIADI T LAVINHA J PACHECO P DUARTE A LOUREIRO P KALAYDJIEVA L ANGELICHEVA D JORDANOVA A SAVOV A EIKLID K HOLMBERG L SCHAEDEL C OZGUC M GOCMEN A ERDERN H LIECHTIGALLATI S NEMETI M FEKETE G KLAASSEN T SCHWARZ M SCHWARTZ M MACEK M MACEK M KREBSOVA A VAVROVA V KEREM B AVELIOVICH D FERAK V KADASI L KAYSEROVA H GLAVAC D RAVNIKGLAVAC M EFREMOV GD CANKIKLEIN N KERE J
Citation: X. Estivill et al., GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS, Human mutation, 10(2), 1997, pp. 135-154
3 NOVEL MUTATIONS OF THE PKD1 GENE IN ITALIAN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE
Authors: TURCO AE ROSSETTI S BRESIN E ENGLISCH S CORRA S PIGNATTI PF
Citation: Ae. Turco et al., 3 NOVEL MUTATIONS OF THE PKD1 GENE IN ITALIAN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE, Human mutation, 10(2), 1997, pp. 164-167
ACE GENOTYPE IN ADPKD-1 - A MARKER FOR A FASTER PROGRESSION TO END-STAGE RENAL-FAILURE (ESRF)
Authors: OLDRIZZI L MARCANTONI C TURCO AE GAMMARO L PIGNATTI PF MASCHIO G
Citation: L. Oldrizzi et al., ACE GENOTYPE IN ADPKD-1 - A MARKER FOR A FASTER PROGRESSION TO END-STAGE RENAL-FAILURE (ESRF), Journal of the American Society of Nephrology, 8, 1997, pp. 1743-1743
MOLECULAR DNA-BASED DIAGNOSTICS IN A LARGE SERIES OF EUROPEAN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) - AN UPDATE
Authors: TURCO AE BRESIN E SOLI F ROSSETTI S GAMMARO L OLDRIZZI L MASCHIO G PIGNATTI PF TESSITORE N
Citation: Ae. Turco et al., MOLECULAR DNA-BASED DIAGNOSTICS IN A LARGE SERIES OF EUROPEAN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) - AN UPDATE, Journal of the American Society of Nephrology, 8, 1997, pp. 1767-1767
A NOVEL MUTATION WHICH REPRESENTS THE 5TH NONPATHOGENIC POLYMORPHISM IN THE CODING SEQUENCE OF THE ARYLSULFATASE-A GENE
Authors: PERUSI C GOMEZLIRA M MOTTES M PIGNATTI PF RIZZUTO N SALVIATI A
Citation: C. Perusi et al., A NOVEL MUTATION WHICH REPRESENTS THE 5TH NONPATHOGENIC POLYMORPHISM IN THE CODING SEQUENCE OF THE ARYLSULFATASE-A GENE, Molecular and cellular probes, 11(6), 1997, pp. 449-451
DETECTION OF MUTATIONS IN HUMAN GENES BY A NEW RAPID METHOD - CLEAVAGE FRAGMENT LENGTH POLYMORPHISM ANALYSIS (CFLPA)
Authors: ROSSETTI S ENGLISCH S BRESIN E PIGNATTI PF TURCO AE
Citation: S. Rossetti et al., DETECTION OF MUTATIONS IN HUMAN GENES BY A NEW RAPID METHOD - CLEAVAGE FRAGMENT LENGTH POLYMORPHISM ANALYSIS (CFLPA), Molecular and cellular probes, 11(2), 1997, pp. 155-160
EARLY DETECTION OF BONE-MARROW ENGRAFTMENT BY AMPLIFICATION OF HYPERVARIABLE DNA REGIONS
Authors: MARTINELLI G TRABETTI E FARABEGOLI P TESTONI N BANDINI G MOTTA MR VITTONE A TERRAGNA C PIGNATTI PF TURA S
