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Results: 1-20 |
Results: 20
A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy
Authors: Vohanka, S Vytopil, M Bednarik, J Lukas, Z Kadanka, Z Schildberger, J Ricotti, R Bione, S Toniolo, D
Citation: S. Vohanka et al., A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy, NEUROMUSC D, 11(4), 2001, pp. 411-413
Direct selection of cDNAs by genomic clones
Authors: Toniolo, D
Citation: D. Toniolo, Direct selection of cDNAs by genomic clones, METH MOL B, 175, 2001, pp. 189-199
X chromosome genes and premature ovarian failure
Authors: Bione, S Toniolo, D
Citation: S. Bione et D. Toniolo, X chromosome genes and premature ovarian failure, SEMIN REP M, 18(1), 2000, pp. 51-57
Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy
Authors: Di Blasi, C Morandi, L di Barletta, MR Bione, S Bernasconi, P Cerletti, M Bono, R Blasevich, F Toniolo, D Mora, M
Citation: C. Di Blasi et al., Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy, NEUROMUSC D, 10(8), 2000, pp. 567-571
X-linked non-specific mental retardation
Authors: Toniolo, D D'Adamo, P
Citation: D. Toniolo et P. D'Adamo, X-linked non-specific mental retardation, CUR OP GEN, 10(3), 2000, pp. 280-285
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
Authors: Bonne, G Mercuri, E Muchir, A Urtizberea, A Becane, HM Recan, D Merlini, L Wehnert, M Boor, R Reuner, U Vorgerd, M Wicklein, EM Eymard, B Duboc, D Penisson-Besnier, I Cuisset, JM Ferrer, X Desguerre, I Lacombe, D Bushby, K Pollitt, C Toniolo, D Fardeau, M Schwartz, K Muntoni, F
Citation: G. Bonne et al., Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene, ANN NEUROL, 48(2), 2000, pp. 170-180
Emerin expression at the early stages of myogenic differentiation
Authors: Lattanzi, G Ognibene, A Sabatelli, P Capanni, C Toniolo, D Columbaro, M Santi, S Riccio, M Merlini, L Maraldi, NM Squarzoni, S
Citation: G. Lattanzi et al., Emerin expression at the early stages of myogenic differentiation, DIFFERENTIA, 66(4-5), 2000, pp. 208-217
In search of the MRX genes
Authors: Toniolo, D
Citation: D. Toniolo, In search of the MRX genes, AM J MED G, 97(3), 2000, pp. 221-227
Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: Linkage analysis and clinical findings in a three-generation Sardinian family
Authors: Russo, S Cogliati, F Cavalleri, F Cassitto, MG Giglioli, R Toniolo, D Casari, G Larizza, L
Citation: S. Russo et al., Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: Linkage analysis and clinical findings in a three-generation Sardinian family, AM J MED G, 94(5), 2000, pp. 376-382
Barth syndrome: X-linked dilated cardiomyopathy
Authors: Rost, I Duroux, A Toniolo, D Holinski-Feder, E Kozlik-Feldmann, R
Citation: I. Rost et al., Barth syndrome: X-linked dilated cardiomyopathy, MONATS KIND, 148(3), 2000, pp. 246-250
A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
Authors: Meloni, I Bruttini, M Longo, I Mari, F Rizzolio, F D'Adamo, P Denvriendt, K Fryns, JP Toniolo, D Renieri, A
Citation: I. Meloni et al., A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males, AM J HU GEN, 67(4), 2000, pp. 982-985
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
Authors: di Barletta, MR Ricci, E Galluzzi, G Tonali, P Mora, M Morandi, L Romorini, A Voit, T Orstavik, KH Merlini, L Trevisan, C Biancalana, V Housmanowa-Petrusewicz, I Bione, S Ricotti, R Schwartz, K Bonne, G Toniolo, D
Citation: Mr. Di Barletta et al., Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy, AM J HU GEN, 66(4), 2000, pp. 1407-1412
Mutation analysis of X-linked Emery-Dreifuss muscular dystrophy gene
Authors: Toniolo, D
Citation: D. Toniolo, Mutation analysis of X-linked Emery-Dreifuss muscular dystrophy gene, METH MOL M, 43, 2000, pp. 189-196
Emerin presence in platelets
Authors: Squarzoni, S Sabatelli, P Capanni, C Petrini, S Ognibene, A Toniolo, D Cobianchi, F Zauli, G Bassini, A Baracca, A Guarnieri, C Merlini, L Maraldi, NM
Citation: S. Squarzoni et al., Emerin presence in platelets, ACT NEUROP, 100(3), 2000, pp. 291-298
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
Authors: Bonne, G Di Barletta, MR Varnous, S Becane, HM Hammouda, EH Merlini, L Muntoni, F Greenberg, CR Gary, F Urtizberea, JA Duboc, D Fardeau, M Toniolo, D Schwartz, K
Citation: G. Bonne et al., Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy, NAT GENET, 21(3), 1999, pp. 285-288
Neurite extension occurs in the absence of regulated exocytosis in PC12 subclones
Authors: Leoni, C Menegon, A Benfenati, F Toniolo, D Pennuto, M Valtorta, F
Citation: C. Leoni et al., Neurite extension occurs in the absence of regulated exocytosis in PC12 subclones, MOL BIOL CE, 10(9), 1999, pp. 2919-2931
Muscular dystrophies: alterations in a limited number of cellular pathways?
Authors: Toniolo, D Minetti, C
Citation: D. Toniolo et C. Minetti, Muscular dystrophies: alterations in a limited number of cellular pathways?, CUR OP GEN, 9(3), 1999, pp. 275-282
Selection and mapping of replication origins from a 500-kb region of the human X chromosome and their relationship to gene expression
Authors: Rivella, S Palermo, B Pelizon, C Sala, C Arrigo, G Toniolo, D
Citation: S. Rivella et al., Selection and mapping of replication origins from a 500-kb region of the human X chromosome and their relationship to gene expression, GENOMICS, 62(1), 1999, pp. 11-20
Mapping chromosome 1 with telomere breakage hybrids
Authors: Cooke, H Farr, C Petit, C Toniolo, D
Citation: H. Cooke et al., Mapping chromosome 1 with telomere breakage hybrids, BIOM HLTH R, 23, 1998, pp. 68-71
Provision of a European YAC resource through a co-ordinated consortium
Authors: Gibson, KI Nyberg, K Lehrach, H Zehetner, G van Ommen, GJ den Dunnen, J Toniolo, D
Citation: Ki. Gibson et al., Provision of a European YAC resource through a co-ordinated consortium, BIOM HLTH R, 23, 1998, pp. 218-222
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