AAAAAA

   
Results: 1-25 | 26-28
Results: 1-25/28
MISSENSE MUTATIONS IN THE COL4A5 GENE IN PATIENTS WITH X-LINKED ALPORT SYNDROME
Authors: NERI TM ZANELLI P DEPALMA G SAVI M ROSSETTI S TURCO AE PIGNATTI GF GALLI L BRUTTINI M RENIERI A MINGARELLI R TRIVELLI A PINCIAROLI AR RAGAIOLO M RIZZONI GF DEMARCHI M
Citation: Tm. Neri et al., MISSENSE MUTATIONS IN THE COL4A5 GENE IN PATIENTS WITH X-LINKED ALPORT SYNDROME, Human mutation, 1998, pp. 106-109
ULTRASTRUCTURAL AND IMMUNOHISTOCHEMICAL FINDINGS IN ALPORTS-SYNDROME - A STUDY OF 108 PATIENTS FROM 97 ITALIAN FAMILIES WITH PARTICULAR EMPHASIS ON COL4A5 GENE MUTATION CORRELATIONS
Authors: MAZZUCCO G BARSOTTI P MUDA AO FORTUNATO M MIHATSCH M TORRITARELLI L RENIERI A FARAGGIANA T DEMARCHI M MONGA G
Citation: G. Mazzucco et al., ULTRASTRUCTURAL AND IMMUNOHISTOCHEMICAL FINDINGS IN ALPORTS-SYNDROME - A STUDY OF 108 PATIENTS FROM 97 ITALIAN FAMILIES WITH PARTICULAR EMPHASIS ON COL4A5 GENE MUTATION CORRELATIONS, Journal of the American Society of Nephrology, 9(6), 1998, pp. 1023-1031
MOLECULAR CHARACTERIZATION OF IMMUNOGLOBULIN G4 GENE ISOALLOTYPES
Authors: BRUSCO A SAVIOZZI S CINQUE F DEMARCHI M BOCCAZZI C DELANGE G VANLEEUWEN AM CARBONARA AO
Citation: A. Brusco et al., MOLECULAR CHARACTERIZATION OF IMMUNOGLOBULIN G4 GENE ISOALLOTYPES, European journal of immunogenetics, 25(5), 1998, pp. 349-355
RELATIONSHIP BETWEEN IMMUNE STATE AND TUMOR-GROWTH RATE IN RATS BEARING PROGRESSIVE AND NONPROGRESSIVE MAMMARY-TUMORS
Authors: REMEDI MM HLIBA E DEMARCHI M DEPIANTEDEPAOLI M
Citation: Mm. Remedi et al., RELATIONSHIP BETWEEN IMMUNE STATE AND TUMOR-GROWTH RATE IN RATS BEARING PROGRESSIVE AND NONPROGRESSIVE MAMMARY-TUMORS, Cancer immunology and immunotherapy, 46(6), 1998, pp. 350-354
CONFORMATIONAL DYNAMICS OF TRIRADICAL NITROXIDES AS STUDIED BY EPR
Authors: CORVAJA C DEMARCHI M TOFFOLETTI A
Citation: C. Corvaja et al., CONFORMATIONAL DYNAMICS OF TRIRADICAL NITROXIDES AS STUDIED BY EPR, Applied magnetic resonance, 12(1), 1997, pp. 1-14
ALPORT-SYNDROME - IS THERE A GENOTYPE-PHENOTYPE RELATIONSHIP
Authors: TURCO AE RENIERI A DEMARCHI M
Citation: Ae. Turco et al., ALPORT-SYNDROME - IS THERE A GENOTYPE-PHENOTYPE RELATIONSHIP, Nephrology, dialysis, transplantation, 12(8), 1997, pp. 1551-1553
THE G4 GENE IS DUPLICATED IN 44-PERCENT OF HUMAN-IMMUNOGLOBULIN HEAVY-CHAIN CONSTANT-REGION HAPLOTYPES
Authors: BRUSCO A CINQUE F SAVIOZZI S BOCCAZZI C DEMARCHI M CARBONARA AO
