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    1. Pirulli, D; Puzzer, D; De Fusco, M; Crovella, S; Amoroso, A; Scolari, F; Viola, BF; Maiorca, R; Caridi, G; Savoldi, S; Ghiggeri, G; Casari, G
      Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12

      JOURNAL OF NEPHROLOGY
    2. Casari, G; Rugarli, E
      Molecular basis of inherited spastic paraplegias

      CURRENT OPINION IN GENETICS & DEVELOPMENT
    3. Sessa, M; Galardi, G; Agazzi, E; Casari, G
      Sporadic idiopathic cervical dystonia: exclusion of the DYT1 deletion

      JOURNAL OF NEUROLOGY
    4. Scolari, F; Viola, BF; Prati, E; Ghiggeri, GM; Caridi, G; Amoroso, A; Casari, G; Maiorca, R
      Medullary cystic kidney disease: Past and present

      RARE KIDNEY DISEASES
    5. Ahmad, W; Noci, S; Haque, MFU; Sarno, T; Aridon, P; Ahmad, MM; Amin-ud-din, M; Rafiq, MA; Haque, SU; De Fusco, M; Ballabio, A; Franco, B; Casari, G
      Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family

      AMERICAN JOURNAL OF MEDICAL GENETICS
    6. Casali, C; Bonifati, V; Santorelli, FM; Casari, G; Fortini, D; Patrignani, A; Fabbrini, G; Carrozzo, R; D'Amati, G; Locuratolo, N; Vanacore, N; Damiano, M; Pierallini, A; Pierelli, F; Amabile, GA; Meco, G
      Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a sephardic Jewish family

      NEUROLOGY
    7. McDermott, CJ; Dayaratne, RK; Tomkins, J; Lusher, ME; Lindsey, JC; Johnson, MA; Casari, G; Turnbull, DM; Bushby, K; Shaw, PJ
      Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigreesin northeast England

      NEUROLOGY
    8. Greco, L; Babron, MC; Corazza, GR; Percopo, S; Sica, R; Clot, F; Fulchignoni-Lataud, MC; Zavattari, P; Momigliano-Richiardi, P; Casari, G; Gasparini, P; Tosi, R; Mantovani, V; De Virgiliis, S; Iacono, G; D'Alfonso, A; Selinger-Leneman, H; Lemainque, A; Serre, JL; Clerget-Darpoux, F
      Existence of a genetic risk factor on chromosome 5q in Italian Coeliac Disease families

      ANNALS OF HUMAN GENETICS
    9. De Fusco, M; Becchetti, A; Patrignani, A; Annesi, G; Gambardella, A; Quattrone, A; Ballabio, A; Wanke, E; Casari, G
      The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy

      NATURE GENETICS
    10. Bettinelli, A; Ciarmatori, S; Cesareo, L; Tedeschi, S; Ruffa, G; Appiani, AC; Rosini, A; Grumieri, G; Mercuri, B; Sacco, M; Leozappa, G; Binda, S; Cecconi, M; Navone, C; Curcio, C; Syren, ML; Casari, G
      Phenotypic variability in Bartter syndrome type I

      PEDIATRIC NEPHROLOGY
    11. Coppola, M; Pizzigoni, A; Banfi, S; Bassi, MT; Casari, G; Incerti, B
      Identification and characterization of YME1L1, a novel paraplegin-related gene

      GENOMICS
    12. Russo, S; Cogliati, F; Cavalleri, F; Cassitto, MG; Giglioli, R; Toniolo, D; Casari, G; Larizza, L
      Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: Linkage analysis and clinical findings in a three-generation Sardinian family

      AMERICAN JOURNAL OF MEDICAL GENETICS
    13. Guerrini, R; Parmeggiani, L; Bonanni, P; Carrozzo, R; Casari, G
      Locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16

      NEUROLOGY
    14. Gambardella, A; Annesi, G; De Fusco, M; Patrignani, A; Aguglia, U; Annesi, F; Pasqua, AA; Spadafora, P; Oliveri, RL; Valentino, P; Zappia, M; Ballabio, A; Casari, G; Quattrone, A
      A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps tochromosome 1

