Catalogo Articoli (Spogli Riviste)

HELP
ATTENZIONE: attualmente gli articoli Current Contents (fonte ISI) a partire dall'anno 2002 sono consultabili sulla Risorsa On-Line

Le informazioni sugli articoli di fonte ISI sono coperte da copyright

La ricerca find articoli where authors phrase all words ' BALLABIO A' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 177 riferimenti
Si mostrano 100 riferimenti a partire da 1
Selezionare un intervallo

Per ulteriori informazioni selezionare i riferimenti di interesse.

    1. Cairo, S; Merla, G; Urbinati, F; Ballabio, A; Reymond, A
      WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, isa new member of the Mlx transcription factor network

      HUMAN MOLECULAR 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. Hastie, N; Ballabio, A; Miller, A
      Genetics of disease - Editorial overview

      CURRENT OPINION IN GENETICS & DEVELOPMENT
    4. Forus, A; D'Angelo, A; Henriksen, J; Merla, G; Maelandsmo, GM; Florenes, VA; Olivieri, S; Bjerkehagen, B; Meza-Zepeda, LA; Blanco, FD; Muller, C; Sanvito, F; Kononen, J; Nesland, JM; Fodstad, O; Reymond, A; Kallioniemi, OP; Arrigoni, G; Ballabio, A; Myklebost, O; Zollo, M
      Amplification and overexpression of PRUNE in human sarcomas and breast carcinomas - a possible mechanism for altering the nm23-H1 activity

      ONCOGENE
    5. 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
    6. Reymond, A; Meroni, G; Fantozzi, A; Merla, G; Cairo, S; Luzi, L; Riganelli, D; Zanaria, E; Messali, S; Cainarca, S; Guffanti, A; Minucci, S; Pelicci, PG; Ballabio, A
      The tripartite motif family identifies cell compartments

      EMBO JOURNAL
    7. 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
    8. Kayserili, H; Cox, TC; Cox, LL; Basaran, S; Kilic, G; Ballabio, A; Yuksel-Apak, M
      Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS)

      JOURNAL OF MEDICAL GENETICS
    9. Ferrante, MI; Giorgio, G; Feather, SA; Bulfone, A; Wright, V; Ghiani, M; Selicorni, A; Gammaro, L; Scolari, F; Woolf, AS; Sylvie, O; Bernard, LM; Malcolm, S; Winter, R; Ballabio, A; Franco, B
      Identification of the gene for oral-facial-digital type I syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    10. 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
    11. Bulfone, A; Menguzzato, E; Broccoli, V; Marchitiello, A; Gattuso, C; Mariani, M; Consalez, GG; Martinez, S; Ballabio, A; Banfi, S
      Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS

      HUMAN MOLECULAR GENETICS
    12. 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
    13. Incerti, B; Cortese, K; Pizzigoni, A; Surace, EM; Varani, S; Coppola, M; Jeffery, G; Seeliger, M; Jaissle, G; Bennett, DC; Marigo, V; Schiaffino, MV; Tacchetti, C; Ballabio, A
      Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1

      HUMAN MOLECULAR GENETICS
    14. Meroni, G; Cairo, S; Merla, G; Messali, S; Brent, R; Ballabio, A; Reymond, A
      Mlx, a new Max-Like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway?

      ONCOGENE
    15. Buchner, G; Broccoli, V; Bulfone, A; Orfanelli, U; Gattuso, C; Ballabio, A; Franco, B
      MAEG, an EGF-repeat containing gene, is a new marker associated with dermatome specification and morphogenesis of its derivatives

      MECHANISMS OF DEVELOPMENT
    16. 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
    17. 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
    18. Surace, EM; Angeletti, B; Ballabio, A; Marigo, V
      Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    19. 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
    20. 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
    21. Fukami, M; Kirsch, S; Schiller, S; Richter, A; Benes, V; Franco, B; Muroya, K; Rao, E; Merker, S; Niesler, B; Ballabio, A; Ansorge, W; Ogata, T; Rappold, GA
      A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation

      AMERICAN JOURNAL OF HUMAN GENETICS
    22. 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
    23. Lavorgna, G; Guffanti, A; Borsani, G; Ballabio, A; Boncinelli, E
      TargetFinder: searching annotated sequence databases for target genes of transcription factors

