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Results: 1-25 | 26-50 | 51-69 |
Results: 51-69/69
A NOVEL FRAMESHIFT DELETION IN TYPE-IV COLLAGEN ALPHA-5 GENE IN A JUVENILE-TYPE ALPORT SYNDROME PATIENT - AN ADENINE DELETION (2940 2943 DEL A) IN EXON 34 OF COL4A5/
Authors: PEISSEL B ROSSETTI S RENIERI A GALLI L DEMARCHI M BATTINI G MERONI M SESSA A SCHIAVANO S PIGNATTI PF TURCO AE
Citation: B. Peissel et al., A NOVEL FRAMESHIFT DELETION IN TYPE-IV COLLAGEN ALPHA-5 GENE IN A JUVENILE-TYPE ALPORT SYNDROME PATIENT - AN ADENINE DELETION (2940 2943 DEL A) IN EXON 34 OF COL4A5/, Human mutation, 3(4), 1994, pp. 386-390
SEVERE (TYPE-III) OSTEOGENESIS IMPERFECTA DUE TO GLYCINE SUBSTITUTIONS IN THE CENTRAL DOMAIN OF THE COLLAGEN TRIPLE-HELIX
Authors: FORLINO A ZOLEZZI F VALLI M PIGNATTI PF CETTA G BRUNELLI PC MOTTES M
Citation: A. Forlino et al., SEVERE (TYPE-III) OSTEOGENESIS IMPERFECTA DUE TO GLYCINE SUBSTITUTIONS IN THE CENTRAL DOMAIN OF THE COLLAGEN TRIPLE-HELIX, Human molecular genetics, 3(12), 1994, pp. 2201-2206
COMPLETE DETECTION OF MUTATIONS IN CYSTIC-FIBROSIS PATIENTS OF NATIVE-AMERICAN ORIGIN
Authors: MERCIER B RAGUENES O ESTIVILL X MORRAL N KAPLAN GC MCCLURE M GREBE TA KESSLER D PIGNATTI PF MARIGO C BOMBIERI C AUDREZET MP VERLINGUE C FEREC C
Citation: B. Mercier et al., COMPLETE DETECTION OF MUTATIONS IN CYSTIC-FIBROSIS PATIENTS OF NATIVE-AMERICAN ORIGIN, Human genetics, 94(6), 1994, pp. 629-632
A BASE SUBSTITUTION AT IVS-19 3'-END SPLICE JUNCTION CAUSES EXON-20 SKIPPING IN PRO-ALPHA-2(I) COLLAGEN MESSENGER-RNA AND PRODUCES MILD OSTEOGENESIS-IMPERFECTA
Authors: MOTTES M SANGALLI A VALLI M FORLINO A GOMEZLIRA M ANTONIAZZI F CONSTANTINOUDELTAS CD CETTA G PIGNATTI PF
Citation: M. Mottes et al., A BASE SUBSTITUTION AT IVS-19 3'-END SPLICE JUNCTION CAUSES EXON-20 SKIPPING IN PRO-ALPHA-2(I) COLLAGEN MESSENGER-RNA AND PRODUCES MILD OSTEOGENESIS-IMPERFECTA, Human genetics, 93(6), 1994, pp. 681-687
SKELETAL MALFORMATIONS AND POLYCYSTIC KIDNEY-DISEASE
Authors: TURCO AE PEISSEL B ROSSETTI S PIGNATTI PF PADOVANI EM CHIAFFONI GP
Citation: Ae. Turco et al., SKELETAL MALFORMATIONS AND POLYCYSTIC KIDNEY-DISEASE, Journal of Medical Genetics, 31(9), 1994, pp. 741-742
DETERMINATION OF A NEW COLLAGEN TYPE-I ALPHA-2 GENE POINT MUTATION WHICH CAUSES A GLY640 CYS SUBSTITUTION IN OSTEOGENESIS IMPERFECTA AND PRENATAL-DIAGNOSIS BY DNA HYBRIDIZATION
Authors: GOMEZLIRA M SANGALLI A PIGNATTI PF DIGILIO MC GIANNOTTI A CARNEVALE E MOTTES M
Citation: M. Gomezlira et al., DETERMINATION OF A NEW COLLAGEN TYPE-I ALPHA-2 GENE POINT MUTATION WHICH CAUSES A GLY640 CYS SUBSTITUTION IN OSTEOGENESIS IMPERFECTA AND PRENATAL-DIAGNOSIS BY DNA HYBRIDIZATION, Journal of Medical Genetics, 31(12), 1994, pp. 965-968
SCREENING OF 62 MUTATIONS IN A COHORT OF CYSTIC-FIBROSIS PATIENTS FROM NORTH EASTERN ITALY - THEIR INCIDENCE AND CLINICAL-FEATURES OF DEFINED GENOTYPES