Citation: A. Brusco et al., THE G4 GENE IS DUPLICATED IN 44-PERCENT OF HUMAN-IMMUNOGLOBULIN HEAVY-CHAIN CONSTANT-REGION HAPLOTYPES, Human genetics, 100(1), 1997, pp. 84-89
UNEQUAL HOMOLOGOUS CROSSING-OVER RESULTING IN DUPLICATION OF 36 BASE-PAIR WITHIN EXON-47 OF THE COL4A5 GENE IN A FAMILY WITH ALPORT SYNDROME
Authors: HAMALAINEN ER RENIERI A PECORARO C DEMARCHI M PIHLAJANIEMI T
Citation: Er. Hamalainen et al., UNEQUAL HOMOLOGOUS CROSSING-OVER RESULTING IN DUPLICATION OF 36 BASE-PAIR WITHIN EXON-47 OF THE COL4A5 GENE IN A FAMILY WITH ALPORT SYNDROME, Human mutation, 8(3), 1996, pp. 265-269
X-LINKED ALPORT SYNDROME - AN SSCP-BASED MUTATION SURVEY OVER THE ALL51 EXONS OF COL4A5 GENE
Authors: RENIERI A BRUTTINI M GALLI L ZANELL P NERI T ROSSETTI S TURCO A BANFI G BIZZARRI D BRUNO A CECCONI M CHIARINOTTI D CONTI M COPPO R CORRERA A DANESINO C FASCIOLO F GIANI M GUSMANO R GOTTI E LAMA G IMBASCIATI E LAVORATTI G LUPO A MANNO C MASSARA C MASSELLA L VOLTI L LISI L MERONI M MILETI M MIGLIETTI N MIGNANI R PENZA R SESSA A SCOLARI F PECORARO C PELLANDA MV PERATONER L PIETRUCCI A PINCIAROLI AR",RAGAIOLO,"RIEGLER P RIZZONI G ROSSIN GA COSSU M SERNIA O BALLABIO A DEMARCHI M
Citation: A. Renieri et al., X-LINKED ALPORT SYNDROME - AN SSCP-BASED MUTATION SURVEY OVER THE ALL51 EXONS OF COL4A5 GENE, Kidney international, 50(5), 1996, pp. 1813-1813
TESTING A MODEL OF TECHNOLOGICAL TRAJECTORIES
Authors: DEMARCHI M NAPOLITANO G TACCINI P
Citation: M. Demarchi et al., TESTING A MODEL OF TECHNOLOGICAL TRAJECTORIES, Research policy, 25(1), 1996, pp. 13-23
X-LINKED ALPORT-SYNDROME - AN SSCP-BASED MUTATION SURVEY OVER ALL 51 EXONS OF THE COL4A5 GENE
Authors: RENIERI A BRUTTINI M GALLI L ZANELLI P NERI T ROSSETTI S TURCO A HEISKARI N ZHOU J GUSMANO R MASSELLA L BANFI G SCOLARI F SESSA A RIZZONI G TRYGGVASON K PIGNATTI PF SAVI M BALLABIO A DEMARCHI M
Citation: A. Renieri et al., X-LINKED ALPORT-SYNDROME - AN SSCP-BASED MUTATION SURVEY OVER ALL 51 EXONS OF THE COL4A5 GENE, American journal of human genetics, 58(6), 1996, pp. 1192-1204
ALPORT SYNDROME - NEW GENETIC PERSPECTIVE S ON CLINICAL AND HISTOLOGICAL DIAGNOSIS
Authors: MASSELLA L DENIGRIS A FARAGGIANA T DEBLASIIS R BARSOTTI P RENIERI A NERI T TURCO AE DEMARCHI M RIZZONI G
Citation: L. Massella et al., ALPORT SYNDROME - NEW GENETIC PERSPECTIVE S ON CLINICAL AND HISTOLOGICAL DIAGNOSIS, Rivista italiana di pediatria, 21, 1995, pp. 80-85