      BIOINFORMATICS
    24. 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
    25. 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
    26. 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
    27. 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
    28. Cainarca, S; Messali, S; Ballabio, A; Meroni, G
      Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle

      HUMAN MOLECULAR GENETICS
    29. 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
    30. Borsani, G; DeGrandi, A; Ballabio, A; Bulfone, A; Bernard, L; Banfi, S; Gattuso, C; Mariani, M; Dixon, M; Donnai, D; Metcalfe, K; Winter, R; Robertson, M; Axton, R; Brown, A; van Heyningen, V; Hanson, I
      EYA4, a novel vertebrate gene related to Drosophila eyes absent

      HUMAN MOLECULAR GENETICS
    31. Monti, E; Preti, A; Nesti, C; Ballabio, A; Borsani, G
      Expression of a novel human sialidase encoded by the NEU2 gene

      GLYCOBIOLOGY
    32. Reymond, A; Volorio, S; Merla, G; Al-Maghtheh, M; Zuffardi, O; Bulfone, A; Ballabio, A; Zollo, M
      Evidence for interaction between human PRUNE and nm23-H1 NDPKinase

      ONCOGENE
    33. Bulfone, A; Martinez, S; Marigo, V; Campanella, M; Basile, A; Quaderi, N; Gattuso, C; Rubenstein, JLR; Ballabio, A
      Expression pattern of the Tbr2 (Eomesodermin) gene during mouse and chick brain development

      MECHANISMS OF DEVELOPMENT
    34. 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
    35. 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
    36. 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
    37. Prakash, SK; Van den Veyver, IB; Franco, B; Volta, M; Ballabio, A; Zoghbi, HY
      Characterization of a novel chromo domain gene in Xp22.3 with homology to Drosophila msl-3

      GENOMICS
    38. Montini, E; Buchner, G; Spalluto, C; Andolfi, G; Caruso, A; den Dunnen, JT; Trump, D; Rocchi, M; Ballabio, A; Franco, B
      Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22

      GENOMICS
    39. Monti, E; Preti, A; Rossi, E; Ballabio, A; Borsani, G
      Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases

      GENOMICS
    40. Volta, M; Bulfone, A; Gattuso, C; Rossi, E; Mariani, M; Consalez, GG; Zuffardi, O; Ballabio, A; Banfi, S; Franco, B
      Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene

      GENOMICS
    41. 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
    42. Fogli, A; Guerrini, R; Moro, F; Fernandez-Alvarez, E; Livet, MO; Renieri, A; Cioni, M; Pilz, DT; Veggiotti, P; Rossi, E; Ballabio, A; Carrozzo, R
      Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly.

      ANNALS OF NEUROLOGY
    43. 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
    44. Barbieri, AM; Lupo, G; Bulfone, A; Andreazzoli, M; Mariani, M; Fougerousse, F; Consalez, GG; Borsani, G; Beckmann, JS; Barsacchi, G; Ballabio, A; Banfi, S
      A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    45. 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
    46. 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
    47. Auricchio, A; Griseri, P; Carpentieri, ML; Betsos, N; Staiano, A; Tozzi, A; Priolo, M; Thompson, H; Bocciardi, R; Romeo, G; Ballabio, A; Ceccherini, I
      Double heterozygosity for a RET substitution interfering with splicing andan EDNRB missense mutation in Hirschsprung disease

      AMERICAN JOURNAL OF HUMAN GENETICS
    48. Segal, Y; Peissel, B; Renieri, A; de Marchi, M; Ballabio, A; Pei, Y; Zhou, J
      LINE-1 elements at the sites of molecular rearrangements in Alport syndrome - Diffuse leiomyomatosis

      AMERICAN JOURNAL OF HUMAN GENETICS
    49. Ballabio, A; Brown, S; Fisher, E
      Strategies for gene discovery in mammalian systems

      GENOME ANALYSIS: A LABORATORY MANUAL, VOL 2, DETECTING GENES
    50. Volorio, S; Simon, G; Repetto, M; Cucciardi, M; Banfi, S; Borsani, G; Ballabio, A; Zollo, M
      Sequencing analysis of forty-eight human image cDNA clones similar to Drosophila mutant protein

