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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
   
   L. Crisponi et al., "The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome", NAT GENET, 27(2), 2001, pp. 159-166
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. 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
   
   L. de Sanctis et al., "Cystinuria phenotyping by oral lysine and arginine loading", CLIN NEPHR, 56(6), 2001, pp. 467-474
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
   
   M. Martinelli et al., "C677T variant form at the MTHFR gene and CL/P: A risk factor for mothers?", AM J MED G, 98(4), 2001, pp. 357-360
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
   
   L. Bisceglia et al., "Cystinuria type I: Identification of eight new mutations in SLC3A1", KIDNEY INT, 59(4), 2001, pp. 1250-1256
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
   
   S. Melchionda et al., "MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss", AM J HU GEN, 69(3), 2001, pp. 635-640
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
   
   J. Purroy et al., "Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR", HUM MUTAT, 15(4), 2000, pp. 373-379
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
   
   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
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
   
   L. Feliubadalo et al., "Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1", GENOMICS, 60(3), 1999, pp. 362-365
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
    
    P. Gasparini et al., "A NEONATAL PILOT SCREENING OF CYSTIC-FIBROSIS IN ITALY BASED ON OLA-PCR TECHNIQUE", European journal of human genetics, 6, 1998, pp. 3056-3056
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
    
    L. Bisceglia et al., "MOLECULAR-GENETICS OF EPHAROPHIMOSIS-PTOSIS-EPICANTHUS-INVERSUS-SYNDROME (BPES) - LOCUS REFINEMENT AND EXCLUSION OF CANDIDATE GENES", European journal of human genetics, 6, 1998, pp. 4111-4111
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
    
    L. Dagruma et al., "MOLECULAR-GENETICS OF OSTEOPOROSIS IN ITALY", European journal of human genetics, 6, 1998, pp. 4129-4129
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
    
    L. Bisceglia et al., "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, 12(4), 1998, pp. 255-258
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
    
    V. Annese et al., "POLYMORPHISM OF MOTILIN GENE IN PATIENTS WITH CROHNS-DISEASE", Digestive diseases and sciences, 43(4), 1998, pp. 715-719
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
    
    L. Dellostrologo et al., "INTERFAMILIAL AND INTRAFAMILIAL CLINICAL VARIABILITY IN PATIENTS WITHCYSTINURIA TYPE-I AND IDENTIFIED MUTATION", Journal of the American Society of Nephrology, 8, 1997, pp. 1793-1793
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
    
    M.R. Piemontese et al., "A YAC CONTIG SPANNING THE BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUSSYNDROME AND PROPIONIC ACIDEMIA LOCI", European journal of human genetics, 5(3), 1997, pp. 171-174
17. RIZZONI G; DELLOSTROLOGO L; GASPARINI P; ZELANTE L; BISCEGLIA L; NUNES V; PALACIN M
    RECENT DATA ON CYSTINURIA
    Annales de pediatrie
    
    G. Rizzoni et al., "RECENT DATA ON CYSTINURIA", Annales de pediatrie, 44(10), 1997, pp. 688-691
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
    
    S. Calvano et al., "DETECTION OF DYSTROPHIN DELETION CARRIERS USING FISH ANALYSIS", Clinical genetics, 52(1), 1997, pp. 17-22
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
    
    D. Girelli et al., "HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME CAUSED BY A 29-BASE PAIR DELETION IN THE IRON-RESPONSIVE ELEMENT OF FERRITIN L-SUBUNIT GENE", Blood, 90(5), 1997, pp. 2084-2088
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
    
    S. Rendine et al., "GENETIC HISTORY OF CYSTIC-FIBROSIS MUTATIONS IN ITALY - I - REGIONAL DISTRIBUTION", Annals of Human Genetics, 61, 1997, pp. 411-424
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
    
    P. Gasparini et al., "ASSIGNMENT OF FERRITIN L GENE (FTL) TO HUMAN-CHROMOSOME BAND 19Q13.3 BY IN-SITU HYBRIDIZATION", Annales de genetique, 40(4), 1997, pp. 227-228
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
    
    L. Bisceglia et al., "LOCALIZATION, BY LINKAGE ANALYSIS, OF THE CYSTINURIA TYPE-III GENE TOCHROMOSOME 19Q13.1", American journal of human genetics, 60(3), 1997, pp. 611-616
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
    
