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La ricerca find articoli where authors phrase all words ' Bisceglia, L' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 39 riferimenti
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    1. Crisponi, L; Deiana, M; Loi, A; Chiappe, F; Uda, M; Amati, P; Bisceglia, L; Zelante, L; Nagaraja, R; Porcu, S; Ristaldi, MS; Marzella, R; Rocchi, M; Nicolino, M; Lienhardt-Roussie, A; Nivelon, A; Verloes, A; Schlessinger, D; Gasparini, P; Bonneau, D; Cao, A; Pilia, G
      The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

      NATURE GENETICS
    2. Font, M; Feliubadalo, L; Estivill, X; Nunes, V; Golomb, E; Kreiss, Y; Pras, E; Bisceglia, L; d'Adamo, AP; Zelante, L; Gasparini, P; Bassi, MT; George, AL; Manzoni, M; Riboni, M; Ballabio, A; Borsani, G; Reig, N; Fernandez, E; Zorzano, A; Bertran, J; Palacin, M
      Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria

      HUMAN MOLECULAR GENETICS
    3. de Sanctis, L; Bonetti, G; Bruno, M; De Luca, F; Bisceglia, L; Palacin, M; Dianzani, I; Ponzone, A
      Cystinuria phenotyping by oral lysine and arginine loading

      CLINICAL NEPHROLOGY
    4. Martinelli, M; Scapoli, L; Pezzetti, F; Carinci, F; Carinci, P; Stabellini, G; Bisceglia, L; Gombos, F; Tognon, M
      C677T variant form at the MTHFR gene and CL/P: A risk factor for mothers?

      AMERICAN JOURNAL OF MEDICAL GENETICS
    5. Bisceglia, L; Purroy, J; Jimenez-Vidal, M; d'Adamo, AP; Rousaud, F; Beccia, E; Penza, R; Rizzoni, G; Gallucci, M; Palacin, M; Gasparini, P; Nunes, V; Zelante, L
      Cystinuria type I: Identification of eight new mutations in SLC3A1

      KIDNEY INTERNATIONAL
    6. Melchionda, S; Ahituv, N; Bisceglia, L; Sobe, T; Glaser, F; Rabionet, R; Arbones, ML; Notarangelo, A; Di Iorio, E; Carella, M; Zelante, L; Estivill, X; Avraham, KB; Gasparini, P
      MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

      AMERICAN JOURNAL OF HUMAN GENETICS
    7. Purroy, J; Bisceglia, L; Jaeken, J; Gasparini, P; Palacin, M; Nunes, V
      Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR

      HUMAN MUTATION
    8. Feliubadalo, L; Font, M; Purroy, J; Rousaud, F; Estivill, X; Nunes, V; Golomb, E; Centola, M; Aksentijevich, I; Kreiss, Y; Goldman, B; Pras, M; Kastner, DL; Pras, E; Gasparini, P; Bisceglia, L; Beccia, E; Gallucci, M; de Sanctis, L; Ponzone, A; Rizzoni, GF; Zelante, L; Bassi, MT; George, AL; Manzoni, M; De Grandi, A; Riboni, M; Endsley, JK; Ballabio, A; Borsani, G; Reig, N; Fernandez, E; Estevez, R; Pineda, M; Torrents, D; Camps, M; Lloberas, J; Zorzano, A; Palacin, M
      Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)AT) of rBAT

      NATURE GENETICS
    9. Feliubadalo, L; Bisceglia, L; Font, M; Dello Strologo, L; Beccia, E; Arslan-Kirchner, M; Steinmann, B; Zelante, L; Estivill, X; Zorzano, A; Palacin, M; Gasparini, P; Nunes, V
      Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1

      GENOMICS
    10. GASPARINI P; STANZIALE P; BISCEGLIA L; PRATO G; RESTAGNO G; FORTINA P; BANCHIERI N; ARBUSTINI E; ZELANTE L
      A NEONATAL PILOT SCREENING OF CYSTIC-FIBROSIS IN ITALY BASED ON OLA-PCR TECHNIQUE