      DNA SEQUENCE
    51. COX TC; COX LL; BALLABIO A
      A VERY HIGH-DENSITY MICROSATELLITE MAP (1 STR 41 KB) OF 1.7 MB ON XP22 SPANNING THE MICROPHTHALMIA WITH LINEAR SKIN DEFECTS (MLS) SYNDROME CRITICAL REGION

      European journal of human genetics
    52. BORSANI G; DEGRANDI A; BROWN A; BANFI S; BULFONE A; BERNARD L; CONSALEZ G; DIXON M; DONNAI M; WINTER R; BALLABIO A; VANHEYNINGEN; HANSON I
      IDENTIFICATION AND CHARACTERIZATION OF EYA4, A NOVEL MAMMALIAN HOMOLOG OF THE DROSOPHILA-MELANOGASTER EYES ABSENT GENE

      European journal of human genetics
    53. BULFONE A; GATTUSO C; BANFI S; BORSANI G; BALLABIO A
      SYSTEMATIC CHARACTERIZATION BY IN-SITU HYBRIDIZATION OF THE EMBRYONICEXPRESSION PATTERNS OF MURINE CDNAS HOMOLOGOUS TO DROSOPHILA MUTANT-GENES (DROSOPHILA-RELATED EXPRESSED SEQUENCE)

      European journal of human genetics
    54. RUGARLI E; DALZOTTO L; QUADERI N; ELLIOTT R; LINGERFELTER PA; CARREL L; THOMAS S; WILLARD H; DISTECHE C; BALLABIO A
      CHARACTERIZATION OF THE MURINE MID1 GENE - IMPLICATIONS FOR THE PATHOGENESIS OF OPITZ-SYNDROME AND THE EVOLUTION OF THE MAMMALIAN PSEUDOAUTOSOMAL REGION

      European journal of human genetics
    55. BARBIERI AM; BULFONE A; MARCHITIELLO A; MUNIER F; BITOUN P; SCHORDERET DF; BORSANI G; BALLABIO A; BANFI S
      DRES93, A NOVEL HOMEODOMAIN-CONTAINING CDNA SELECTIVELY EXPRESSED IN THE DEVELOPING RETINA IS A CANDIDATE FOR HUMAN EYE MALFORMATIONS

      European journal of human genetics
    56. MONTI E; ROSSI E; PRETI A; BALLABIO A; BORSANI G
      CLONING OF NEU2, A NOVEL HUMAN GENE ENCODING A SIALIDASE

      European journal of human genetics
    57. VOLTA M; BULFONE A; ROSSI E; MARIANI M; CONSALES G; ZUFFARDI O; BALLABIO A; BANFI S; FRANCO B
      IDENTIFICATION AND EXPRESSION STUDIES OF MAMMALIAN HOMOLOGS OF THE DROSOPHILA CDP-DIACYLGLYCEROL SYNTHASE (CDS) GENE - IMPLICATIONS FOR THEEVOLUTION OF PHOTOTRANSDUCTION MECHANISMS

      European journal of human genetics
    58. DENDUNNEN JT; KRAAYENBRINK T; VANSCHOONEVELD M; VANDEVOSSE E; DEJONG PTVM; TENBRINK JB; SCHUURMAN E; TIJMES N; VANOMMEN GJB; BERGEN AAB; ANDOLFI G; MONTINI E; LI Y; OUDET C; BOLZ H; KAPLAN J; ORTH U; GAL A; HANAUER A; BARDELLI AM; AYUSO C; DIAZ FJ; BITOUN P; VENTRUTO V; BALLABIO A; FRANCO B; HIRIYANNA KT; BINGHAM EL; MCHENRY C; PAWAR H; COATS C; DARGA T; RICHARDS JE; SIEVING PA; HUOPANIEMI L; RANTALA A; ROSENBERG T; DAHL N; WRIGHT A; DELACHAPELLE A; ALITALO T; LENZNER S; BRUNNER B; FEIL S; NIESLER B; SCHULZ U; PINCKERS A; BLANKENNAGEL A; RUETHER K; KELLNER U; RAPPOLD G; ROPERS HH; KALSCHEUER V; BERGER W; TRUMP D; WALPOLE SM; NICOLAOU A; GAYTHOR SA; PIMENIDES D; GEORGE NDL; MOORE UT; YATES JRW
      FUNCTIONAL IMPLICATIONS OF THE SPECTRUM OF MUTATIONS FOUND IN 234 CASES WITH X-LINKED JUVENILE RETINOSCHISIS (XLRS)

