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Results: 1-13 |
Results: 13
GENE-TRANSFER AND BASE DEFECT IN CYSTIC-FIBROSIS
Authors: BONIZZATO A DECHECCHI MC MELOTTI P NICOLIS E ROLFINI R TAMANINI A CABRINI G
Citation: A. Bonizzato et al., GENE-TRANSFER AND BASE DEFECT IN CYSTIC-FIBROSIS, Rivista italiana di pediatria, 24(2), 1998, pp. 104-104
CFTR MUTATIONS AND IVS8-5T PREVALENCE IN IDIOPATHIC CHRONIC AND ACUTERECURRENT PANCREATITIS
Authors: CASTELLANI C SGARBI D CAVALLINI G DIFRANCESCO V BOVO P FRULLONI L VAONA B BONIZZATO A BASSI C FALCONI M PEDERZOLI P MASTELLA G
Citation: C. Castellani et al., CFTR MUTATIONS AND IVS8-5T PREVALENCE IN IDIOPATHIC CHRONIC AND ACUTERECURRENT PANCREATITIS, Gastroenterology, 114(4), 1998, pp. 1811-1811
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
NASAL POTENTIAL DIFFERENCE IN CYSTIC-FIBROSIS PATIENTS PRESENTING BORDERLINE SWEAT TEST
Authors: DELMARCO A PRADAL U CABRINI G BONIZZATO A MASTELLA G
Citation: A. Delmarco et al., NASAL POTENTIAL DIFFERENCE IN CYSTIC-FIBROSIS PATIENTS PRESENTING BORDERLINE SWEAT TEST, The European respiratory journal, 10(5), 1997, pp. 1145-1149
NEWBORN SCREENING STRATEGY FOR CYSTIC-FIBROSIS - A FIELD-STUDY IN AN AREA WITH HIGH ALLELIC HETEROGENEITY
Authors: CASTELLANI C BONIZZATO A CABRINI G MASTELLA G
Citation: C. Castellani et al., NEWBORN SCREENING STRATEGY FOR CYSTIC-FIBROSIS - A FIELD-STUDY IN AN AREA WITH HIGH ALLELIC HETEROGENEITY, Acta paediatrica, 86(5), 1997, pp. 497-502
CFTR MUTATIONS AND IVS8-5T VARIANT IN NEWBORNS WITH HYPERTRYPSINAEMIAAND NORMAL SWEAT TEST
Authors: CASTELLANI C BONIZZATO A MASTELLA G
Citation: C. Castellani et al., CFTR MUTATIONS AND IVS8-5T VARIANT IN NEWBORNS WITH HYPERTRYPSINAEMIAAND NORMAL SWEAT TEST, Journal of Medical Genetics, 34(4), 1997, pp. 297-301
IDENTIFICATION OF A DOUBLE MUTATION (D160V-K161E) IN THE P67PHOX GENEOF A CHRONIC GRANULOMATOUS-DISEASE PATIENT
Authors: BONIZZATO A RUSSO MP DONINI M DUSI S
Citation: A. Bonizzato et al., IDENTIFICATION OF A DOUBLE MUTATION (D160V-K161E) IN THE P67PHOX GENEOF A CHRONIC GRANULOMATOUS-DISEASE PATIENT, Biochemical and biophysical research communications, 231(3), 1997, pp. 861-863
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
NO EVIDENCE FOR SEGREGATION DISTORTION OF CYSTIC-FIBROSIS ALLELES AMONG SIBS OF CYSTIC-FIBROSIS PATIENTS
Authors: DEVOTO M ROMEO G TENKATE LP CHEVALIER F BOZON D ESTIVILL X CASALS T ABELIOVICH D LERER I PADOAN R SEIA M HILL A LIECHTIGALLATI S KRAMER R BEARDS F DEAR S DALLAPICCOLA B SANGIUOLO F MACEK M MACEK M MCMAHON R CONNARTY M HARVEY JF CLAUSTRES M DESGEORGES M DEVRIES R SCHEFFER H CANKIKLAIN N AUDREZET MP BIENVENU T CHOMEL JC DZIADEK V TUMMLER B SCHWARZ M HAWORTH A BENITEZ J FERNANDEZ E MAZURCZAK T BAL J CREMONESI L RONCHETTO P CASHMAN SM FEREC C CUPPENS H BAUER I ANGELICHEVA D WAGNER K PACHECO P BONIZZATO A WITT M MCMAHON CJ RAVNIKGLAVAC M REIS A STUHRMANN M GARNERONE S CURTIS A GRUNING G KANAVAKIS E KLAASSEN T GRADE T
Citation: M. Devoto et al., NO EVIDENCE FOR SEGREGATION DISTORTION OF CYSTIC-FIBROSIS ALLELES AMONG SIBS OF CYSTIC-FIBROSIS PATIENTS, European journal of human genetics, 3(5), 1995, pp. 324-325
ANALYSIS OF THE COMPLETE CODING REGION OF THE CFTR GENE IN A COHORT OF CF PATIENTS FROM NORTH-EASTERN ITALY - IDENTIFICATION OF 90-PERCENT OF THE MUTATIONS
Authors: BONIZZATO A BISCEGLIA L MARIGO C NICOLIS E BOMBIERI C CASTELLANI C BORGO G ZELANTE L MASTELLA G CABRINI G GASPARINI P PIGNATTI PF
Citation: A. Bonizzato et al., ANALYSIS OF THE COMPLETE CODING REGION OF THE CFTR GENE IN A COHORT OF CF PATIENTS FROM NORTH-EASTERN ITALY - IDENTIFICATION OF 90-PERCENT OF THE MUTATIONS, Human genetics, 95(4), 1995, pp. 397-402
BURKHOLDERIA CEPACIA AND DELTA-F508 HOMOZYGOSITY IN CYSTIC-FIBROSIS
Authors: CASTELLANI C BONIZZATO A CAZZOLA GA AMALFITANO G MASTELLA G
Citation: C. Castellani et al., BURKHOLDERIA CEPACIA AND DELTA-F508 HOMOZYGOSITY IN CYSTIC-FIBROSIS, Archives of Disease in Childhood, 73(3), 1995, pp. 276-276
CYSTIC-FIBROSIS - THE DELTA-F508 MUTATION DOES NOT LEAD TO AN EXCEPTIONALLY SEVERE PHENOTYPE - A COHORT STUDY
Authors: BORGO G GASPARINI P BONIZZATO A CABRINI G MASTELLA G PIGNATTI PF
Citation: G. Borgo et al., CYSTIC-FIBROSIS - THE DELTA-F508 MUTATION DOES NOT LEAD TO AN EXCEPTIONALLY SEVERE PHENOTYPE - A COHORT STUDY, European journal of pediatrics, 152(12), 1993, pp. 1006-1011
IDENTIFICATION OF A NEW DNA POLYMORPHISM TIGHTLY LINKED TO DQ-ALPHA LOCUS
Authors: GASPARINI P BONIZZATO A TOTARO A ZELANTE L
Citation: P. Gasparini et al., IDENTIFICATION OF A NEW DNA POLYMORPHISM TIGHTLY LINKED TO DQ-ALPHA LOCUS, Experimental and clinical immunogenetics, 10(3), 1993, pp. 176-178
Risultati: 1-13 |