      European journal of human genetics
    11. BISCEGLIA L; DAMBROSIO L; PIEMONTESE MR; CARELLA M; AMATI P; BONNEAU D; PILIA G; GASPARINI P; ZELANTE L
      MOLECULAR-GENETICS OF EPHAROPHIMOSIS-PTOSIS-EPICANTHUS-INVERSUS-SYNDROME (BPES) - LOCUS REFINEMENT AND EXCLUSION OF CANDIDATE GENES

      European journal of human genetics
    12. DAGRUMA L; BISCEGLIA L; GASPARINI P; ZELANTE L; IOLASCON A; IOLASCON G; COLAPIETRO F; FURLAN F; BERTOLDO F
      MOLECULAR-GENETICS OF OSTEOPOROSIS IN ITALY

      European journal of human genetics
    13. BISCEGLIA L; DAMBROSIO L; PIEMONTESE MR; CARELLA M; AMATI P; BONNEAU D; PILIA G; GASPARINI P; ZELANTE L
      CELLULAR RETINOL-BINDING PROTEIN-1 (RBP1) - A FREQUENT POLYMORPHISM, REFINED MAP POSITION AND EXCLUSION AS THE BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS-INVERSUS SYNDROME GENE

      Molecular and cellular probes
    14. ANNESE V; PIEPOLI A; ANDRIULLI A; NAPOLITANO G; BISCEGLIA L; ZELANTE L; GASPARINI P
      POLYMORPHISM OF MOTILIN GENE IN PATIENTS WITH CROHNS-DISEASE

      Digestive diseases and sciences
    15. DELLOSTROLOGO L; CARBONARI D; GALLUCCI M; GASPARINI P; BISCEGLIA L; ZELANTE L; ROSAUD F; NUNES V; PALACIN M; RIZZONI G
      INTERFAMILIAL AND INTRAFAMILIAL CLINICAL VARIABILITY IN PATIENTS WITHCYSTINURIA TYPE-I AND IDENTIFIED MUTATION

      Journal of the American Society of Nephrology
    16. PIEMONTESE MR; MEMEO E; CARELLA M; AMATI P; CHOMEL JC; BONNEAU D; PILIA G; CAO A; DRABKIN H; GEMMILL R; ROMMENS J; ZELANTE L; GASPARINI P; BISCEGLIA L
      A YAC CONTIG SPANNING THE BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUSSYNDROME AND PROPIONIC ACIDEMIA LOCI

      European journal of human genetics
    17. RIZZONI G; DELLOSTROLOGO L; GASPARINI P; ZELANTE L; BISCEGLIA L; NUNES V; PALACIN M
      RECENT DATA ON CYSTINURIA

      Annales de pediatrie
    18. CALVANO S; MEMEO E; PIEMONTESE MR; MELCHIONDA S; BISCEGLIA L; GASPARINI P; ZELANTE L
      DETECTION OF DYSTROPHIN DELETION CARRIERS USING FISH ANALYSIS

      Clinical genetics
    19. GIRELLI D; CORROCHER R; BISCEGLIA L; OLIVIERI O; ZELANTE L; PANOZZO G; GASPARINI P
      HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME CAUSED BY A 29-BASE PAIR DELETION IN THE IRON-RESPONSIVE ELEMENT OF FERRITIN L-SUBUNIT GENE

      Blood
    20. 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
      GENETIC HISTORY OF CYSTIC-FIBROSIS MUTATIONS IN ITALY - I - REGIONAL DISTRIBUTION

      Annals of Human Genetics
    21. GASPARINI P; CALVANO S; MEMEO E; BISCEGLIA L; ZELANTE L
      ASSIGNMENT OF FERRITIN L GENE (FTL) TO HUMAN-CHROMOSOME BAND 19Q13.3 BY IN-SITU HYBRIDIZATION