      Human molecular genetics (Print)
    59. DALZOTTO L; QUADERI NA; ELLIOTT R; LINGERFELTER PA; CARREL L; VALSECCHI V; MONTINI E; YEN CH; CHAPMAN V; KALCHEVA I; ARRIGO G; ZUFFARDI O; THOMAS S; WILLARD HF; BALLABIO A; DISTECHE CM; RUGARLI EI
      THE MOUSE MID1 GENE - IMPLICATIONS FOR THE PATHOGENESIS OF OPITZ-SYNDROME AND THE EVOLUTION OF THE MAMMALIAN PSEUDOAUTOSOMAL REGION

      Human molecular genetics
    60. BORSANI G; BALLABIO A; BANFI S
      A PRACTICAL GUIDE TO ORIENT YOURSELF IN THE LABYRINTH OF GENOME DATABASES

      Human molecular genetics (Print)
    61. Bulfone, A; Gattuso, C; Marchitiello, A; Pardini, C; Boncinelli, E; Borsani, G; Banfi, S; Ballabio, A
      The embryonic expression pattern of 40 murine cDNAs homologous to Drosophila mutant genes (Dres): a comparative and topographic approach to predict gene function

      HUMAN MOLECULAR GENETICS
    62. MONTINI E; ANDOLFI G; CARUSO A; BUCHNER G; WALPOLE SM; MARIANI M; CONSALEZ GG; TRUMP D; BALLABIO A; FRANCO B
      IDENTIFICATION AND CHARACTERIZATION OF A NOVEL SERINE-THREONINE KINASE GENE FROM THE XP22 REGION

      Genomics (San Diego, Calif.)
    63. DECONCILIIS L; MARCHITIELLO A; WAPENAAR MC; BORSANI G; GIGLIO S; MARIANI M; CONSALEZ GG; ZUFFARDI O; FRANCO B; BALLABIO A; BANFI S
      CHARACTERIZATION OF CXORF5 (71-7A), A NOVEL HUMAN CDNA MAPPING TO XP22 AND ENCODING A PROTEIN CONTAINING COILED-COIL ALPHA-HELICAL DOMAINS

      Genomics (San Diego, Calif.)
    64. LONIGRO C; VENESIO T; REYMOND A; MERONI G; ALBERICI P; CAINARCA S; ENRICO F; STACK M; LEDBETTER DH; LISCIA DS; BALLABIO A; CARROZZO R
      THE HUMAN ROX GENE - GENOMIC STRUCTURE AND MUTATION ANALYSIS IN HUMANBREAST-TUMORS

      Genomics
    65. PICCINI M; VITELLI F; BRUTTINI M; POBER BR; JONSSON JJ; VILLANOVA M; ZOLLO M; BORSANI G; BALLABIO A; RENIERI A
      FACL4, A NEW GENE ENCODING LONG-CHAIN ACYL-COA SYNTHETASE-4, IS DELETED IN A FAMILY WITH ALPORT-SYNDROME, ELLIPTOCYTOSIS, AND MENTAL-RETARDATION

      Genomics
    66. ROCCHIGIANI M; LESTINGI M; LUDDI A; ORLANDINI M; FRANCO B; ROSSI E; BALLABIO A; ZUFFARDI O; OLIVIERO S
      HUMAN FIGF - CLONING, GENE STRUCTURE, AND MAPPING TO CHROMOSOME XP22.1 BETWEEN THE PIGA AND THE GRPR GENES

      Genomics
    67. 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
    68. JONSSON JJ; RENIERI A; GALLAGHER PG; KASHTAN CE; CHERNISKE EM; BRUTTINI M; PICCINI M; VITELLI F; BALLABIO A; POBER BR
      ALPORT SYNDROME, MENTAL-RETARDATION, MIDFACE HYPOPLASIA, AND ELLIPTOCYTOSIS - A NEW X-LINKED CONTIGUOUS GENE DELETION SYNDROME