      NEUROLOGY
    15. Bettinelli, A; Consonni, D; Bianchetti, MG; Colussi, G; Casari, G
      Aldosterone influences serum magnesium in Gitelman syndrome

      NEPHRON
    16. Ahmad, W; De Fusco, M; ul Haque, MF; Aridon, P; Sarno, T; Sohail, M; ul Haque, S; Ahmad, M; Ballabio, A; Franco, B; Casari, G
      Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity

      EUROPEAN JOURNAL OF HUMAN GENETICS
    17. Banfi, S; Bassi, MT; Andolfi, G; Marchitiello, A; Zanotta, S; Ballabio, A; Casari, G; Franco, B
      Identification and characterization of AFG3L2, a novel paraplegin-related gene

      GENOMICS
    18. Guerrini, R; Bonanni, P; Nardocci, N; Parmeggiani, L; Piccirilli, M; De Fusco, M; Aridon, P; Ballabio, A; Carrozzo, R; Casari, G
      Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12-11.2

      ANNALS OF NEUROLOGY
    19. Piccini, M; Casari, G; Zhou, JH; Bruttini, M; Li Volti, S; Ballabio, A; Renieri, A
      Evidence for genetic heterogeneity in benign familial hematuria

      AMERICAN JOURNAL OF NEPHROLOGY
    20. Bettinelli, A; Rusconi, R; Ciarmatori, S; Righini, V; Zammarchi, E; Donati, MA; Isimbaldi, C; Bevilacqua, M; Cesareo, L; Tedeschi, S; Garavaglia, R; Casari, G
      Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: A new hereditary renal tubular-pituitary syndrome?

      PEDIATRIC RESEARCH
    21. Galbusera, M; Noris, M; Rossi, C; Orisio, S; Caprioli, J; Ruggeri, ZM; Amadei, B; Ruggenenti, P; Vasile, B; Casari, G; Remuzzi, G
      Increased fragmentation of von Willebrand factor, due to abnormal cleavageof the subunit, parallels disease activity in recurrent hemolytic uremic syndrome and thrombotic thrombocytopenic purpura and discloses predisposition in families

      BLOOD
    22. Giordano, M; Bolognesi, E; D'Alfonso, S; Lessi, M; Zavattari, P; Oderda, G; Clot, F; Percopo, S; Casari, G; Greco, L; Tosi, R; Momigliano-Richiardi, P
      Linkage disequilibrium between intra-locus variants in the aminopeptidase n gene and test of their association with coeliac disease

      ANNALS OF HUMAN GENETICS
    23. Scolari, F; Puzzer, D; Amoroso, A; Caridi, G; Ghiggeri, GM; Maiorca, R; Aridon, P; De Fusco, M; Ballabio, A; Casari, G
      Identification of a new locus for medullary cystic disease, on chromosome 16p12

      AMERICAN JOURNAL OF HUMAN GENETICS
    24. TAMAMES J; OUZOUNIS C; CASARI G; SANDER C; VALENCIA A
      EUCLID - AUTOMATIC CLASSIFICATION OF PROTEINS IN FUNCTIONAL CLASSES BY THEIR DATABASE ANNOTATIONS

      BIOINFORMATICS
    25. BETTINELLI A; VEZZOLI G; COLUSSI G; BIANCHETTI MG; SERENI F; CASARI G
      GENOTYPE-PHENOTYPE CORRELATIONS IN NORMOTENSIVE PATIENTS WITH PRIMARYRENAL TUBULAR HYPOKALEMIC METABOLIC ALKALOSIS

      JN. Journal of nephrology
    26. KENYON CJ; PANARELLI M; ZAGATO L; TORIELLI L; HEELEY RP; HOLLOWAY CD; FRASER R; CASARI G; SUTCLIFFE RG; BIANCHI G
      GLUCOCORTICOID RECEPTOR POLYMORPHISM IN GENETIC-HYPERTENSION

