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La ricerca find articoli where authors phrase all words ' Bassi, MT' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 42 riferimenti
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    1. 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
    2. Bassi, MT; Bergen, AAB; Bitoun, P; Charles, SJ; Clementi, M; Gosselin, R; Hurst, J; Lewis, RA; Lorenz, B; Meitinger, T; Messiaen, L; Ramesar, RS; Ballabio, A; Schiaffino, MV
      Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

      HUMAN GENETICS
    3. Bassi, MT; Gasol, E; Manzoni, M; Pineda, M; Riboni, M; Martin, R; Zorzano, A; Borsani, G; Palacin, M
      Identification and characterisation of human xCT that co-expresses, with 4F2 heavy chain, the amino acid transport activity system x(c)(-)

      PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
    4. d'Addio, M; Pizzigoni, A; Bassi, MT; Baschirotto, C; Valetti, C; Incerti, B; Clementi, M; De Luca, M; Ballabio, A; Schiaffino, MV
      Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1

      HUMAN MOLECULAR GENETICS
    5. Coppola, M; Pizzigoni, A; Banfi, S; Bassi, MT; Casari, G; Incerti, B
      Identification and characterization of YME1L1, a novel paraplegin-related gene

      GENOMICS
    6. Buchner, G; Orfanelli, U; Quaderi, N; Bassi, MT; Andolfi, G; Ballabio, A; Franco, B
      Identification of a new EGF-repeat-containing gene from human Xp22: A candidate for developmental disorders

      GENOMICS
    7. Monti, E; Bassi, MT; Papini, N; Riboni, M; Manzoni, M; Venerando, B; Croci, G; Preti, A; Ballabio, A; Tettamanti, G; Borsani, G
      Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane

      BIOCHEMICAL JOURNAL
    8. Bassi, MT; Manzoni, M; Monti, E; Pizzo, MT; Ballabio, A; Borsani, G
      Cloning of the gene encoding a novel integral membrane protein, mucolipidin - and identification of the two major founder mutations causing mucolipidosis type IV

      AMERICAN JOURNAL OF HUMAN GENETICS
    9. Sperandeo, MP; Bassi, MT; Riboni, M; Parenti, G; Buoninconti, A; Manzoni, M; Incerti, B; Larocca, MR; Di Rocco, M; Strisciuglio, P; Dianzani, I; Parini, R; Candito, M; Endo, F; Ballabio, A; Andria, G; Sebastio, G; Borsani, G
      Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance

      AMERICAN JOURNAL OF HUMAN GENETICS
    10. 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
    11. Schiaffino, MV; d'Addio, M; Alloni, A; Baschirotto, C; Valetti, C; Cortese, K; Puri, C; Bassi, MT; Colla, C; De Luca, M; Tacchetti, C; Ballabio, A
      Ocular albinism: evidence for a defect in an intracellular signal transduction system

      NATURE GENETICS
    12. Borsani, G; Bassi, MT; Sperandeo, MP; De Grandi, A; Buoninconti, A; Riboni, M; Manzoni, M; Incerti, B; Pepe, A; Andria, G; Ballabio, A; Sebastio, G
      SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

      NATURE GENETICS
    13. Buchner, G; Montini, E; Andolfi, G; Quaderi, N; Cainarca, S; Messali, S; Bassi, MT; Ballabio, A; Meroni, G; Franco, B
      MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development

      HUMAN MOLECULAR GENETICS
    14. Bassi, MT; Sperandeo, MP; Incerti, B; Bulfone, A; Pepe, A; Surace, EM; Gattuso, C; De Grandi, A; Buoninconti, A; Riboni, M; Manzoni, M; Andria, G; Ballabio, A; Borsani, G; Sebastio, G
      SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family

      GENOMICS
    15. Buchner, G; Bassi, MT; Andolfi, G; Ballabio, A; Franco, B
      Identification of a novel homolog of the Drosophila staufen protein in thechromosome 8q13-q21.1 region

      GENOMICS
    16. 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
    17. Bassi, MT; Ramesar, RS; Caciotti, B; Winship, IM; De Grandi, A; Riboni, M; Townes, PL; Beighton, P; Ballabio, A; Borsani, G
      X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats

      AMERICAN JOURNAL OF HUMAN GENETICS
    18. Kosaki, K; Bassi, MT; Kosaki, R; Lewin, M; Belmont, J; Schauer, G; Casey, B
      Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development