      Journal of Medical Genetics
    69. PUCA AA; NIGRO V; PILUSO G; BELSITO A; SAMPAOLO S; QUADERI N; ROSSI E; DIIORIO G; BALLABIO A; FRANCO B
      IDENTIFICATION AND CHARACTERIZATION OF A NOVEL MEMBER OF THE DYSTROBREVIN GENE FAMILY

      FEBS letters
    70. BULFONE A; GATTUSO C; BANFI S; BORSANI G; BALLABIO A
      SYSTEMATIC CHARACTERIZATION BY IN-SITU HYBRIDIZATION OF THE EMBRYONICEXPRESSION PATTERNS OF MURINE CDNAS HOMOLOGOUS TO DROSOPHILA MUTANT-GENES (DRES, DROSOPHILA-RELATED EXPRESSED SEQUENCE)

      Developmental biology (Print)
    71. PETRELLA A; DOTI I; AGOSTI V; GIARRUSSO PC; VITALE D; BOND HM; CUOMO C; TASSONE P; FRANCO B; BALLABIO A; VENUTA S; MORRONE G
      A 5' REGULATORY SEQUENCE CONTAINING 2 ETS MOTIFS CONTROLS THE EXPRESSION OF THE WISKOTT-ALDRICH-SYNDROME PROTEIN (WASP) GENE IN HUMAN HEMATOPOIETIC-CELLS

      Blood
    72. GAUDENZ K; ROESSLER E; QUADERI N; FRANCO B; FELDMAN G; GASSER DL; WITTWER B; HORST J; MONTINI E; OPITZ JM; BALLABIO A; MUENKE M
      OPITZ G BBB SYNDROME IN XP22 - MUTATIONS IN THE MID1 GENE-CLUSTER IN THE CARBOXY-TERMINAL DOMAIN (VOL 63, PG 703, 1998)/

      American journal of human genetics
    73. GAUDENZ K; ROESSLER E; QUADERI N; FRANCO B; FELDMAN G; GASSER DL; WITTWER B; MONTINI E; OPITZ JM; BALLABIO A; MUENKE M
      OPITZ G BBB SYNDROME IN XP22 - MUTATIONS IN THE MID1 GENE-CLUSTER IN THE CARBOXY-TERMINAL DOMAIN/

      American journal of human genetics
    74. 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
    75. BIONE S; SALA C; MANZINI C; ARRIGO G; ZUFFARDI O; BANFI S; BORSANI G; JONVEAUX P; PHILIPPE C; ZUCCOTTI M; BALLABIO A; TONIOLO D
      A HUMAN HOMOLOG OF THE DROSOPHILA-MELANOGASTER DIAPHANOUS GENE IS DISRUPTED IN A PATIENT WITH PREMATURE OVARIAN FAILURE - EVIDENCE FOR CONSERVED FUNCTION IN OOGENESIS AND IMPLICATIONS FOR HUMAN STERILITY

      American journal of human genetics
    76. DANIELE A; PARENTI G; DADDIO M; ANDRIA G; BALLABIO A; MERONI G
      BIOCHEMICAL-CHARACTERIZATION OF ARYLSULFATASE-E AND FUNCTIONAL-ANALYSIS OF MUTATIONS FOUND IN PATIENTS WITH X-LINKED CHONDRODYSPLASIA PUNCTATA

      American journal of human genetics
    77. QUADERI NA; SCHWEIGER S; GAUDENZ K; FRANCO B; RUGARLI EI; BERGER W; FELDMAN GJ; VOLTA M; ANDOLFI G; GILGENKRANTZ S; MARION RW; HENNEKAM RCM; OPITZ JM; MUENKE M; ROPERS HH; BALLABIO A
      OPITZ G BBB SYNDROME, A DEFECT OF MIDLINE DEVELOPMENT, IS DUE TO MUTATIONS IN A NEW RING FINGER GENE ON XP22/