      Journal of molecular endocrinology
    27. SCOLARI F; GHIGGERI GM; CASARI G; AMOROSO A; PUZZER D; CARIDI GL; VALZORIO B; TARDANICO R; VIZZARDI V; SAVOLDI S; VIOLA BF; BOSSINI N; PRATI E; GUSMANO R; MAIORCA R
      AUTOSOMAL-DOMINANT MEDULLARY CYSTIC-DISEASE - A DISORDER WITH VARIABLE CLINICAL PICTURES AND EXCLUSION OF LINKAGE WITH THE NPH1 LOCUS

      Nephrology, dialysis, transplantation
    28. FERREIRA F; EBNER C; KRAMER B; CASARI G; BRIZA P; KUNGL AJ; GRIMM R; JAHNSCHMID B; BREITENEDER H; KRAFT D; BREITENBACH M; RHEINBERGER H; SCHEINER O
      MODULATION OF IGE REACTIVITY OF ALLERGENS BY SITE-DIRECTED MUTAGENESIS - POTENTIAL USE OF HYPOALLERGENIC VARIANTS FOR IMMUNOTHERAPY

      The FASEB journal
    29. PRIORI SG; NAPOLITANO C; SCHWARTZ PJ; MARK R; MCDONALDS D; DENJOY I; GUICENEY P; TOWBIN JA; PAGANINI V; CASARI G
      VARIABLE PHENOTYPE OF LONG QT SYNDROME PATIENTS WITH THE SAME GENETIC-DEFECT

      Journal of the American College of Cardiology
    30. WARD RJ; ALVES AR; NETO JR; ARNI RK; CASARI G
      A SEQUENCESPACE ANALYSIS OF LYS49 PHOSPHOLIPASES A(2) - CLUES TOWARDSIDENTIFICATION OF RESIDUES INVOLVED IN A NOVEL MECHANISM OF MEMBRANE DAMAGE AND IN MYOTOXICITY

      Protein engineering (Print)
    31. LODWICK D; ZAGATO L; KAISER MA; TORIELLI L; CASARI G; BIANCHI G; SAMANI NJ
      GENETIC-ANALYSIS OF THE S-A AND NA+ K+-ATPASE ALPHA(1) GENES IN THE MILAN HYPERTENSIVE RAT/

      Journal of hypertension
    32. CASARI G; DEFUSCO M; CIARMATORI S; ZEVIANI M; MORA M; FERNANDEZ P; DEMICHELE G; FILLA A; COCOZZA S; MARCONI R; DURR A; FONTAINE B; BALLABIO A
      SPASTIC PARAPLEGIA AND OXPHOS IMPAIRMENT CAUSED BY MUTATIONS IN PARAPLEGIN, A NUCLEAR-ENCODED MITOCHONDRIAL METALLOPROTEASE

      Cell
    33. THOMAS SL; OFT M; JAKSCHE H; CASARI G; HEGER P; DOBROVNIK M; BEVEC D; HAUBER J
      FUNCTIONAL-ANALYSIS OF THE HUMAN-IMMUNODEFICIENCY-VIRUS TYPE-1 REV PROTEIN OLIGOMERIZATION INTERFACE

      Journal of virology
    34. HEGER P; ROSORIUS O; KOCH C; CASARI G; GRASSMANN R; HAUBER J
      MULTIMER FORMATION IS NOT ESSENTIAL FOR NUCLEAR EXPORT OF HUMAN T-CELL LEUKEMIA-VIRUS TYPE-1 REX TRANSACTIVATOR PROTEIN

      Journal of virology (Print)
    35. ARCA M; CAMPAGNA F; MONTALI A; FLORA L; GADDI A; GALLETTI P; CASARI G; DEVOTO M; DAMBROSIO E; VERNA R
      GENOME-WIDE SEARCH FOR LINKAGE MAPPING OF SUSCEPTIBILITY GENES FOR FAMILIAL COMBINED HYPERLIPIDEMIA (FCHL)