    M. Palacin et al., "THE MOLECULAR-BASIS OF CYSTINURIA - THE ROLE OF THE RBAT GENE", Amino acids, 11(2), 1996, pp. 225-246
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
    
    J. Purroy et al., "GENOMIC STRUCTURE AND ORGANIZATION OF THE HUMAN RBAT GENE (SLC3A1)", Genomics, 37(2), 1996, pp. 249-252
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
    
    L. Bisceglia et al., "MOLECULAR ANALYSIS OF THE CYSTINURIA DISEASE GENE - IDENTIFICATION OF4 NEW MUTATIONS, ONE LARGE DELETION, AND ONE POLYMORPHISM", Human genetics, 98(4), 1996, pp. 447-451
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
    
    L. Desanctis et al., "PHENOTYPE CHARACTERIZATION AND PREVALENCE OF RBAT M467T MUTATION IN ITALIAN CYSTINURIC PATIENTS", Journal of inherited metabolic disease, 19(2), 1996, pp. 243-245
27. PIEPOLI A; BISCEGLIA L; GASPARINI P; ANNESE V; LOMBARDI G; ZELANTE L; ANDRIULLI A
    MOTILIN GENE HETEROGENEITY IN INFLAMMATORY BOWEL-DISEASE
    Gastroenterology
    
    A. Piepoli et al., "MOTILIN GENE HETEROGENEITY IN INFLAMMATORY BOWEL-DISEASE", Gastroenterology, 110(4), 1996, pp. 991-991
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
    
    D. Girelli et al., "HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME DUE TO A 29 BP DELETION IN THE IRON-RESPONSIVE ELEMENT OF L-FERRITIN GENE", Blood, 88(10), 1996, pp. 1945-1945
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
    
    S. Giannattasio et al., "MOLECULAR SCREENING OF GENETIC-DEFECTS WITH RNA-SSCP ANALYSIS - THE PKU AND CYSTINURIA MODEL", Molecular and cellular probes, 9(3), 1995, pp. 201-205
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
    
    C. Marigo et al., "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, 9(2), 1995, pp. 139-141
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
    
    A. Bonizzato et al., "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, 95(4), 1995, pp. 397-402
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
    
    S.A. Ciafre et al., "STABILITY AND FUNCTIONAL EFFECTIVENESS OF PHOSPHOROTHIOATE MODIFIED DUPLEX DNA AND SYNTHETIC MINI-GENES", Nucleic acids research, 23(20), 1995, pp. 4134-4142
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
    
    M.J. Calonge et al., "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, 92(21), 1995, pp. 9667-9671
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
    
    D. Girelli et al., "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, 86(11), 1995, pp. 4050-4053
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
    
    D. Girelli et al., "A MUTATION IN THE IRON-RESPONSIVE ELEMENT OF FERRITIN L-SUBUNIT GENE IS ASSOCIATED WITH THE RECENTLY DESCRIBED HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME", Blood, 86(10), 1995, pp. 2327-2327
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
    
    M.J. Calonge et al., "GENETIC-HETEROGENEITY IN CYSTINURIA - NEW MUTATIONS AND POLYMORPHISMS", American journal of human genetics, 57(4), 1995, pp. 1206-1206
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
    
    P. Gasparini et al., "MOLECULAR-GENETICS OF CYSTINURIA - IDENTIFICATION OF 4 NEW MUTATIONS AND 7 POLYMORPHISMS, AND EVIDENCE FOR GENETIC-HETEROGENEITY", American journal of human genetics, 57(4), 1995, pp. 781-788
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
    
    L. Bisceglia et al., "DEVELOPMENT OF RNA-SSCP PROTOCOLS FOR THE IDENTIFICATION AND SCREENING OF CFTR MUTATIONS - IDENTIFICATION OF 2 NEW MUTATIONS", Human mutation, 4(2), 1994, pp. 136-140
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
    
    P. Gasparini et al., "THE MOTILIN GENE - SUBREGIONAL LOCALIZATION, TISSUE EXPRESSION, DNA POLYMORPHISMS AND EXCLUSION AS A CANDIDATE GENE FOR THE HLA-ASSOCIATED IMMOTILE CILIA SYNDROME", Human genetics, 94(6), 1994, pp. 671-674