Sfoglia per Autore
"Correlation between genotype and phenotype in patients with cystic fibrosis"
1993-01-01 THE CYSTIC FIBROSIS GENOTYPE PHENOTYPE, Consortium; Gasparini, Paolo
"In vitro amplification of hypervariable DNA regions for the evaluation of chimerism after allogeneic BMT"
1993-01-01 G., Martinelli; E., Trabetti; A., Zaccaria; P., Farabegoli; M., Buzzi; N., Testoni; E., Calori; G., Bandini; G., Rosti; A., Belardinelli; Gasparini, Paolo; R., Galavotti
Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F
1993-01-01 Gasparini, Paolo; L., Borgato; D., Girelli; A., Piperno; O., Olivieri; E., Gottardi; A., Roetto; I., Dianzani; S., Fargion; G., Schinaia; M. D., Cappellini
"Identification of a new DNA polymorphism tightly linked to DQ-alpha locus"
1993-01-01 Gasparini, Paolo; A., Bonizzato; A., Totaro; L., Zelante
"Screening of 62 mutations in a cohort of cystic fibrosis patients from North Eastern Italy: their incidence and clinical features of defined genotypes"
1993-01-01 Gasparini, Paolo; C., Marigo; L., Bisceglia; E., Nicolis; L., Zelante; C., Bombieri; G., Borgo; Pignatti, P. F.; G., Cabrini
"Construction of a genetic map telomeric to HLA-A by microsatellite analysis"
1993-01-01 C., Camaschella; A., Roetto; G., DE SANDRE; A., Piperno; A., Totaro; I., Dianzani; Gasparini, Paolo
"The parental origin of hydatidiform moles and blighted ova: molecular probing with hypervariable DNA polymorphisms"
1993-01-01 E., Trabetti; R., Galavotti; L., Zanini; E., Zardini; N., Zatti; F., Bernardi; A., Notarangelo; A., Croce; Pignatti, P. F.; Gasparini, Paolo
"Cystic fibrosis: the deltaF508 mutation does not lead to an exceptionally severe phenotype. A cohort study"
1993-01-01 G., Borgo; Gasparini, Paolo; A., Bonizzato; G., Cabrini; G., Mastella; P. F., Pignatti
"Detection of a Neurofibromatosis type 1 (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases"
1993-01-01 Gasparini, Paolo; A., Grifa; P., Origone; D., Coviello; R., Antonacci; M., Rocchi
"Genetic Hemochromatosis: molecular study in the HLA-A class I region"
1993-01-01 A., Piperno; M., Sampietro; C., Arosio; C., Camaschella; Gasparini, Paolo; G., Fiorelli
"A new complex polymorphic repeat close to the HLA-A and HLA-E loci"
1994-01-01 A., Totaro; A., Grifa; A., Roetto; L., Zelante; C., Camaschella; Gasparini, Paolo
"Immotile Cilia Syndrome: a recombinant family at HLA-linked gene locus"
1994-01-01 Gasparini, Paolo; A., Grifa; N., Oggiano; E., Fabbrizzi; P. L., Giorgi
"Population variation of Common Cystic Fibrosis Mutations"
1994-01-01 THE CYSTIC FIBROSIS GENETIC ANALYSIS, Consortium; Gasparini, Paolo
"The myelin basic protein gene is not a major susceptibility locus for multiple sclerosis in Italian patients"
1994-01-01 M., Eoli; M., Pandolfo; Gasparini, Paolo; C., Milanese; A., Salmaggi; M., Zeviani
"Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849+10KbC-T provide evidence of mutation recurrence in the CFTR gene."
1994-01-01 N., Morral; R., Llevadot; T., Casals; Gasparini, Paolo; M., Macek; T., Dork; X., Estivill
"Development of Rna SSCP protocols for the identification and screening of CFTR mutations: identification of two new mutations"
1994-01-01 L., Bisceglia; A., Grifa; L., Zelante; Gasparini, Paolo
"Hunting the hemochromatosis gene: progress and problems"
1994-01-01 C., Camaschella; Gasparini, Paolo
"Cytogenetic and molecular analysis of Trisomy 9. Case report and review."
1994-01-01 L., Zelante; A., Notarangelo; A. I., Croce; M. R., Piemontese; Gasparini, Paolo
"The motilin gene: subregional localization, tissue expression, DNA polymorphisms, and exclusion as a candidate gene for the HLA-associated immotile cilia syndrome"
1994-01-01 Gasparini, Paolo; A., Grifa; S., Savasta; I., Merlo; L., Bisceglia; A., Totaro; L., Zelante
Cystinuria caused by mutations in the rBAT, a gene involved in the transport of cystine
1994-01-01 M., Calonge; Gasparini, Paolo; J., Chillaron; M., Chillon; M., Gallucci; F., Rousaud; L., Zelante; X., Testar; B., Dallapiccola; F., DI SILVERIO; P., Barcelò
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