MAJOR COL4A5 GENE REARRANGEMENTS IN PATIENTS WITH JUVENILE TYPE ALPORT SYNDROME
Authors: RENIERI A GALLI L GRILLO A BRUTTINI M NERI T ZANELLI P RIZZONI G MASSELLA L SESSA A MERONI M PERATONER L RIEGLER P SCOLARI F MILETI M GIANI M COSSU M SAVI M BALLABIO A DEMARCHI M
Citation: A. Renieri et al., MAJOR COL4A5 GENE REARRANGEMENTS IN PATIENTS WITH JUVENILE TYPE ALPORT SYNDROME, American journal of medical genetics, 59(3), 1995, pp. 380-385
CAN ASYMPTOMATIC WOMEN CARRIERS OF THE ALPORT SYNDROME GENE BE ACCEPTED AS LIVING KIDNEY DONORS
Authors: PIETRUCCI A MERONI M CAROZZI S TAZZARI S TARELLI LT GIORDANO F RENIERI A DEMARCHI M VALENTE U SESSA A
Citation: A. Pietrucci et al., CAN ASYMPTOMATIC WOMEN CARRIERS OF THE ALPORT SYNDROME GENE BE ACCEPTED AS LIVING KIDNEY DONORS, Kidney international, 47(1), 1995, pp. 371-371
RENAL-TRANSPLANTATION FROM LIVING DONOR PARENTS IN 2 BROTHERS WITH ALPORT SYNDROME - CAN ASYMPTOMATIC FEMALE CARRIERS OF THE ALPORT GENE BEACCEPTED AS KIDNEY DONORS
Authors: SESSA A PIETRUCCI A CAROZZI S TARELLI LT TAZZARI S GIORDANO F MERONI M BATTINI G VALENTE U RENIERI A DEMARCHI M
Citation: A. Sessa et al., RENAL-TRANSPLANTATION FROM LIVING DONOR PARENTS IN 2 BROTHERS WITH ALPORT SYNDROME - CAN ASYMPTOMATIC FEMALE CARRIERS OF THE ALPORT GENE BEACCEPTED AS KIDNEY DONORS, Nephron, 70(1), 1995, pp. 106-109
A NOVEL MISSENSE MUTATION IN EXON-3 OF THE COL4A5 GENE ASSOCIATED WITH LATE-ONSET ALPORT SYNDROME
Authors: TURCO AE ROSSETTI S BIASI MO RIZZONI G MASSELLA L SAARINEN NH RENIERI A PIGNATTI PF DEMARCHI M
Citation: Ae. Turco et al., A NOVEL MISSENSE MUTATION IN EXON-3 OF THE COL4A5 GENE ASSOCIATED WITH LATE-ONSET ALPORT SYNDROME, Clinical genetics, 48(5), 1995, pp. 261-263
MUTATION SCANNING OF THE ENTIRE COL4A5 CODING SEQUENCE IN ALPORT SYNDROME AND GENOTYPE-PHENOTYPE CORRELATION
Authors: RENIERI A BRUTTINI M GALLI L NERI T ZANELLI P TURCO A ROSSETTI S MERONI M SESSA A MASSELLA L RIZZONI G PIGNATTI GF SAVI M BALLABIO A DEMARCHI M
Citation: A. Renieri et al., MUTATION SCANNING OF THE ENTIRE COL4A5 CODING SEQUENCE IN ALPORT SYNDROME AND GENOTYPE-PHENOTYPE CORRELATION, American journal of human genetics, 57(4), 1995, pp. 35-35
DELETION SPANNING THE 5' ENDS OF BOTH THE COL4A5 AND COL4A6 GENES IN A PATIENT WITH ALPORTS-SYNDROME AND LEIOMYOMATOSIS
Authors: RENIERI A BASSI MT GALLI L ZHOU J GIANI M DEMARCHI M BALLABIO A