      Atherosclerosis (Amsterdam)
    36. PRIORI SG; SCHWARTZ PJ; NAPOLITANO C; BIANCHI L; DENNIS A; DEFUSCO M; BROWN AM; CASARI G
      A RECESSIVE VARIANT OF THE ROMANO-WARD-LONG-QT-SYNDROME

      Circulation
    37. DEMICHELE G; DEFUSCO M; CAVALCANTI F; FILLA A; MARCONI R; VOLPE G; MONTICELLI A; BALLABIO A; CASARI G; COCOZZA S
      A NEW LOCUS FOR AUTOSOMAL RECESSIVE HEREDITARY SPASTIC PARAPLEGIA MAPS TO CHROMOSOME 16Q24.3

      American journal of human genetics
    38. ANDRADE MA; DARUVAR A; CASARI G; SCHNEIDER R; TERMIER M; SANDER C
      CHARACTERIZATION OF NEW PROTEINS FOUND BY ANALYSIS OF SHORT OPEN READING FRAMES FROM THE FULL YEAST GENOME

      Yeast
    39. PRIORI SG; SCHWARTZ PJ; NAPOLITANO C; MASTROIANNI N; PAGANINI V; CANTU F; LOCATI EH; TOWBIN JA; BALLABIO A; CASARI G
      MOLECULAR ANALYSTS OF THE HERG-GENE IN 48 UNRELATED LONG QT SYNDROME PATIENTS - GENOTYPE PHENOTYPE CORRELATION IN 2 FAMILIES WITH NOVEL MUTATIONS/

      Journal of the American College of Cardiology
    40. ANDRADE MA; CASARI G; SANDER C; VALENCIA A
      CLASSIFICATION OF PROTEIN FAMILIES AND DETECTION OF THE DETERMINANT RESIDUES WITH AN IMPROVED SELF-ORGANIZING MAP

      Biological cybernetics
    41. HEELEY RP; CASARI G; ZAGATO L; TORIELLI L; SUTCLIFFE RG; BIANCHI G; KENYON CJ
      GLUCOCORTICOID RECEPTOR MUTATIONS IN GENETICALLY HYPERTENSIVE RATS - MARKERS OF GLUCOCORTICOID INSENSITIVITY

      Biochemical Society transactions
    42. THOMAS SL; HAUBER J; CASARI G
      PROBING THE STRUCTURE OF THE HIV-1 REV TRANSACTIVATOR PROTEIN BY FUNCTIONAL-ANALYSIS

      Protein engineering
    43. ANDRADE M; CASARI G; DEDARUVAR A; SANDER C; SCHNEIDER R; TAMAMES J; VALENCIA A; OUZOUNIS C
      SEQUENCE-ANALYSIS OF THE METHANOCOCCUS-JANNASCHII GENOME AND THE PREDICTION OF PROTEIN FUNCTION

      Computer applications in the biosciences
    44. CUSI D; BARLASSINA C; AZZANI T; CASARI G; CITTERIO L; DEVOTO M; GLORIOSO N; LANZANI C; MANUNTA P; RIGHETTI M; RIVERA R; STELLA P; TROFFA C; ZAGATO L; BIANCHI G
      POLYMORPHISMS OF ALPHA-ADDUCIN AND SALT SENSITIVITY IN PATIENTS WITH ESSENTIAL-HYPERTENSION

      Lancet
    45. SOMMERGRUBER W; SEIPELT J; FESSL F; SKERN T; LIEBIG HD; CASARI G
      MUTATIONAL ANALYSES SUPPORT A MODEL FOR THE HRV2 2A PROTEINASE

      Virology
    46. TAMAMES J; CASARI G; OUZOUNIS C; VALENCIA A
      CONSERVED CLUSTERS OF FUNCTIONALLY RELATED GENES IN 2 BACTERIAL GENOMES

