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    1. 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
      MISSENSE MUTATIONS IN THE COL4A5 GENE IN PATIENTS WITH X-LINKED ALPORT SYNDROME

      Human mutation
    2. TORRA R; BADENAS C; PERAL B; DARNELL A; SERRA E; GAMBLE V; TURCO AE; HARRIS PC; ESTIVILL X
      RECURRENCE OF THE PKD1 NONSENSE MUTATION Q4041X IN SPANISH, ITALIAN, AND BRITISH FAMILIES

      Human mutation
    3. NOMURA H; TURCO AE; PEI Y; KALAYDJIEVA L; SCHIAVELLO T; WEREMOWICZ S; JI WZ; MORTON CC; MEISLER M; REEDERS ST; ZHOU J
      IDENTIFICATION OF PKDL, A NOVEL POLYCYSTIC KIDNEY-DISEASE 2-LIKE GENEWHOSE MURINE HOMOLOG IS DELETED IN MICE WITH KIDNEY AND RETINAL DEFECTS

      The Journal of biological chemistry
    4. SESSA A; GHIGGERI GM; TURCO AE
      AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE - CLINICAL AND GENETIC-ASPECTS

      JN. Journal of nephrology
    5. TURCO AE; ROSSETTI S; BRESIN E; ENGLISCH S; CORRA S; PIGNATTI PF
      3 NOVEL MUTATIONS OF THE PKD1 GENE IN ITALIAN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE

      Human mutation
    6. OLDRIZZI L; MARCANTONI C; TURCO AE; GAMMARO L; PIGNATTI PF; MASCHIO G
      ACE GENOTYPE IN ADPKD-1 - A MARKER FOR A FASTER PROGRESSION TO END-STAGE RENAL-FAILURE (ESRF)

      Journal of the American Society of Nephrology
    7. TURCO AE; BRESIN E; SOLI F; ROSSETTI S; GAMMARO L; OLDRIZZI L; MASCHIO G; PIGNATTI PF; TESSITORE N
      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. TURCO AE; RENIERI A; DEMARCHI M
      ALPORT-SYNDROME - IS THERE A GENOTYPE-PHENOTYPE RELATIONSHIP

      Nephrology, dialysis, transplantation
    9. ROSSETTI S; ENGLISCH S; BRESIN E; PIGNATTI PF; TURCO AE
      DETECTION OF MUTATIONS IN HUMAN GENES BY A NEW RAPID METHOD - CLEAVAGE FRAGMENT LENGTH POLYMORPHISM ANALYSIS (CFLPA)

      Molecular and cellular probes
    10. TURCO AE; BRESIN E; ROSSETTI S; PETERLIN B; MORANDI R; PIGNATTI PF
      RAPID DNA-BASED PRENATAL-DIAGNOSIS BY GENETIC-LINKAGE IN 3 FAMILIES WITH ALPORTS-SYNDROME

      American journal of kidney diseases
    11. TURCO AE; BRESIN E; SOLI F; ROSSETTI S; GAMMARO L; MASCHIO G; PIGNATTI PF
      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
    12. ROSSATO M; RIGOTTI M; GRAZIA M; TURCO AE; BONOMI L
      CONGENITAL HYPERTROPHY OF THE RETINAL-PIGMENT EPITHELIUM (CHRPE) AND FAMILIAL ADENOMATOUS POLYPOSIS (FAP)

      Acta ophthalmologica Scandinavica
    13. TORRA R; BADENAS C; PERAL B; DARNELL A; GAMBLE V; TURCO AE; HARRIS PC; ESTIVILL X
      RECURRENCE OF THE PKD1 NONSENSE MUTATION Q4041X IN SPANISH, ITALIAN AND BRITISH FAMILIES

      Journal of the American Society of Nephrology
    14. TURCO AE; ROSSETTI S; BRESIN E; CORRA S; RESTAGNO G; CARBONARA A; DEPRISCO O; GAMMARO L; MASCHIO G; PIGNATTI PF
      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
    15. BRESIN E; ROSSETTI S; ENGLISCH S; CORRA S; PIGNATTI PF; TURCO AE
      A COMMON POLYMORPHISM IN EXON-46 OF THE HUMAN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE-1 GENE (PKD1)

      Molecular and cellular probes
    16. TURCO AE; CLEMENTI M; ROSSETTI S; TENCONI R; PIGNATTI PF
      AN ITALIAN FAMILY WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE UNLINKED TO EITHER THE PKD1 OR PKD2 GENE