      Annales de genetique
    22. BISCEGLIA L; CALONGE MJ; TOTARO A; FELIUBADALO L; MELCHIONDA S; GARCIA J; TESTAR X; GALLUCCI M; PONZONE A; ZELANTE L; ZORZANO A; ESTIVILL X; GASPARINI P; NUNES V; PALACIN M
      LOCALIZATION, BY LINKAGE ANALYSIS, OF THE CYSTINURIA TYPE-III GENE TOCHROMOSOME 19Q13.1

      American journal of human genetics
    23. PALACIN M; MORA C; CHILLARON J; CALONGE MJ; ESTEVEZ R; TORRENTS D; TESTAR X; ZORZANO A; NUNES V; PURROY J; ESTIVILL X; GASPARINI P; BISCEGLIA L; ZELANTE L
      THE MOLECULAR-BASIS OF CYSTINURIA - THE ROLE OF THE RBAT GENE

      Amino acids
    24. PURROY J; BISCEGLIA L; CALONGE MJ; ZELANTE L; TESTAR X; ZORZANO A; ESTIVILL X; PALACIN M; NUNES V; GASPARINI P
      GENOMIC STRUCTURE AND ORGANIZATION OF THE HUMAN RBAT GENE (SLC3A1)

      Genomics
    25. BISCEGLIA L; CALONGE MJ; DELLOSTROLOGO L; RIZZONI G; DESANCTIS L; GALLUCCI M; BECCIA E; TESTAR X; ZORZANO A; ESTIVILL X; ZELANTE L; PALACIN M; GASPARINI P; NUNES V
      MOLECULAR ANALYSIS OF THE CYSTINURIA DISEASE GENE - IDENTIFICATION OF4 NEW MUTATIONS, ONE LARGE DELETION, AND ONE POLYMORPHISM

      Human genetics
    26. DESANCTIS L; BRUNO M; BONETTI G; COSSEDDU D; BISCEGLIA L; PONZONE A; DIANZANI J
      PHENOTYPE CHARACTERIZATION AND PREVALENCE OF RBAT M467T MUTATION IN ITALIAN CYSTINURIC PATIENTS

      Journal of inherited metabolic disease
    27. PIEPOLI A; BISCEGLIA L; GASPARINI P; ANNESE V; LOMBARDI G; ZELANTE L; ANDRIULLI A
      MOTILIN GENE HETEROGENEITY IN INFLAMMATORY BOWEL-DISEASE

      Gastroenterology
    28. GIRELLI D; CORROCHER R; BISCEGLIA L; OLIVIERI O; ZELANTE L; PANOZZO G; GASPARINI P
      HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME DUE TO A 29 BP DELETION IN THE IRON-RESPONSIVE ELEMENT OF L-FERRITIN GENE

      Blood
    29. GIANNATTASIO S; BISCEGLIA L; LATTANZIO P; GRIFA A; DIANZANI I; GASPARINI P; MARRA E
      MOLECULAR SCREENING OF GENETIC-DEFECTS WITH RNA-SSCP ANALYSIS - THE PKU AND CYSTINURIA MODEL

      Molecular and cellular probes
    30. MARIGO C; BOMBIERI C; BISCEGLIA L; ZELANTE L; GASPARINI P; PIGNATTI PF
      HOMOZYGOSITY FOR A NOVEL SPLICE-SITE MUTATION (2790-2 A-]G) PRECEDINGEXON-15 OF THE CFTR GENE IN A CYSTIC-FIBROSIS PATIENT OF NORTHEAST ITALIAN DESCENT

