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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
   
   S. Cairo et al., "WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, isa new member of the Mlx transcription factor network", HUM MOL GEN, 10(6), 2001, pp. 617-627
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
   
   M. Font et al., "Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria", HUM MOL GEN, 10(4), 2001, pp. 305-316
3. Hastie, N; Ballabio, A; Miller, A
   Genetics of disease - Editorial overview
   CURRENT OPINION IN GENETICS & DEVELOPMENT
   
   N. Hastie et al., "Genetics of disease - Editorial overview", CUR OP GEN, 11(3), 2001, pp. 239-240
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
   
   A. Forus et al., "Amplification and overexpression of PRUNE in human sarcomas and breast carcinomas - a possible mechanism for altering the nm23-H1 activity", ONCOGENE, 20(47), 2001, pp. 6881-6890
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
   
   M.T. Bassi et al., "Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America", HUM GENET, 108(1), 2001, pp. 51-54
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
   
   A. Reymond et al., "The tripartite motif family identifies cell compartments", EMBO J, 20(9), 2001, pp. 2140-2151
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
   
   W. Ahmad et al., "Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family", AM J MED G, 100(1), 2001, pp. 62-65
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
   
   H. Kayserili et al., "Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS)", J MED GENET, 38(6), 2001, pp. 411-417
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
   
   M.I. Ferrante et al., "Identification of the gene for oral-facial-digital type I syndrome", AM J HU GEN, 68(3), 2001, pp. 569-576
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
    
    M. De Fusco et al., "The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy", NAT GENET, 26(3), 2000, pp. 275-276
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
    
    A. Bulfone et al., "Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS", HUM MOL GEN, 9(9), 2000, pp. 1443-1452
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
    
    M. d'Addio et al., "Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1", HUM MOL GEN, 9(20), 2000, pp. 3011-3018
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
    
    B. Incerti et al., "Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1", HUM MOL GEN, 9(19), 2000, pp. 2781-2788
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
    
    G. Meroni et al., "Mlx, a new Max-Like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway?", ONCOGENE, 19(29), 2000, pp. 3266-3277
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
    
    G. Buchner et al., "MAEG, an EGF-repeat containing gene, is a new marker associated with dermatome specification and morphogenesis of its derivatives", MECH DEVEL, 98(1-2), 2000, pp. 179-182
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
    
    G. Buchner et al., "Identification of a new EGF-repeat-containing gene from human Xp22: A candidate for developmental disorders", GENOMICS, 65(1), 2000, pp. 16-23
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
    
    E. Monti et al., "Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane", BIOCHEM J, 349, 2000, pp. 343-351
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
    
    E.M. Surace et al., "Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium", INV OPHTH V, 41(13), 2000, pp. 4333-4337
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
    
    A. Gambardella et al., "A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps tochromosome 1", NEUROLOGY, 55(10), 2000, pp. 1467-1471
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
    
    M.T. Bassi et al., "Cloning of the gene encoding a novel integral membrane protein, mucolipidin - and identification of the two major founder mutations causing mucolipidosis type IV", AM J HU GEN, 67(5), 2000, pp. 1110-1120
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
    
    M. Fukami et al., "A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation", AM J HU GEN, 67(3), 2000, pp. 563-573
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
    
    M.P. Sperandeo et al., "Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance", AM J HU GEN, 66(1), 2000, pp. 92-99
23. Lavorgna, G; Guffanti, A; Borsani, G; Ballabio, A; Boncinelli, E
    TargetFinder: searching annotated sequence databases for target genes of transcription factors
    BIOINFORMATICS
    
    G. Lavorgna et al., "TargetFinder: searching annotated sequence databases for target genes of transcription factors", BIOINFORMAT, 15(2), 1999, pp. 172-173
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
    
    L. Feliubadalo et al., "Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)AT) of rBAT", NAT GENET, 23(1), 1999, pp. 52-57
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
    
    M.V. Schiaffino et al., "Ocular albinism: evidence for a defect in an intracellular signal transduction system", NAT GENET, 23(1), 1999, pp. 108-112
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
    
    G. Borsani et al., "SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance", NAT GENET, 21(3), 1999, pp. 297-301
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
    
    W. Ahmad et al., "Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity", EUR J HUM G, 7(7), 1999, pp. 828-832
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
    
    S. Cainarca et al., "Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle", HUM MOL GEN, 8(8), 1999, pp. 1387-1396
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
    
    G. Buchner et al., "MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development", HUM MOL GEN, 8(8), 1999, pp. 1397-1407
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
    
