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Results: 1-10 |
Results: 10
Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26
Authors: Mangino, M Flex, E Capon, F Sangiuolo, F Carraro, E Gualandi, F Mazzoli, M Martini, A Novelli, G Dallapiccola, B
Citation: M. Mangino et al., Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26, EUR J HUM G, 9(9), 2001, pp. 667-671
Cloning and molecular characterization of three Ubiquitin Fusion Degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster
Authors: Ratti, A Amati, F Bozzali, M Conti, E Sangiuolo, F Berloco, M Palumbo, G Botta, A Pizzuti, A Novelli, G Dallapiccola, B
Citation: A. Ratti et al., Cloning and molecular characterization of three Ubiquitin Fusion Degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster, CYTOG C GEN, 92(3-4), 2001, pp. 279-282
Exclusion of the elastin gene in the pathogenesis of Costello syndrome
Authors: Tandoi, C Botta, A Fini, G Sangiuolo, F Novelli, G Ricci, R Zampino, G Anichini, C Dallapiccola, B
Citation: C. Tandoi et al., Exclusion of the elastin gene in the pathogenesis of Costello syndrome, AM J MED G, 98(3), 2001, pp. 286-287
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3
Authors: Sangiuolo, F Bruscia, E Capon, F Servidei, S Dallapiccola, B Novelli, G
Citation: F. Sangiuolo et al., Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3, EUR J HUM G, 8(10), 2000, pp. 809-812
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
Authors: 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, NV Ivaschenko, T Baranov, V Witt, M Pogorzelski, A Bal, J Zekanowsky, C Wagner, K Stuhrmann, M Bauer, I Seydewitz, HH 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, GD Onay, T Kirdar, B Malone, G Schwarz, M Zhou, ZQ Friedman, KJ Carles, S Claustres, M Bozon, D Verlingue, C Ferec, C Tzetis, M Kanavakis, E Cuppens, H Bombieri, C Pignatti, PF Sangiuolo, F Jordanova, A Kusic, J Radojkovic, D Sertic, J Richter, D Rukavina, AS Bjorck, E Strandvik, B Cardoso, H Montgomery, M Nakielna, B Hughes, D Estivill, X Aznarez, I Tullis, E Tsui, LC Zielenski, J
Citation: T. Dork et al., 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, HUM GENET, 106(3), 2000, pp. 259-268
Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients
Authors: Margiotti, K Sangiuolo, F De Luca, A Froio, F Pearce, CL Ricci-Barbini, V Micali, F Bonafe, M Franceschi, C Dallapiccola, B Novelli, G Reichardt, JKV
Citation: K. Margiotti et al., Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients, DIS MARKER, 16(3-4), 2000, pp. 147-150
Cellular uptake and delivery monitoring of liposome/DNA complexes during in vitro transfection of CFTR gene
Authors: Serafino, AL Novelli, G Di Sario, S Colosimo, A Amicucci, P Sangiuolo, F Mossa, G Dallapiccola, B
Citation: Al. Serafino et al., Cellular uptake and delivery monitoring of liposome/DNA complexes during in vitro transfection of CFTR gene, BIOC MOL B, 47(2), 1999, pp. 337-344
Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome
Authors: Botta, A Sangiuolo, F Calza, L Giardino, L Potenza, S Novelli, G Dallapiccola, B
Citation: A. Botta et al., Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome, GENOMICS, 62(3), 1999, pp. 525-528
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13
Authors: Servidei, S Capon, F Spinazzola, A Mirabella, M Semprini, S de Rosa, G Gennarelli, M Sangiuolo, F Ricci, E Mohrenweiser, HW Dallapiccola, B Tonali, P Novelli, G
Citation: S. Servidei et al., A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13, NEUROLOGY, 53(4), 1999, pp. 830-837
Gene transfection efficiency of tracheal epithelial cells by DC-Chol-DOPE/DNA complexes
Authors: Colosimo, A Serafino, A Sangiuolo, F Di Sario, S Bruscia, E Amicucci, P Novelli, G Dallapiccola, B Mossa, G
Citation: A. Colosimo et al., Gene transfection efficiency of tracheal epithelial cells by DC-Chol-DOPE/DNA complexes, BBA-BIOMEMB, 1419(2), 1999, pp. 186-194
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