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Mostrati risultati da 21 a 40 di 156
Data di pubblicazione Titolo Autore(i) Tipo File
1-gen-1997 The molecular genetics of the DiGeorge syndrome Novelli, G; Amati, F; Mari, A; Conti, E; Bengala, M; Telez Sedano, M; Colosimo, A; Sangiuolo, Fc; Scarpino, S; Novelli, A; Sabani, M; Caiola, A; Mingarelli, R; Pizzuti, A; Dallapiccola, B Articolo su rivista
1-gen-1998 Current status of cationic liposome-mediated gene therapy in cystic fibrosis Colosimo, A; Sangiuolo, F; Di Sario, S; Serafino, L; Novelli, A; Sabani, M; Castro, M; Lucidi, V; Mossa, G; Dallapiccola, B; Novelli, G Articolo su rivista
1-gen-1998 Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online Sangiuolo, Fc; Botta, A; Mesoraca, A; Servidei, S; Merlini, L; Fratta, G; Novelli, G; Dallapiccola, B Articolo su rivista
9-mar-1998 Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L) Novelli, G; Mari, A; Amati, F; Colosimo, A; Sangiuolo, Fc; Bengala, M; Conti, E; Ratti, A; Bordoni, R; Pizzuti, A; Baldini, A; Crinelli, R; Pandolfi, F; Magnani, M; Dallapiccola, B Articolo su rivista
1-feb-1999 Cellular uptake and delivery monitoring of liposome/DNA complexes during in vitro transfection of CFTR gene Serafino, A; Novelli, G; Di Sario, S; Colosimo, A; Amicucci, P; Sangiuolo, Fc; Mossa, G; Dallapiccola, B Articolo su rivista
15-lug-1999 Gene transfection efficiency of tracheal epithelial cells by DC-chol-DOPE/DNA complexes Colosimo, A; Serafino, A; Sangiuolo, Fc; Di Sario, S; Bruscia, E; Amicucci, P; Novelli, G; Dallapiccola, B; Mossa, G Articolo su rivista
11-set-1999 A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13 Servidei, S; Capon, F; Spinazzola, A; Mirabella, M; Semprini, S; de Rosa, G; Gennarelli, M; Sangiuolo, Fc; Ricci, E; Mohrenweiser, H; Dallapiccola, B; Tonali, P; Novelli, G Articolo su rivista
15-dic-1999 Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome Botta, A; Sangiuolo, Fc; Calza, L; Giardino, L; Potenza, S; Novelli, G; Dallapiccola, B Articolo su rivista
1-gen-2000 Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3 Sangiuolo, Fc; Bruscia, E; Capon, F; Servidei, S; Dallapiccola, B; Novelli, G Articolo su rivista
1-gen-2000 Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients Margiotti, K; Sangiuolo, Fc; De Luca, A; Froio, F; Pearce, C; Ricci Barbini, V; Micali, F; Bonafe, M; Franceschi, C; Dallapiccola, B; Novelli, G; Reichardt, J Articolo su rivista
1-mar-2000 Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe By:dork, T; Macek, M; Mekus, F; Tummler, B; Tzountzouris, J; Casals, T; Krebsova, A; Koudova, M; Sakmaryova, I; Macek, M; Vavrova, V; Zemkova, D; Ginter, E; Petrova, N; Ivaschenko, T; Baranov, V; Witt, M; Pogorzelski, A; Bal, J; Zekanowsky, C; Wagner, K; Stuhrmann, M; Bauer, I; Seydewitz, H; Neumann, T; Jakubiczka, S; Kraus, C; Thamm, B; Nechiporenko, M; Livshits, L; Mosse, N; Tsukerman, G; Kadasi, L; Ravnik Glavac, M; Glavac, D; Komel, R; Vouk, K; Kucinskas, V; Krumina, A; Teder, M; Kocheva, S; Efremov, G; Onay, T; Kirdar, B; Malone, G; Schwarz, M; Zhou, Z; Friedman, K; Carles, S; Claustres, M; Bozon, D; Verlingue, C; Ferec, C; Tzetis, M; Kanavakis, E; Cuppens, H; Bombieri, C; Pignatti, P; Sangiuolo, Fc; Jordanova, A; Kusic, J; Radojkovic, D; Sertic, J; Richter, D; Rukavina, A; Bjorck, E; Strandvik, B; Cardoso, H; Montgomery, M; Nakielna, B; Hughes, D; Estivill, X; Aznarez, I; Tullis, E; Tsui, L; Zielenski, J Articolo su rivista
1-gen-2001 Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26 Mangino, M; Flex, E; Capon, F; Sangiuolo, Fc; Carraro, E; Gualandi, F; Mazzoli, M; Martini, A; Novelli, G; Dallapiccola, B Articolo su rivista
1-gen-2001 Pharmacogenetics of human androgens and prostatic diseases Novelli, G; Margiotti, K; Sangiuolo, Fc; Reichardt, J Articolo su rivista
1-gen-2001 Letter to the editor: exclusion of the elastin gene in the pathogenesis of Costello syndrome [4] Tandoi, C; Botta, A; Fini, G; Sangiuolo, Fc; Novelli, G; Ricci, R; Zampino, G; Anichini, C; Dallapiccola, B Articolo su rivista
1-gen-2001 Cloning and molecular characterization of three ubiquitin fusion degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster Ratti, A; Amati, F; Bozzali, M; Conti, E; Sangiuolo, Fc; Berloco, M; Palumbo, G; Botta, A; Pizzuti, A; Novelli, G; Dallapiccola, B Articolo su rivista
22-gen-2001 Letter to the editor: Exclusion of the elastin gene in the pathogenesis of Costello syndrome Tandoi, C; Botta, A; Fini, G; Sangiuolo, Fc; Novelli, G; Ricci, R; Zampino, G; Anichini, C; Dallapiccola, B Articolo su rivista
1-gen-2002 Isolation of CF cell lines corrected at ΔF508-CFTR locus by SFHR-mediated targeting Bruscia, E; Sangiuolo, Fc; Sinibaldi, P; Goncz, K; Novelli, G; Gruenert, D Articolo su rivista
1-gen-2002 Towards the pharmacogenomics of cystic fibrosis Sangiuolo, Fc; D'Apice, Mr; Bruscia, E; Lucidi, V; Novelli, G Articolo su rivista
1-ago-2002 Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C Novelli, G; Muchir, A; Sangiuolo, Fc; Helbling Leclerc, A; D'Apice, Mr; Massart, C; Capon, F; Sbraccia, P; Federici, M; Lauro, R; Tudisco, C; Pallotta, R; Scarano, G; Dallapiccola, B; Merlini, L; Bonne, G Articolo su rivista
23-set-2002 In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique Sangiuolo, Fc; Bruscia, E; Serafino, A; Nardone, A; Bonifazi, E; Lais, M; Gruenert, D; Novelli, G Articolo su rivista
Mostrati risultati da 21 a 40 di 156
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