    G. Borsani et al., "EYA4, a novel vertebrate gene related to Drosophila eyes absent", HUM MOL GEN, 8(1), 1999, pp. 11-23
31. Monti, E; Preti, A; Nesti, C; Ballabio, A; Borsani, G
    Expression of a novel human sialidase encoded by the NEU2 gene
    GLYCOBIOLOGY
    
    E. Monti et al., "Expression of a novel human sialidase encoded by the NEU2 gene", GLYCOBIOLOG, 9(12), 1999, pp. 1313-1321
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
    
    A. Reymond et al., "Evidence for interaction between human PRUNE and nm23-H1 NDPKinase", ONCOGENE, 18(51), 1999, pp. 7244-7252
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
    
    A. Bulfone et al., "Expression pattern of the Tbr2 (Eomesodermin) gene during mouse and chick brain development", MECH DEVEL, 84(1-2), 1999, pp. 133-138
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
    
    M.T. Bassi et al., "SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family", GENOMICS, 62(2), 1999, pp. 297-303
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
    
    G. Buchner et al., "Identification of a novel homolog of the Drosophila staufen protein in thechromosome 8q13-q21.1 region", GENOMICS, 62(1), 1999, pp. 113-118
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
    
    S. Banfi et al., "Identification and characterization of AFG3L2, a novel paraplegin-related gene", GENOMICS, 59(1), 1999, pp. 51-58
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
    
    S.K. Prakash et al., "Characterization of a novel chromo domain gene in Xp22.3 with homology to Drosophila msl-3", GENOMICS, 59(1), 1999, pp. 77-84
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
    
    E. Montini et al., "Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22", GENOMICS, 58(1), 1999, pp. 65-72
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
    
    E. Monti et al., "Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases", GENOMICS, 57(1), 1999, pp. 137-143
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
    
    M. Volta et al., "Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene", GENOMICS, 55(1), 1999, pp. 68-77
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
    
    R. Guerrini et al., "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", ANN NEUROL, 45(3), 1999, pp. 344-352
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
    
    A. Fogli et al., "Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly.", ANN NEUROL, 45(2), 1999, pp. 154-161
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
    
    M. Piccini et al., "Evidence for genetic heterogeneity in benign familial hematuria", AM J NEPHR, 19(4), 1999, pp. 464-467
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
    
    A.M. Barbieri et al., "A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis", P NAS US, 96(19), 1999, pp. 10729-10734
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
    
    M.T. Bassi et al., "X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats", AM J HU GEN, 64(6), 1999, pp. 1604-1616
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
    
    F. Scolari et al., "Identification of a new locus for medullary cystic disease, on chromosome 16p12", AM J HU GEN, 64(6), 1999, pp. 1655-1660
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
    
    A. Auricchio et al., "Double heterozygosity for a RET substitution interfering with splicing andan EDNRB missense mutation in Hirschsprung disease", AM J HU GEN, 64(4), 1999, pp. 1216-1221
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
    
    Y. Segal et al., "LINE-1 elements at the sites of molecular rearrangements in Alport syndrome - Diffuse leiomyomatosis", AM J HU GEN, 64(1), 1999, pp. 62-69
49. Ballabio, A; Brown, S; Fisher, E
    Strategies for gene discovery in mammalian systems
    GENOME ANALYSIS: A LABORATORY MANUAL, VOL 2, DETECTING GENES
    
    A. Ballabio et al., "Strategies for gene discovery in mammalian systems", GENOME ANAL, 2, 1998, pp. 1-47
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
    
    S. Volorio et al., "Sequencing analysis of forty-eight human image cDNA clones similar to Drosophila mutant protein", DNA SEQ, 9(5-6), 1998, pp. 307-315
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
    
    T.C. Cox et al., "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, 6(4), 1998, pp. 406-412
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
    
    G. Borsani et al., "IDENTIFICATION AND CHARACTERIZATION OF EYA4, A NOVEL MAMMALIAN HOMOLOG OF THE DROSOPHILA-MELANOGASTER EYES ABSENT GENE", European journal of human genetics, 6, 1998, pp. 31-31
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
    
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54. RUGARLI E; DALZOTTO L; QUADERI N; ELLIOTT R; LINGERFELTER PA; CARREL L; THOMAS S; WILLARD H; DISTECHE C; BALLABIO A
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55. BARBIERI AM; BULFONE A; MARCHITIELLO A; MUNIER F; BITOUN P; SCHORDERET DF; BORSANI G; BALLABIO A; BANFI S
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56. MONTI E; ROSSI E; PRETI A; BALLABIO A; BORSANI G
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57. VOLTA M; BULFONE A; ROSSI E; MARIANI M; CONSALES G; ZUFFARDI O; BALLABIO A; BANFI S; FRANCO B
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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
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    Human molecular genetics (Print)
    
