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Mostrati risultati da 1 a 20 di 155
Data di pubblicazione Titolo Autore(i) Tipo File
1-giu-1990 Delta F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Spanish families Novelli, G; Sangiuolo, Fc; Dallapiccola, B; Gasparini, P; Savoia, A; Pignatti, P; Fernandez, E; Benitez, J; Casals, T; Nunes, V Articolo su rivista
1-set-1990 Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families Novelli, G; Gasparini, P; Savoia, A; Pignatti, P; Sangiuolo, Fc; Dallapiccola, B Articolo su rivista
1-gen-1991 Forensic applications of molecular genetic analysis: an Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms Gasparini, P; Mandich, P; Novelli, G; Bellone, E; Sangiuolo, Fc; De Stefano, F; Potenza, L; Trabetti, E; Marigo, M; Pignatti, P Articolo su rivista
1-apr-1991 A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis Sangiuolo, Fc; Novelli, G; Murru, S; Dallapiccola, B Articolo su rivista
1-mag-1991 The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences Gasparini, P; Nunes, V; Savoia, A; Dognini, M; Morral, N; Gaona, A; Bonizzato, A; Chillon, M; Sangiuolo, Fc; Novelli, G Articolo su rivista
1-ott-1991 Analysis of 14 cystic fibrosis mutations in five south European populations Nunes, V; Gasparini, P; Novelli, G; Gaona, A; Bonizzato, A; Sangiuolo, Fc; Balassopoulou, A; Giménez, F; Dognini, M; Ravnik Glavac, M Articolo su rivista
1-gen-1992 Polymerase chain reaction in the detection of mRNA transcripts from the slow skeletal troponin T (TNNT1) gene in myotonic dystrophy and normal muscle Novelli, G; Gennarelli, M; Zelano, G; Sangiuolo, Fc; Lo Cicero, S; Samson, F; Dallapiccola, B Articolo su rivista
1-apr-1992 The cystic fibrosis delta F508 mutation in the Albanian population Novelli, G; Sangiuolo, Fc; Mokini, V; Cikuli, M; Piazza, A; Dallapiccola, B Articolo su rivista
1-gen-1993 Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients Audrézet, M; Novelli, G; Mercier, B; Sangiuolo, Fc; Maceratesi, P; Férec, C; Dallapiccola, B Articolo su rivista
1-gen-1993 Isolation and cloning by a polymerase chain reaction of a genomic DNA fragment of the human slow skeletal troponin (TNNT1) gene Novelli, G; Gennarelli, M; Sangiuolo, Fc; D'Agruma, L; Cicero, S; Melchionda, S; Dallapiccola, B Articolo su rivista
1-gen-1993 Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene Sangiuolo, Fc; Cicero, S; Maceratesi, P; Quattrucci, S; Novelli, G; Dallapiccola, B Articolo su rivista
1-gen-1994 Le sindromi miotoniche Novelli, G; Gennarelli, M; Massari, A; Sangiuolo, F; Sermoni, A; Scoppetta, C; Dallapiccola, B Articolo su rivista
1-gen-1994 A new method for direct analysis of polymerase chain reaction-amplified human papillomavirus using DNA enzyme immunoassay Sangiuolo, Fc; De Santis, L; Cavicchini, A; Angeloni, U; Romanini, C; Novelli, G; Dallapiccola, B Articolo su rivista
1-gen-1994 The up-to-date molecular genetics of cystic fibrosis Novelli, G; Sangiuolo, Fc; Maceratesi, P; Dallapiccola, B Articolo su rivista
1-gen-1995 Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay Sangiuolo, Fc; Maceratesi, P; Mesoraca, A; Botta, A; Cavicchini, A; Novelli, G; Dallapiccola, B Articolo su rivista
1-gen-1995 Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population Russo, M; Romeo, G; Devoto, M; Barbujani, G; Cabrini, G; Giunta, A; D'Alcamo, E; Leoni, G; Sangiuolo, Fc; Magnani, C; Cremonesi, L; Ferrari, M Articolo su rivista
1-gen-1996 Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency Maceratesi, P; Sangiuolo, Fc; Novelli, G; Ninfali, P; Magnani, M; Reichardt, J; Dallapiccola, B Articolo su rivista
1-gen-1996 Assignment of the hexokinase type 3 gene (HK3) to human chromosome band 5q35.3 by somatic cell hybrids and in situ hybridization Colosimo, A; Calabrese, G; Gennarelli, M; Ruzzo, A; Sangiuolo, Fc; Magnani, M; Palka, G; Novelli, G; Dallapiccola, B Articolo su rivista
1-feb-1996 Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells Massari, A; Novelli, G; Colosimo, A; Sangiuolo, Fc; Palka, G; Calabrese, G; Camurri, L; Ghirardini, G; Milani, G; Giorlandino, C; Gazzanelli, G; Malatesta, M; Romanini, C; Dallapiccola, B Articolo su rivista
1-apr-1996 Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome Pizzuti, A; Novelli, G; Mari, A; Ratti, A; Colosimo, A; Amati, F; Penso, D; Sangiuolo, Fc; Calabrese, G; Palka, G; Silani, V; Gennarelli, M; Mingarelli, R; Scarlato, G; Scambler, P; Dallapiccola, B Articolo su rivista
Mostrati risultati da 1 a 20 di 155
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