Authors: GASPARINI P MARIGO C BISCEGLIA G NICOLIS E ZELANTE L BOMBIERI C BORGO G PIGNATTI PF CABRINI G
Citation: P. Gasparini et al., SCREENING OF 62 MUTATIONS IN A COHORT OF CYSTIC-FIBROSIS PATIENTS FROM NORTH EASTERN ITALY - THEIR INCIDENCE AND CLINICAL-FEATURES OF DEFINED GENOTYPES, Human mutation, 2(5), 1993, pp. 389-394
PATERNAL MOSAICISM FOR A COL1A1 DOMINANT MUTATION (ALPHA-1 SER-415) CAUSES RECURRENT OSTEOGENESIS IMPERFECTA
Authors: MOTTES M LIRA MMG VALLI M SCARANO G LONARDO F FORLINO A CETTA G PIGNATTI PF
Citation: M. Mottes et al., PATERNAL MOSAICISM FOR A COL1A1 DOMINANT MUTATION (ALPHA-1 SER-415) CAUSES RECURRENT OSTEOGENESIS IMPERFECTA, Human mutation, 2(3), 1993, pp. 196-204
HAPLOTYPE ANALYSIS TO DETERMINE THE POSITION OF A MUTATION AMONG CLOSELY LINKED DNA MARKERS (VOL 2, PG 1007, 1993)
Authors: RAMSAY M WILLIAMSON R ESTIVILL X WAINWRIGHT BJ HO MF HALFORD S KERE J SAVILAHTI E DELACHAPELLE A SCHWARTZ M SCHWARTZ M SUPER M FARNDON P HARDING C MEREDITH L ALJADER L FEREC C CLAUSTRES M CASALS T NUNES V GASPARINI P SAVOIA A PIGNATTI PF NOVELLI G GENNARELLI M DALLAPICCOLA B KALAYDJIEVA L SCAMBLER PJ
Citation: M. Ramsay et al., HAPLOTYPE ANALYSIS TO DETERMINE THE POSITION OF A MUTATION AMONG CLOSELY LINKED DNA MARKERS (VOL 2, PG 1007, 1993), Human molecular genetics, 2(9), 1993, pp. 1523-1523
HAPLOTYPE ANALYSIS TO DETERMINE THE POSITION OF A MUTATION AMONG CLOSELY LINKED DNA MARKERS
Authors: RAMSAY M WILLIAMSON R ESTIVILL X WAINWRIGHT BJ HO MF HALFORD S KERE J SAVILAHTI E DELACHAPELLE A SCHWARTZ M SCHWARTZ M SUPER M FARNDON P HARDING C MEREDITH L ALJADER L FEREC C CLAUSTRES M CASALS T NUNES V GASPARINI P SAVOIA A PIGNATTI PF NOVELLI G BENNARELLI M DALLAPICCOLA B KALAYDJIEVA L SCAMBLER PJ
Citation: M. Ramsay et al., HAPLOTYPE ANALYSIS TO DETERMINE THE POSITION OF A MUTATION AMONG CLOSELY LINKED DNA MARKERS, Human molecular genetics, 2(7), 1993, pp. 1007-1014
THE PARENTAL ORIGIN OF HYDATIDIFORM MOLES AND BLIGHTED OVA - MOLECULAR PROBING WITH HYPERVARIABLE DNA POLYMORPHISMS
Authors: TRABETTI E GALAVOTTI R ZANINI L ZARDINI E ZATTI N BERNARDI F NOTARANGELO A CROCE AI PIGNATTI PF GASPARINI P
Citation: E. Trabetti et al., THE PARENTAL ORIGIN OF HYDATIDIFORM MOLES AND BLIGHTED OVA - MOLECULAR PROBING WITH HYPERVARIABLE DNA POLYMORPHISMS, Molecular and cellular probes, 7(4), 1993, pp. 325-329
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
IN-VITRO AMPLIFICATION OF HYPERVARIABLE DNA REGIONS FOR THE EVALUATION OF CHIMERISM AFTER ALLOGENEIC BMT
Authors: MARTINELLI G TRABETTI E ZACCARIA A FARABEGOLI P BUZZI M TESTONI N CALORI E BANDINI G ROSTI G BELARDINELLI A GASPARINI P GALAVOTTI R AMBROSETTI A TURA S PIGNATTI PF
Citation: G. Martinelli et al., IN-VITRO AMPLIFICATION OF HYPERVARIABLE DNA REGIONS FOR THE EVALUATION OF CHIMERISM AFTER ALLOGENEIC BMT, Bone marrow transplantation, 12(2), 1993, pp. 115-120
MOLECULAR ANALYSIS OF 6 VARIANT PHILADELPHIA-CHROMOSOME TRANSLOCATIONS IN CHRONIC MYELOID-LEUKEMIA