      Nature genetics
    78. REPETTO M; BALLABIO A; ZOLLO M
      A METHOD TO DIRECT-SEQUENCE COSMID LAWRIST16 CLONES

      DNA sequence
    79. GLASER B; GRUTZNER F; TAYLOR K; SCHIEBEL K; MERONI G; TSIOUPRA K; PASANTES J; RIETSCHEL W; TODER R; WILLMANN U; ZEITLER S; YEN P; BALLABIO A; RAPPOLD G; SCHEMPP W
      COMPARATIVE MAPPING OF XP22 GENES IN HOMINOIDS - EVOLUTIONARY LINEAR INSTABILITY OF THEIR Y-HOMOLOGS

      Chromosome research
    80. MONTINI E; RUGARLI EI; VANDEVOSSE E; ANDOLFI G; MARIANI M; PUCA AA; CONSALEZ GG; DENDUNNEN JT; BALLABIO A; FRANCO B
      A NOVEL HUMAN SERINE-THREONINE PHOSPHATASE RELATED TO THE DROSOPHILA RETINAL-DEGENERATION-C (RDGC) GENE IS SELECTIVELY EXPRESSED IN SENSORYNEURONS OF NEURAL CREST ORIGIN

      Human molecular genetics
    81. BANFI S; BORSANI G; BULFONE A; BALLABIO A
      DROSOPHILA-RELATED EXPRESSED SEQUENCES

      Human molecular genetics
    82. PARENTI G; MERONI G; BALLABIO A
      THE SULFATASE GENE FAMILY

      Current opinion in genetics & development
    83. VALSECCHI V; GHEZZI C; BALLABIO A; RUGARLI EI
      JAGGED2 - A PUTATIVE NOTCH LIGAND EXPRESSED IN THE APICAL ECTODERMAL RIDGE AND IN SITES OF EPITHELIAL-MESENCHYMAL INTERACTIONS

      Mechanisms of development
    84. PUCA AA; ZOLLO M; REPETTO M; ANDOLFI G; GUFFANTI A; SIMON G; BALLABIO A; FRANCO B
      IDENTIFICATION BY SHOTGUN SEQUENCING, GENOMIC ORGANIZATION, AND FUNCTIONAL-ANALYSIS OF A 4TH ARYLSULFATASE GENE (ARSF) FROM THE XP22.3 REGION

      Genomics
    85. 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
    86. VANDEVOSSE E; FRANCO B; VANDERBENT P; MONTINI E; ORTH U; HANAUER A; TIJMES N; VANOMMEN GJB; BALLABIO A; DENDUNNEN JT; BERGEN AAB
      EXCLUSION OF PPEF AS THE GENE CAUSING X-LINKED JUVENILE RETINOSCHISIS

      Human genetics
    87. MERONI G; REYMOND A; ALCALAY M; BORSANI G; TANIGAMI A; TONLORENZI R; LONIGRO C; MESSALI S; ZOLLO M; LEDBETTER DH; BRENT R; BALLABIO A; CARROZZO R
      ROX, A NOVEL BHLHZIP PROTEIN EXPRESSED IN QUIESCENT CELLS THAT HETERODIMERIZES WITH MAX, BINDS A NONCANONICAL E-BOX AND ACTS AS A TRANSCRIPTIONAL REPRESSOR (VOL 16, PG 2892, 1997)

      EMBO journal
    88. MERONI G; REYMOND A; ALCALAY M; BORSANI G; TANIGAMI A; TONLORENZI R; LONIGRO C; MESSALI S; ZOLLO M; LEDBETTER DH; BRENT R; BALLABIO A; CARROZZO R
      ROX, A NOVEL BHLHZIP PROTEIN EXPRESSED IN QUIESCENT CELLS THAT HETERODIMERIZES WITH MAX, BINDS A NONCANONICAL E-BOX AND ACTS AS A TRANSCRIPTIONAL REPRESSOR

      EMBO journal
    89. GUFFANTI A; BANFI S; SIMON G; BALLABIO A; BORSANI G
      DRES SEARCH ENGINE - OF FLIES, MEN AND ESTS

      Trends in genetics
    90. PARENTI G; BUTTITTA P; MERONI G; FRANCO B; BERNARD L; RIZZOLO MG; BRUNETTIPIERRI N; BALLABIO A; ANDRIA G
      X-LINKED RECESSIVE CHONDRODYSPLASIA PUNCTATA DUE TO A NEW POINT MUTATION OF THE ARSE GENE