      Molecular and cellular probes
    31. BONIZZATO A; BISCEGLIA L; MARIGO C; NICOLIS E; BOMBIERI C; CASTELLANI C; BORGO G; ZELANTE L; MASTELLA G; CABRINI G; GASPARINI P; PIGNATTI PF
      ANALYSIS OF THE COMPLETE CODING REGION OF THE CFTR GENE IN A COHORT OF CF PATIENTS FROM NORTH-EASTERN ITALY - IDENTIFICATION OF 90-PERCENT OF THE MUTATIONS

      Human genetics
    32. CIAFRE SA; RINALDI M; GASPARINI P; SERIPA D; BISCEGLIA L; ZELANTE L; FARACE MG; FAZIO VM
      STABILITY AND FUNCTIONAL EFFECTIVENESS OF PHOSPHOROTHIOATE MODIFIED DUPLEX DNA AND SYNTHETIC MINI-GENES

      Nucleic acids research
    33. CALONGE MJ; VOLPINI V; BISCEGLIA L; ROUSAUD F; DESANCTIS L; BECCIA E; ZELANTE L; TESTAR X; ZORZANO A; ESTIVILL X; GASPARINI P; NUNES V; PALACIN M
      GENETIC-HETEROGENEITY IN CYSTINURIA - THE SLC3A1 GENE IS LINKED TO TYPE-I BUT NOT TO TYPE-III CYSTINURIA

      Proceedings of the National Academy of Sciences of the United Statesof America
    34. GIRELLI D; CORROCHER R; BISCEGLIA L; OLIVIERI O; DEFRANCESCHI L; ZELANTE L; GASPARINI P
      MOLECULAR-BASIS FOR THE RECENTLY DESCRIBED HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME - A MUTATION IN THE IRON-RESPONSIVE ELEMENT OF FERRITIN L-SUBUNIT GENE (THE VERONA MUTATION)

      Blood
    35. GIRELLI D; CORROCHER R; OLIVIERI O; BISCEGLIA L; DEFRANCESCHI L; ZELANTE L; GASPARINI P
      A MUTATION IN THE IRON-RESPONSIVE ELEMENT OF FERRITIN L-SUBUNIT GENE IS ASSOCIATED WITH THE RECENTLY DESCRIBED HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME

      Blood
    36. CALONGE MJ; VOLPINI V; BISCEGLIA L; PURROY J; ROUSAUD F; DESANCTIS L; BECCIA E; ZELANTE L; TESTAR X; ZORZANO A; PONZONE A; ESTIVILL X; GASPARINI P; PALACIN M; NUNES V
      GENETIC-HETEROGENEITY IN CYSTINURIA - NEW MUTATIONS AND POLYMORPHISMS

      American journal of human genetics
    37. GASPARINI P; CALONGE MJ; BISCEGLIA L; PURROY J; DIANZANI I; NOTARANGELO A; ROUSAUD F; GALLUCCI M; TESTAR X; PONZONE A; ESTIVILL X; ZORZANO A; PALACIN M; NUNES V; ZELANTE L
      MOLECULAR-GENETICS OF CYSTINURIA - IDENTIFICATION OF 4 NEW MUTATIONS AND 7 POLYMORPHISMS, AND EVIDENCE FOR GENETIC-HETEROGENEITY

      American journal of human genetics
    38. BISCEGLIA L; GRIFA A; ZELANTE L; GASPARINI P
      DEVELOPMENT OF RNA-SSCP PROTOCOLS FOR THE IDENTIFICATION AND SCREENING OF CFTR MUTATIONS - IDENTIFICATION OF 2 NEW MUTATIONS

      Human mutation
    39. GASPARINI P; GRIFA A; SAVASTA S; MERLO I; BISCEGLIA L; TOTARO A; ZELANTE L
      THE MOTILIN GENE - SUBREGIONAL LOCALIZATION, TISSUE EXPRESSION, DNA POLYMORPHISMS AND EXCLUSION AS A CANDIDATE GENE FOR THE HLA-ASSOCIATED IMMOTILE CILIA SYNDROME

      Human genetics


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Documento generato il 15/01/21 alle ore 23:26:06