Authors: SESSAREGO M MARTINELLI G CHIAMENTI A DEFFERRARI R FUGAZZA G BRUZZONE R AJMAR F PIGNATTI PF
Citation: M. Sessarego et al., MOLECULAR ANALYSIS OF 6 VARIANT PHILADELPHIA-CHROMOSOME TRANSLOCATIONS IN CHRONIC MYELOID-LEUKEMIA, Cancer genetics and cytogenetics, 67(1), 1993, pp. 50-54
PRENATAL TESTING IN A FETUS AT RISK FOR AUTOSOMAL-DOMINANT POLYCYSTICKIDNEY-DISEASE AND AUTOSOMAL RECESSIVE JUNCTIONAL EPIDERMOLYSIS-BULLOSA WITH PYLORIC ATRESIA
Authors: TURCO AE PEISSEL B ROSSETTI S SELICORNI A MANOUKIAN S BRUSASCO A TADINI G GALIMBERTI A TASSIS B TUROLLA L TENCONI R PIGNATTI PF
Citation: Ae. Turco et al., PRENATAL TESTING IN A FETUS AT RISK FOR AUTOSOMAL-DOMINANT POLYCYSTICKIDNEY-DISEASE AND AUTOSOMAL RECESSIVE JUNCTIONAL EPIDERMOLYSIS-BULLOSA WITH PYLORIC ATRESIA, American journal of medical genetics, 47(8), 1993, pp. 1225-1230
MOLECULAR-GENETIC DIAGNOSIS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE IN A NEWBORN WITH BILATERAL CYSTIC KIDNEYS DETECTED PRENATALLY AND MULTIPLE SKELETAL MALFORMATIONS
Authors: TURCO AE PADOVANI EM CHIAFFONI GP PEISSEL B ROSSETTI S MARCOLONGO A GAMMARO L MASCHIO G PIGNATTI PF
Citation: Ae. Turco et al., MOLECULAR-GENETIC DIAGNOSIS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE IN A NEWBORN WITH BILATERAL CYSTIC KIDNEYS DETECTED PRENATALLY AND MULTIPLE SKELETAL MALFORMATIONS, Journal of Medical Genetics, 30(5), 1993, pp. 419-422
IDENTIFICATION OF ALL CFTR GENE-MUTATIONS IN THE PUEBLOS, A SOUTHWESTNATIVE-AMERICAN INDIAN POPULATION
Authors: FEREC C RAGUENES O KAPLAN G GREBE TA AUDREZET MP MCCLURE M KESSLER D PIGNATTI PF MERCIER B
Citation: C. Ferec et al., IDENTIFICATION OF ALL CFTR GENE-MUTATIONS IN THE PUEBLOS, A SOUTHWESTNATIVE-AMERICAN INDIAN POPULATION, American journal of human genetics, 53(3), 1993, pp. 800-800
CYSTIC-FIBROSIS GENE-MUTATIONS FOUND IN CHRONIC OBSTRUCTIVE PULMONARY-DISEASE PATIENTS
Authors: PIGNATTI PF BOMBIERI C MARIGO C LUISETTI M
Citation: Pf. Pignatti et al., CYSTIC-FIBROSIS GENE-MUTATIONS FOUND IN CHRONIC OBSTRUCTIVE PULMONARY-DISEASE PATIENTS, American journal of human genetics, 53(3), 1993, pp. 1213-1213
ALPORT SYNDROME IN ITALY - A MULTICENTER SCREENING FOR COL4A5 GENE-MUTATIONS
Authors: RENIERI A GALLI L SERI M DEMARCHI M PEISSEL B TURCO A PIGNATTI PF NERI T ZANELLI P SAVI M HAMALAINEN ER PILAJANIEMI T ANTONELLI A BANFI G BASOLO B GIORDANO M COPPO R CHIARULLI G DANESINO C DIPAOLO N FASCIOLO F GUSMANNO R GIANI M GOTTI E IMBASCIATI E LAMA G LAMPERI D LUPO A LAVORATTI G LIVOLTI S MIGLIETTI N MIGNANI G MILETI M MANNO C PALLA R PECORARO C PELLANDA MV PERATONER L RIEGLER P RIZZONI G SASDELLI M SESSA A SCHIAVANO S SCOLARI F TENCONI R
Citation: A. Renieri et al., ALPORT SYNDROME IN ITALY - A MULTICENTER SCREENING FOR COL4A5 GENE-MUTATIONS, American journal of human genetics, 53(3), 1993, pp. 1219-1219
Risultati: 1-25 | 26-50 | 51-69 |