      American journal of medical genetics
    91. ADLER DA; RUGARLI EI; LINGENFELTER PA; TSUCHIYA K; POSLINSKI D; LIGGITT HD; CHAPMAN VM; ELLIOTT RW; BALLABIO A; DISTECHE CM
      EVIDENCE OF EVOLUTIONARY UP-REGULATION OF THE SINGLE ACTIVE X-CHROMOSOME IN MAMMALS BASED ON CLC4 EXPRESSION LEVELS IN MUS-SPRETUS AND MUS MUSCULUS

      Proceedings of the National Academy of Sciences of the United Statesof America
    92. DECARLIS L; ZURLENI F; BALLABIO A; PIROTTA V; RONDINARA G; SANSALONE CV; COLELLA G; SLIM AO; MERONI A; BELLI L; FORTI D
      LEFT THORACIC APPROACH FOR CANCER OF CARDIA - EARLY AND LATE RESULTS

      International surgery
    93. QUADERI NA; SCHWEIGER S; GAUDENZ K; FRANCO B; RUGARLI E; FELDMAN GJ; VOLTA M; GILGENKRANTZ S; BERGER W; OPITZ J; MUENCKE J; ROPERS H; BALLABIO A
      OPITZ-SYNDROME, A DEFECT OF MIDLINE DEVELOPMENT, IS DUE TO MUTATIONS IN A NOVEL RING FINGER GENE ON XP22

      American journal of human genetics
    94. DISTECHE CM; ADLER DA; RUGARLI EI; LINGENFELTER PA; TSUCHIYA K; POSLINSKI D; LIGGITT HD; CHAPMAN VM; ELLIOTT RW; BALLABIO A
      CLC4 EXPRESSION LEVELS IN MUS-SPRETUS AND MUS MUSCULUS CONSISTENT WITH UP-REGULATION OF THE SINGLE ACTIVE X-CHROMOSOME IN MAMMALS

      American journal of human genetics
    95. BORSANI G; BANFI S; BARBIERI AM; MENGUZZATO E; PARDINI C; BULFONE A; BALLABIO A
      SYSTEMATIC SEQUENCE, MAPPING, AND EXPRESSION ANALYSIS OF HUMAN AND MURINE DROSOPHILA-RELATED EXPRESSED SEQUENCES (DRES)

      American journal of human genetics
    96. 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
    97. BERGEN AAB; VANDEVOSSE E; FRANCO B; VANDERBENT P; BAKKER E; MONTINI E; HANAUER A; TIJMES E; VANOMMEN GJB; BALLABIO A; DENDUNNEN JT
      REFINEMENT OF THE LOCALIZATION OF THE X-LINKED RETINOSCHISIS GENE

      American journal of human genetics
    98. RENIERI A; PICCINI M; VITELLI F; BRUTTINI M; POBER BR; JONSSON JJ; ZOLLO M; BORSANI G; BALLABIO A
      A NEW GENE ENCODING LONG-CHAIN ACYL-COA SYNTHETASE-4 (LACS4), IS DELETED IN A FAMILY WITH ALPORT-SYNDROME, ELLIPTOCYTOSIS AND MENTAL-RETARDATION

      American journal of human genetics
    99. SCHIAFFINO MV; DELLAMBRA E; BASCHIROTTO C; BONDANZA S; MONTALI S; TACCHETTI C; DELUCA M; BALLABIO A
      SUCCESSFUL TRANSDUCTION OF SKIN MELANOCYTES FROM A PATIENT WITH OCULAR ALBINISM TYPE-1 (OA1) USING A RETROVIRAL VECTOR CARRYING THE OA1 GENE

      American journal of human genetics
    100. FERRERO GB; GEBBIA M; PILIA G; WITTE D; PEIER A; HOPKIN RJ; CRAIGEN WJ; SHAFFER LG; SCHLESSINGER D; BALLABIO A; CASEY B
      A SUBMICROSCOPIC DELETION IN XQ26 ASSOCIATED WITH FAMILIAL SITUS AMBIGUUS

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/08/20 alle ore 20:00:22