      Journal of molecular evolution
    47. NAPOLITANO C; PRIORI SG; SCHWARTZ PJ; CANTU F; PAGANINI V; DEFUSCO M; PINNAVAIA A; AQUARO G; CASARI G
      IDENTIFICATION OF A LONG QT SYNDROME MOLECULAR DEFECT IN DRUG-INDUCEDTORSADES-DE-POINTES

      Circulation
    48. NAPOLITANO C; PRIORI SG; SCHWARTZ PJ; TIMOTHY K; PAGANINI V; CANTU F; BLOISI R; DEFUSCO M; SPAZZOLINI C; CASARI G
      IDENTIFICATION OF A MUTATIONAL HOT-SPOT IN HERG-RELATED LONG QT SYNDROME (LQT2) - PHENOTYPIC IMPLICATIONS

      Circulation
    49. PRIORI SG; NAPOLITANO C; SCHWARTZ PJ; PAGANINI V; CASARI G
      MOLECULAR EPIDEMIOLOGY OF THE LONG QT SYNDROME

      Circulation
    50. AHMAD W; FUSCO MD; HAQUE MF; SARNO T; ARIDON P; AHMAD M; ULHAQUE S; SELICORNI A; BEDESCHI C; BALLABIO A; FRANCO B; CASARI G
      MAPPING OF 3 NEW LOCI FOR X-LINKED MENTAL RETARDATIONS

      American journal of human genetics
    51. MASTROIANNI N; DEFUSCO M; BETTINELLI A; BALLABIO A; BASILICO E; COLUSSI G; APPIANI AC; CASARI G
      GITELMAN SYNDROME IS CAUSED BY MUTATIONS IN THE HUMAN NA-CL COTRANSPORTER GENE - MOLECULAR ANALYSIS IN ITALIAN FAMILIES

      Journal of the American Society of Nephrology
    52. AURICCHIO A; CASARI G; STAIANO A; BALLABIO A
      ENDOTHELIN-B RECEPTOR MUTATIONS IN PATIENTS WITH ISOLATED HIRSCHSPRUNG DISEASE FROM A NONINBRED POPULATION

      Human molecular genetics
    53. OUZOUNIS C; CASARI G; VALENCIA A; SANDER C
      NOVELTIES FROM THE COMPLETE GENOME OF MYCOPLASMA-GENITALIUM

      Molecular microbiology
    54. MASTROIANNI N; DEFUSCO M; ZOLLO M; ARRIGO G; ZUFFARDI O; BETTINELLI A; BALLABIO A; CASARI G
      MOLECULAR-CLONING, EXPRESSION PATTERN, AND CHROMOSOMAL LOCALIZATION OF THE HUMAN NA-CL THIAZIDE-SENSITIVE COTRANSPORTER (SLC12A3)

      Genomics
    55. THOMAS DJ; CASARI G; SANDER C
      THE PREDICTION OF PROTEIN CONTACTS FROM MULTIPLE SEQUENCE ALIGNMENTS

      Protein engineering
    56. BARLASSINA C; CITTERIO L; CASARI G; AZZANI T; LANZANI C; ZAGATO L; CERUTTI R; RIGHETTI M; STELLA P; AMAR K; GRILLO P; CUSI D; BIANCHI G
      LINKAGE OF ALPHA-ADDUCIN POLYMORPHISM TO HUMAN ESSENTIAL-HYPERTENSION

      Hypertension
    57. CASARI G; DEDARUVAR A; SANDER C; SCHNEIDER R
      BIOINFORMATICS AND THE DISCOVERY OF GENE-FUNCTION

      Trends in genetics
    58. OUZOUNIS C; CASARI G; SANDER C; TAMAMES J; VALENCIA A
      COMPUTATIONAL COMPARISONS OF MODEL GENOMES

      Trends in biotechnology
    59. HEELEY RP; CASARI G; ZAGATO L; TORIELLI L; SUTCLIFFE RG; BIANCHI G; KENYON CJ
      GLUCOCORTICOID RECEPTOR MUTATIONS IN GENETICALLY HYPERTENSIVE RATS - MARKERS OF GLUCOCORTICOID INSENSITIVITY