Citation: A. Renieri et al., DELETION SPANNING THE 5' ENDS OF BOTH THE COL4A5 AND COL4A6 GENES IN A PATIENT WITH ALPORTS-SYNDROME AND LEIOMYOMATOSIS, Human mutation, 4(3), 1994, pp. 195-198
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
CLINICAL AND MORPHOLOGICAL FEATURES OF 25 FAMILIES WITH ALPORT SYNDROME (AS) IN WHICH A COL-4A5 GENE MUTATION WAS IDENTIFIED
Authors: MASSELLA L MAZZUCCO G BARSOTTI P FARAGGIANA T RENIERI A DENIGRIS A GALLI L SERI M NERI T TURCO A MERONI M SESSA A DEMARCHI M MONGA G RIZZONI G
Citation: L. Massella et al., CLINICAL AND MORPHOLOGICAL FEATURES OF 25 FAMILIES WITH ALPORT SYNDROME (AS) IN WHICH A COL-4A5 GENE MUTATION WAS IDENTIFIED, Journal of the American Society of Nephrology, 5(3), 1994, pp. 649-649
A BG II POLYMORPHISM IN THE COL4A6 GENE
Authors: RENIERI A GALLI L ZHOU J BALLABIO A DEMARCHI M
Citation: A. Renieri et al., A BG II POLYMORPHISM IN THE COL4A6 GENE, Human molecular genetics, 3(10), 1994, pp. 1914-1914
SINGLE-BASE PAIR DELETIONS IN EXONS 39 AND 42 OF THE COL4A5 GENE IN ALPORT SYNDROME
Authors: RENIERI A GALLI L DEMARCHI M VOLTI SL MOLLICA F LUPO A MASCHIO G PEISSEL B ROSSETTI S PIGNATTI P TURCO AE
Citation: A. Renieri et al., SINGLE-BASE PAIR DELETIONS IN EXONS 39 AND 42 OF THE COL4A5 GENE IN ALPORT SYNDROME, Human molecular genetics, 3(1), 1994, pp. 201-202
DE-NOVO COL4A5 GENE-MUTATIONS IN ALPORTS-SYNDROME
Authors: MASSELLA L RIZZONI G DEBLASIS R BARSOTTI P FARAGGIANA T RENIERI A SERI M GALLI L DEMARCHI M
Citation: L. Massella et al., DE-NOVO COL4A5 GENE-MUTATIONS IN ALPORTS-SYNDROME, Nephrology, dialysis, transplantation, 9(10), 1994, pp. 1408-1411
VARIABILITY OF CLINICAL PHENOTYPE IN A LARGE ALPORT FAMILY WITH GLY-1143-SER CHANGE OF COLLAGEN ALPHA-5(IV)-CHAIN
Authors: RENIERI A MERONI M SESSA A BATTINI G SERBELLONI P TARELLI LT SERI M GALLI L DEMARCHI M
Citation: A. Renieri et al., VARIABILITY OF CLINICAL PHENOTYPE IN A LARGE ALPORT FAMILY WITH GLY-1143-SER CHANGE OF COLLAGEN ALPHA-5(IV)-CHAIN, Nephron, 67(4), 1994, pp. 444-449
SMALL FRAMESHIFT DELETIONS WITHIN THE COL4A5 GENE IN JUVENILE-ONSET ALPORT SYNDROME
Authors: RENIERI A SERI M GALLI L COSCI P IMBASCIATI E MASSELLA L RIZZONI G RESTAGNO G CARBONARA AO STRAMIGNONI E BASOLO B PICCOLI G DEMARCHI M
Citation: A. Renieri et al., SMALL FRAMESHIFT DELETIONS WITHIN THE COL4A5 GENE IN JUVENILE-ONSET ALPORT SYNDROME, Human genetics, 92(4), 1993, pp. 417-420
Risultati: 1-25 | 26-28