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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
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    Human molecular genetics
    
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60. BORSANI G; BALLABIO A; BANFI S
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61. Bulfone, A; Gattuso, C; Marchitiello, A; Pardini, C; Boncinelli, E; Borsani, G; Banfi, S; Ballabio, A
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62. MONTINI E; ANDOLFI G; CARUSO A; BUCHNER G; WALPOLE SM; MARIANI M; CONSALEZ GG; TRUMP D; BALLABIO A; FRANCO B
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    Genomics (San Diego, Calif.)
    
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63. DECONCILIIS L; MARCHITIELLO A; WAPENAAR MC; BORSANI G; GIGLIO S; MARIANI M; CONSALEZ GG; ZUFFARDI O; FRANCO B; BALLABIO A; BANFI S
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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
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    Genomics
    
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65. PICCINI M; VITELLI F; BRUTTINI M; POBER BR; JONSSON JJ; VILLANOVA M; ZOLLO M; BORSANI G; BALLABIO A; RENIERI A
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66. ROCCHIGIANI M; LESTINGI M; LUDDI A; ORLANDINI M; FRANCO B; ROSSI E; BALLABIO A; ZUFFARDI O; OLIVIERO S
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    Genomics
    
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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
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68. JONSSON JJ; RENIERI A; GALLAGHER PG; KASHTAN CE; CHERNISKE EM; BRUTTINI M; PICCINI M; VITELLI F; BALLABIO A; POBER BR
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69. PUCA AA; NIGRO V; PILUSO G; BELSITO A; SAMPAOLO S; QUADERI N; ROSSI E; DIIORIO G; BALLABIO A; FRANCO B
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70. BULFONE A; GATTUSO C; BANFI S; BORSANI G; BALLABIO A
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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
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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
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73. GAUDENZ K; ROESSLER E; QUADERI N; FRANCO B; FELDMAN G; GASSER DL; WITTWER B; MONTINI E; OPITZ JM; BALLABIO A; MUENKE M
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74. DEMICHELE G; DEFUSCO M; CAVALCANTI F; FILLA A; MARCONI R; VOLPE G; MONTICELLI A; BALLABIO A; CASARI G; COCOZZA S
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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
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76. DANIELE A; PARENTI G; DADDIO M; ANDRIA G; BALLABIO A; MERONI G
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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
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78. REPETTO M; BALLABIO A; ZOLLO M
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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
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80. MONTINI E; RUGARLI EI; VANDEVOSSE E; ANDOLFI G; MARIANI M; PUCA AA; CONSALEZ GG; DENDUNNEN JT; BALLABIO A; FRANCO B
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81. BANFI S; BORSANI G; BULFONE A; BALLABIO A
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82. PARENTI G; MERONI G; BALLABIO A
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83. VALSECCHI V; GHEZZI C; BALLABIO A; RUGARLI EI
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84. PUCA AA; ZOLLO M; REPETTO M; ANDOLFI G; GUFFANTI A; SIMON G; BALLABIO A; FRANCO B
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85. PRIORI SG; SCHWARTZ PJ; NAPOLITANO C; MASTROIANNI N; PAGANINI V; CANTU F; LOCATI EH; TOWBIN JA; BALLABIO A; CASARI G
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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
    
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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)
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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
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89. GUFFANTI A; BANFI S; SIMON G; BALLABIO A; BORSANI G
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90. PARENTI G; BUTTITTA P; MERONI G; FRANCO B; BERNARD L; RIZZOLO MG; BRUNETTIPIERRI N; BALLABIO A; ANDRIA G
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91. ADLER DA; RUGARLI EI; LINGENFELTER PA; TSUCHIYA K; POSLINSKI D; LIGGITT HD; CHAPMAN VM; ELLIOTT RW; BALLABIO A; DISTECHE CM
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92. DECARLIS L; ZURLENI F; BALLABIO A; PIROTTA V; RONDINARA G; SANSALONE CV; COLELLA G; SLIM AO; MERONI A; BELLI L; FORTI D
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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
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94. DISTECHE CM; ADLER DA; RUGARLI EI; LINGENFELTER PA; TSUCHIYA K; POSLINSKI D; LIGGITT HD; CHAPMAN VM; ELLIOTT RW; BALLABIO A
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