      AMERICAN JOURNAL OF HUMAN GENETICS
    19. Disteche, CM; Dinulos, MB; Bassi, MT; Elliott, RW; Rugarli, EI
      Mapping of the murine Tbl1 gene reveals a new rearrangement between mouse and human X Chromosomes

      MAMMALIAN GENOME
    20. GEBBIA M; BASSI MT; FERRERO GB; KOSAKI K; CASEY B
      MOLECULAR-GENETICS OF HUMAN LEFT-RIGHT AXIS MALFORMATIONS

      Modern pathology
    21. GEBBIA M; FERRERO GB; PILIA G; BASSI MT; AYLSWORTH AS; PENMANSPLITT M; BIRD LM; BAMFORTH JS; BURN J; SCHLESSINGER D; NELSON DL; CASEY B
      X-LINKED SITUS ABNORMALITIES RESULT FROM MUTATIONS IN ZIC3

      Nature genetics
    22. GEBBIA M; BASSI MT; FERRERO GB; KOSAKI K; CASEY B
      CLINICAL AND MOLECULAR-GENETICS OF HUMAN LEFT-RIGHT AXIS DISORDERS

      Molecular biology of the cell
    23. GEBBIA M; BASSI MT; FERRERO GB; KOSAKI K; CASEY B
      MULTIGENIC MUTATIONS ASSOCIATED WITH COMPLEX HEART MALFORMATIONS AND RELATED SITUS ABNORMALITIES

      The American journal of pathology
    24. BASSI MT; KOSAKI K; BELMONT J; CASEY B
      NODAL, LEFTY, AND HNF-3-BETA NUCLEOTIDE CHANGES ASSOCIATED WITH COMPLEX HEART-DEFECTS AND OTHER FEATURES OF LEFT-RIGHT AXIS MALFORMATIONS

      American journal of human genetics
    25. BASSI MT; INCERTI B; EASTY DJ; SVIDERSKAYA EV; BALLABIO A
      CLONING OF THE MURINE HOMOLOG OF THE OCULAR ALBINISM TYPE-1 (OA1) GENE - SEQUENCE, GENOMIC STRUCTURE, AND EXPRESSION ANALYSIS IN PIGMENT-CELLS

      PCR methods and applications
    26. DINULOS MB; BASSI MT; RUGARLI EI; CHAPMAN V; BALLABIO A; DISTECHE CM
      A NEW REGION OF CONSERVATION IS DEFINED BETWEEN HUMAN AND MOUSE X-CHROMOSOMES

      Genomics
    27. BASSI MT; SCHIAFFINO MV; RENIERI A; DENIGRIS F; GALLI L; BRUTTINI M; GEBBIA M; BERGEN AAB; LEWIS RA; BALLABIO A
      CLONING OF THE GENE FOR OCULAR ALBINISM TYPE-1 FROM THE DISTAL SHORT ARM OF THE X-CHROMOSOME

      Nature genetics
    28. SCHIAFFINO MV; BASSI MT; RUGARLI EI; RENIERI A; GALLI L; BALLABIO A
      CLONING OF A HUMAN HOMOLOG OF THE XENOPUS-LAEVIS APX GENE FROM THE OCULAR ALBINISM TYPE-1 CRITICAL REGION

      Human molecular genetics
    29. SCHIAFFINO MV; BASSI MT; GALLI L; RENIERI A; BRUTTINI M; DENIGRIS F; BERGEN AAB; CHARLES SJ; YATES JRW; MEINDL A; LEWIS RA; KING RA; BALLABIO A
      ANALYSIS OF THE OA1 GENE REVEALS MUTATIONS IN ONLY 1 3 OF PATIENTS WITH X-LINKED OCULAR ALBINISM/

      Human molecular genetics
    30. BASSI MT; SCHIAFFINO MV; RENIERI A; DENIGRIS F; GALLI L; BRUTTINI M; BERGEN AAB; LEWIS RA; YATES J; MEITINGER T; BALLABIO A
      GENOMIC STRUCTURE AND MUTATION ANALYSIS OF THE OCULAR ALBINISM TYPE-1(OA1) GENE

      American journal of human genetics
    31. RENIERI A; BASSI MT; GALLI L; ZHOU J; GIANI M; DEMARCHI M; BALLABIO A
      DELETION SPANNING THE 5' ENDS OF BOTH THE COL4A5 AND COL4A6 GENES IN A PATIENT WITH ALPORTS-SYNDROME AND LEIOMYOMATOSIS