      Immunology
    60. AURICCHIO A; BRANCOLINI V; CASARI G; MILLA PJ; SMITH VV; DEVOTO M; BALLABIO A
      LOCUS FOR A NOVEL SYNDROMIC FORM OF NEURONAL INTESTINAL PSEUDOOBSTRUCTION MAPS TO XQ28

      American journal of human genetics
    61. CASARI G; SANDER C; VALENCIA A
      A METHOD TO PREDICT FUNCTIONAL RESIDUES IN PROTEINS

      Nature structural biology
    62. OUZOUNIS C; BORK P; CASARI G; SANDER C
      NEW-PROTEIN FUNCTIONS IN YEAST CHROMOSOME-VIII

      Protein science
    63. BORK P; OUZOUNIS C; CASARI G; SCHNEIDER R; SANDER C; DOLAN M; GILBERT W; GILLEVET PM
      EXPLORING THE MYCOPLASMA-CAPRICOLUM GENOME - A MINIMAL CELL REVEALS ITS PHYSIOLOGY

      Molecular microbiology
    64. TRIPODI G; CASARI G; TISMINETZKY S; BIANCHI G; DEVESCOVI G; MURO A; TUTEJA R; BARALLE FE
      CHARACTERIZATION AND CHROMOSOMAL LOCALIZATION OF THE RAT ALPHA-ADDUCIN-ENCODING AND BETA-ADDUCIN-ENCODING GENES

      Gene
    65. CASARI G; BARLASSINA C; CUSI D; ZAGATO L; MUIRHEAD R; RIGHETTI M; NEMBRI P; AMAR K; GATTI M; MACCIARDI F; BINELLI G; BIANCHI G
      ASSOCIATION OF THE ALPHA-ADDUCIN LOCUS WITH ESSENTIAL-HYPERTENSION

      Hypertension
    66. CASARI G; ANDRADE MA; BORK P; BOYLE J; DARUVAR A; OUZOUNIS C; SCHNEIDER R; TAMAMES J; VALENCIA A; SANDER C
      CHALLENGING TIMES FOR BIOINFORMATICS

      Nature
    67. CAPUTI M; CASARI G; GUENZI S; TAGLIABUE R; SIDOLI A; MELO CA; BARALLE FE
      A NOVEL BIPARTITE SPLICING ENHANCER MODULATES THE DIFFERENTIAL PROCESSING OF THE HUMAN FIBRONECTIN EDA EXON

      Nucleic acids research
    68. SOMMERGRUBER W; CASARI G; FESSL F; SEIPELT J; SKERN T
      THE 2A PROTEINASE OF HUMAN RHINOVIRUS IS A ZINC-CONTAINING ENZYME

      Virology
    69. BIANCHI G; TRIPODI G; CASARI G; SALARDI S; BARBER BR; GARCIA R; LEONI P; TORIELLI L; CUSI D; FERRANDI M; PINNA LA; BARALLE FE; FERRARI P
      2 POINT MUTATIONS WITHIN THE ADDUCIN GENES ARE INVOLVED IN BLOOD-PRESSURE VARIATION

      Proceedings of the National Academy of Sciences of the United Statesof America
    70. AUER M; GREMLICH HU; SEIFERT JM; DALY TJ; PARSLOW TG; CASARI G; GSTACH H
      HELIX-LOOP-HELIX MOTIF IN HIV-1 REV

      Biochemistry
    71. SERVADIO A; CASARI G
      NOVEL RAT CALPASTATIN MESSENGER-RNA VARIANTS

      Biochemistry and molecular biology international
    72. CUSI D; TRIPODI G; CASARI G; ROBBA C; BOLLINI P; MERATI G; BIANCHI G
      GENETICS OF RENAL DAMAGE IN PRIMARY HYPERTENSION

      American journal of kidney diseases


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Documento generato il 07/08/20 alle ore 20:28:49