Citation: G. Martinelli et al., EARLY DETECTION OF BONE-MARROW ENGRAFTMENT BY AMPLIFICATION OF HYPERVARIABLE DNA REGIONS, Haematologica, 82(2), 1997, pp. 156-160
METHYLENETETRAHYDROFOLATE REDUCTASE C677T MUTATION, PLASMA HOMOCYSTEINE AND FOLATE, IN A POPULATION OF CORONARY-ARTERY DISEASE PATIENTS FROM NORTHERN ITALY
Authors: GIRELLI D FRISO S TRABETTI E OLIVIERI O PESSOTTO R FACCINI G RUSSO C GUARINI P MINGUZZI D PIGNATTI PF MAZZUCCO A CORROCHER R
Citation: D. Girelli et al., METHYLENETETRAHYDROFOLATE REDUCTASE C677T MUTATION, PLASMA HOMOCYSTEINE AND FOLATE, IN A POPULATION OF CORONARY-ARTERY DISEASE PATIENTS FROM NORTHERN ITALY, Thrombosis and haemostasis, 1997, pp. 2161-2161
RAPID DNA-BASED PRENATAL-DIAGNOSIS BY GENETIC-LINKAGE IN 3 FAMILIES WITH ALPORTS-SYNDROME
Authors: TURCO AE BRESIN E ROSSETTI S PETERLIN B MORANDI R PIGNATTI PF
Citation: Ae. Turco et al., RAPID DNA-BASED PRENATAL-DIAGNOSIS BY GENETIC-LINKAGE IN 3 FAMILIES WITH ALPORTS-SYNDROME, American journal of kidney diseases, 30(2), 1997, pp. 174-179
MUTATION PRODUCING ALTERNATIVE SPLICING OF EXON-26 IN THE COL1A2 GENECAUSES TYPE-IV OSTEOGENESIS IMPERFECTA WITH INTRAFAMILIAL CLINICAL VARIABILITY
Authors: ZOLEZZI F VALLI M CLEMENTI M MAMMI I CETTA G PIGNATTI PF MOTTES M
Citation: F. Zolezzi et al., MUTATION PRODUCING ALTERNATIVE SPLICING OF EXON-26 IN THE COL1A2 GENECAUSES TYPE-IV OSTEOGENESIS IMPERFECTA WITH INTRAFAMILIAL CLINICAL VARIABILITY, American journal of medical genetics, 71(3), 1997, pp. 366-370
METHYLENETETRAHYDROFOLATE REDUCTASE C677T MUTATION, PLASMA HOMOCYSTEINE AND FOLATE LEVELS IN ITALIAN PATIENTS WITH CORONARY-ARTERY DISEASE - EVIDENCE FOR AN IMPORTANT GENE-ENVIRONMENT INTERACTION
Authors: FRISO S GIRELLI D TRABETTI E OLIVIERI O RUSSO C PESSOTTO R FACCINI G GUARINI P MINGUZZI D ZENARI ML PIGNATTI PF MAZZUCCO A CORROCHER R
Citation: S. Friso et al., METHYLENETETRAHYDROFOLATE REDUCTASE C677T MUTATION, PLASMA HOMOCYSTEINE AND FOLATE LEVELS IN ITALIAN PATIENTS WITH CORONARY-ARTERY DISEASE - EVIDENCE FOR AN IMPORTANT GENE-ENVIRONMENT INTERACTION, Blood, 90(10), 1997, pp. 666-666
GENETIC HISTORY OF CYSTIC-FIBROSIS MUTATIONS IN ITALY - I - REGIONAL DISTRIBUTION
Authors: RENDINE S CALAFELL F CAPPELLO N GAGLIARDINI R CARAMIA G RIGILLO N SILVETTI M ZANDA M MIANO A BATTISTINI F MARIANELLI L TACCETTI G DIANA MC ROMANO L ROMANO C GIUNTA A PADOAN R PIANAROLI A RAIA V DERITIS G BATTISTINI A GRZINCICH G JAPICHINO L PARDO F ANTONELLI M QUATTRUCCI S LUCIDI V CASTRO M SANTINI B CASTELLO M GUANTI G LEONI GB CAO A TOFFOLI C LUCCI E VULLO C TORRICELLI F SBERNINI F ROMEO G RONCHETTO P SEIA M ROSSI A FERRARI M CREMONESI L SALVATORE F CASTALDO G DALCAMO E MAGGIO A SANGIUOLO F DALLAPICCOLA B MACERATESI P BISCEGLIA L GASPARINI P CARBONARA A BONIZZATO A CABRINI G BOMBIERI C PIGNATTI PF BORGO G CASTELLANI C VILLANI A ARDUINO C SALVATORE D MASTELLA G PIAZZA A