      Human mutation
    32. WAPENAAR MC; SCHIAFFINO MV; BASSI MT; SCHAEFER L; CHINAULT AC; ZOGHBI HY; BALLABIO A
      A YAC-BASED BINNING STRATEGY FACILITATING THE RAPID ASSEMBLY OF COSMID CONTIGS - 1.6-MB OF OVERLAPPING COSMIDS IN XP22

      Human molecular genetics
    33. VANSLEGTENHORST MA; BASSI MT; BORSANI G; WAPENAAR MC; FERRERO GB; DECONCILIIS L; RUGARLI EI; GRILLO A; FRANCO B; ZOGHBI HY; BALLABIO A
      A GENE FROM THE XP22.3 REGION SHARES HOMOLOGY WITH VOLTAGE-GATED CHLORIDE CHANNELS

      Human molecular genetics
    34. BASSI MT; BERGEN AAB; WAPENAAR MC; SCHIAFFINO MV; VANSCHOONEVELD M; YATES JRW; CHARLES SJ; MEITINGER T; BALLABIO A
      A SUBMICROSCOPIC DELETION IN A PATIENT WITH ISOLATED X-LINKED OCULAR ALBINISM (OA1)

      Human molecular genetics
    35. SCHAEFER L; WAPENAAR MC; BASSI MT; FERRERO GB; GRILLO A; ROTH RJ; BALLABIO A; ZOGHBI HY
      CHARACTERIZATION AND CLONING OF THE CRITICAL REGION FOR THE MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME (MLS)

      Journal of cellular biochemistry
    36. WAPENAAR MC; SCHIAFFINO MV; BASSI MT; SCHAEFER L; CHINAULT AC; ZOGHBI HY; BALLABIO A
      AN EFFICIENT YAC-BASED BINNING STRATEGY FOR THE CONSTRUCTION OF MB-SCALE COSMID CONTIGS - 1.6-MB OF OVERLAPPING COSMIDS SPANNING THE OA1 AND MLS GENES IN XP22

      Cytogenetics and cell genetics
    37. SCHAEFER L; FERRERO GB; GRILLO A; BASSI MT; ROTH EJ; WAPENAAR MC; VANOMMEN GJB; MOHANDAS TK; ROCCHI M; ZOGHBI HY; BALLABIO A
      A HIGH-RESOLUTION DELETION MAP OF HUMAN CHROMOSOME-XP22

      Nature genetics
    38. WAPENAAR MC; BASSI MT; SCHAEFER L; GRILLO A; FERRERO GB; CHINAULT AC; BALLABIO A; ZOGHBI HY
      THE GENES FOR X-LINKED OCULAR ALBINISM (OA1) AND MICROPHTHALMIA WITH LINEAR SKIN DEFECTS (MLS) - CLONING AND CHARACTERIZATION OF THE CRITICAL REGIONS

      Human molecular genetics
    39. BALLABIO A; SCHAEFER L; FERRERO GB; GRILLO A; BASSI MT; ROTH EJ; WAPENAAR MC; VANOMMEN GJB; MOHANDAS TK; ROCCHI M; NELSON D; ZOGHBI HY
      A HIGH-RESOLUTION 30-MB DELETION MAP OF THE DISTAL SHORT ARM OF THE HUMAN X-CHROMOSOME

      Cytogenetics and cell genetics
    40. FERRERO GB; SCHAEFER L; GRILLO A; BASSI MT; ROTH EJ; WAPENAAR MC; VANOMMEN GJB; MOHANDAS TK; ROCCHI M; CHINAULT AC; NELSON D; ZOGHBI HY; BALLABIO A
      A HIGH-RESOLUTION 30-MEGABASE DELETION MAP OF THE DISTAL SHORT ARM OFTHE HUMAN X-CHROMOSOME

      American journal of human genetics
    41. WAPENAAR MC; BASSI MT; SCHAEFER L; GRILLO A; FERRERO GB; CHINAULT AC; BALLABIO A; ZOGHBI HY
      THE GENES FOR MICROPHTHALMIA WITH LINEAR SKIN DEFECTS (MLS) AND X-LINKED OCULAR ALBINISM (OA1) - CLONING AND CHARACTERIZATION OF THE CRITICAL REGIONS

      American journal of human genetics
    42. BASSI MT; VANSLEGTENHORST M; RUGARLI E; FRANCO B; BORSANI G; DECONCILIIS L; WAPENAAR M; BALLABIO A
      IDENTIFICATION OF A HUMAN X-LINKED GENE ENCODING A PUTATIVE ION-CHANNEL PROTEIN

      American journal of human genetics


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Documento generato il 15/01/21 alle ore 22:11:35