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Results: 1-9 |
Results: 9
CONGENITAL ABSENCE OF THE VASA DEFERENTIA - CYSTIC-FIBROSIS PHENOTYPE
Authors: QUATTRUCCI S BERTASI S LENZI A LUCARELLI M SEIA M RAJNOLDI AC ANTONELLI M
Citation: S. Quattrucci et al., CONGENITAL ABSENCE OF THE VASA DEFERENTIA - CYSTIC-FIBROSIS PHENOTYPE, Rivista italiana di pediatria, 24(2), 1998, pp. 82-84
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
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
FIRST REPORT OF 3 CYSTIC-FIBROSIS PATIENTS HOMOZYGOUS FOR THE 1717-1G-]A MUTATION
Authors: PADOAN R GIUNTA A MARZANO MT SEIA M RAIA V FERRARI M CREMONESI L
Citation: R. Padoan et al., FIRST REPORT OF 3 CYSTIC-FIBROSIS PATIENTS HOMOZYGOUS FOR THE 1717-1G-]A MUTATION, Journal of Medical Genetics, 33(12), 1996, pp. 1052-1054
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
SIMULTANEOUS DETECTION OF 14 ITALIAN CYSTIC-FIBROSIS MUTATIONS IN 7 EXONS BY REVERSE DOT-BLOT ANALYSIS
Authors: RADY M DALCAMO E SEIA M IAPICHINO L FERARI M RUSSO S ROMEO G MAGGIO A
Citation: M. Rady et al., SIMULTANEOUS DETECTION OF 14 ITALIAN CYSTIC-FIBROSIS MUTATIONS IN 7 EXONS BY REVERSE DOT-BLOT ANALYSIS, Molecular and cellular probes, 9(5), 1995, pp. 357-360
SEARCH FOR MUTATIONS IN PANCREATIC SUFFICIENT CYSTIC-FIBROSIS ITALIANPATIENTS - DETECTION OF 90-PERCENT OF MOLECULAR DEFECTS AND IDENTIFICATION OF 3 NOVEL MUTATIONS
Authors: BRANCOLINI V CREMONESI L BELLONI E PAPPALARDO E BORDONI R SEIA M RUSSO S PADOAN R GIUNTA A FERRARI M
Citation: V. Brancolini et al., SEARCH FOR MUTATIONS IN PANCREATIC SUFFICIENT CYSTIC-FIBROSIS ITALIANPATIENTS - DETECTION OF 90-PERCENT OF MOLECULAR DEFECTS AND IDENTIFICATION OF 3 NOVEL MUTATIONS, Human genetics, 96(3), 1995, pp. 312-318
ANALYSIS OF RISK-FACTORS FOR THE DEVELOPMENT OF LIVER-DISEASE ASSOCIATED WITH CYSTIC-FIBROSIS
Authors: COLOMBO C APOSTOLO MG FERRARI M SEIA M GENONI S GIUNTA A SERENI LP
Citation: C. Colombo et al., ANALYSIS OF RISK-FACTORS FOR THE DEVELOPMENT OF LIVER-DISEASE ASSOCIATED WITH CYSTIC-FIBROSIS, The Journal of pediatrics, 124(3), 1994, pp. 393-399
INFORMATIVITY OF INTRAGENIC MICROSATELLITES FOR CARRIER DETECTION ANDPRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS IN THE ITALIAN POPULATION
Authors: MAGNANI C CREMONESI L BELLONI E FERRARI M SEIA M RUSSO MP DEVOTO M RONCHETTO P ROMEO G
Citation: C. Magnani et al., INFORMATIVITY OF INTRAGENIC MICROSATELLITES FOR CARRIER DETECTION ANDPRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS IN THE ITALIAN POPULATION, Clinical genetics, 45(3), 1994, pp. 135-139
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