Citation: S. Rendine et al., GENETIC HISTORY OF CYSTIC-FIBROSIS MUTATIONS IN ITALY - I - REGIONAL DISTRIBUTION, Annals of Human Genetics, 61, 1997, pp. 411-424
GENETIC-COUNSELING, DNA-BASED INVESTIGATIONS AND PRESYMPTOMATIC MOLECULAR DIAGNOSIS IN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) AND ALPORT-SYNDROME (AS) - AN UPDATE FROM THE EXPERIENCE IN VERONA, ITALY
Authors: TURCO AE BRESIN E SOLI F ROSSETTI S GAMMARO L MASCHIO G PIGNATTI PF
Citation: Ae. Turco et al., GENETIC-COUNSELING, DNA-BASED INVESTIGATIONS AND PRESYMPTOMATIC MOLECULAR DIAGNOSIS IN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) AND ALPORT-SYNDROME (AS) - AN UPDATE FROM THE EXPERIENCE IN VERONA, ITALY, American journal of human genetics, 61(4), 1997, pp. 1111-1111
ALLELIC VARIANTS OF HUMAN CALCITONIN RECEPTOR GENE (CALCR) IN THE ITALIAN POPULATION AND IN OSTEOPOROTIC PATIENTS
Authors: MOTTES M RIGATELLI F LISI V BRAGA V ADAMI S PIGNATTI PF
Citation: M. Mottes et al., ALLELIC VARIANTS OF HUMAN CALCITONIN RECEPTOR GENE (CALCR) IN THE ITALIAN POPULATION AND IN OSTEOPOROTIC PATIENTS, American journal of human genetics, 61(4), 1997, pp. 1193-1193
ASSOCIATION OF THE FC-EPSILON-RI-BETA GENE WITH BRONCHIAL HYPERRESPONSIVENESS IN AN ITALIAN POPULATION-SAMPLE
Authors: PIGNATTI PF TRABETTI E CUSIN V MALERBA G MARTINATI LC CASARTELLI A BONER AL
Citation: Pf. Pignatti et al., ASSOCIATION OF THE FC-EPSILON-RI-BETA GENE WITH BRONCHIAL HYPERRESPONSIVENESS IN AN ITALIAN POPULATION-SAMPLE, American journal of human genetics, 61(4), 1997, pp. 1698-1698
AFFECTED SIB-PAIR AND MUTATION ANALYSES OF THE HIGH-AFFINITY IGE RECEPTOR-BETA CHAIN LOCUS IN ITALIAN FAMILIES WITH ATOPIC ASTHMATIC-CHILDREN
Authors: MARTINATI LC TRABETTI E CASARTELLI A BONER AL PIGNATTI PF
Citation: Lc. Martinati et al., AFFECTED SIB-PAIR AND MUTATION ANALYSES OF THE HIGH-AFFINITY IGE RECEPTOR-BETA CHAIN LOCUS IN ITALIAN FAMILIES WITH ATOPIC ASTHMATIC-CHILDREN, American journal of respiratory and critical care medicine, 153(5), 1996, pp. 1682-1685
DETECTION OF 2 DIFFERENT NONSENSE MUTATIONS IN EXON-44 OF THE PKD1 GENE IN 2 UNRELATED ITALIAN FAMILIES WITH SEVERE AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE
Authors: TURCO AE ROSSETTI S BRESIN E CORRA S RESTAGNO G CARBONARA A DEPRISCO O GAMMARO L MASCHIO G PIGNATTI PF
Citation: Ae. Turco et al., DETECTION OF 2 DIFFERENT NONSENSE MUTATIONS IN EXON-44 OF THE PKD1 GENE IN 2 UNRELATED ITALIAN FAMILIES WITH SEVERE AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE, Nephrology, dialysis, transplantation, 11, 1996, pp. 10-12
Risultati: 1-25 | 26-50 | 51-69