      American journal of kidney diseases
    17. ROSSETTI S; BRESIN E; RESTAGNO G; CARBONARA A; CORRA S; DEPRISCO O; PIGNATTI PF; TURCO AE
      AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN AN ITALIAN FAMILY CARRYING A NOVEL NONSENSE MUTATION AND 2 MISSENSE CHANGES IN EXON-44 AND EXON-45 OF THE PKD1 GENE

      American journal of medical genetics
    18. TURCO AE; ROSSETTI S; BRESIN E; CORRA S; GAMMARO L; MASCHIO G; PIGNATTI PF
      A NOVEL NONSENSE MUTATION IN THE PKD1 GENE (C3817T) IS ASSOCIATED WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN A LARGE 3-GENERATION ITALIAN FAMILY

      Human molecular genetics
    19. ROSSETTI S; CORRA S; BIASI MO; TURCO AE; PIGNATTI PF
      COMPARISON OF HETERODUPLEX AND SINGLE-STRAND CONFORMATION ANALYSES, FOLLOWED BY ETHIDIUM FLUORESCENCE VISUALIZATION, FOR THE DETECTION OF MUTATIONS IN 4 HUMAN GENES

      Molecular and cellular probes
    20. MASSELLA L; DENIGRIS A; FARAGGIANA T; DEBLASIIS R; BARSOTTI P; RENIERI A; NERI T; TURCO AE; DEMARCHI M; RIZZONI G
      ALPORT SYNDROME - NEW GENETIC PERSPECTIVE S ON CLINICAL AND HISTOLOGICAL DIAGNOSIS

      Rivista italiana di pediatria
    21. TURCO AE; PADOVANI EM; PEISSEL B; CHIAFFONI GP; ROSSETTI S; GAMMARO L; MASCHIO G; PIGNATTI PF
      GENE LINKAGE ANALYSIS AND DNA-BASED DETECTION OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN A NEWBORN-INFANT - CASE-REPORT

      Journal of perinatal medicine
    22. TURCO AE; ROSSETTI S; BRESIN E; CORRA S
      ERRONEOUS GENETIC RISK ASSESSMENT OF ALPORT SYNDROME

      Lancet
    23. TURCO AE; ROSSETTI S; BIASI MO; RIZZONI G; MASSELLA L; SAARINEN NH; RENIERI A; PIGNATTI PF; DEMARCHI M
      A NOVEL MISSENSE MUTATION IN EXON-3 OF THE COL4A5 GENE ASSOCIATED WITH LATE-ONSET ALPORT SYNDROME

      Clinical genetics
    24. TURCO AE; ROSSETTI S; BRESIN E; RESTAGNO G; CARBONARA A; GAMMARO L; MASCHIO G; PIGNATTI PF
      NOVEL NONSENSE MUTATIONS IN THE PKD1 GENE IN ITALIAN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD)

      American journal of human genetics
    25. TURCO AE; PEISSEL B; ROSSETTI S; PIGNATTI PF
      RAPID DNA-BASED PRENATAL-DIAGNOSIS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE

      Archives of pediatrics & adolescent medicine
    26. PEISSEL B; ROSSETTI S; RENIERI A; GALLI L; DEMARCHI M; BATTINI G; MERONI M; SESSA A; SCHIAVANO S; PIGNATTI PF; TURCO AE
      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
    27. RENIERI A; GALLI L; DEMARCHI M; VOLTI SL; MOLLICA F; LUPO A; MASCHIO G; PEISSEL B; ROSSETTI S; PIGNATTI P; TURCO AE
      SINGLE-BASE PAIR DELETIONS IN EXONS 39 AND 42 OF THE COL4A5 GENE IN ALPORT SYNDROME

      Human molecular genetics
    28. TURCO AE; PEISSEL B; ROSSETTI S; PIGNATTI PF; PADOVANI EM; CHIAFFONI GP
      SKELETAL MALFORMATIONS AND POLYCYSTIC KIDNEY-DISEASE

      Journal of Medical Genetics
    29. TURCO AE; PEISSEL B; ROSSETTI S; SELICORNI A; MANOUKIAN S; BRUSASCO A; TADINI G; GALIMBERTI A; TASSIS B; TUROLLA L; TENCONI R; PIGNATTI PF
      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
    30. TURCO AE; PADOVANI EM; CHIAFFONI GP; PEISSEL B; ROSSETTI S; MARCOLONGO A; GAMMARO L; MASCHIO G; PIGNATTI PF
      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


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/10/20 alle ore 06:37:53