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Results: 1-16 |
Results: 16
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations
Authors: Rossi, E Piccini, F Zollino, M Neri, G Caselli, D Tenconi, R Castellan, C Carrozzo, R Danesino, C Zuffardi, O Ragusa, A Castiglia, L Galesi, O Greco, D Romano, C Pierluigi, M Perfumo, C Di Rocco, M Faravelli, F Bricarelli, FD Bonaglia, M Bedeschi, M Borgatti, R
Citation: E. Rossi et al., Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations, J MED GENET, 38(6), 2001, pp. 417-420
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome
Authors: Bonglia, MC Giorda, R Borgatti, R Felisari, G Gagliardi, C Selicorni, A Zuffardi, O
Citation: Mc. Bonglia et al., Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome, AM J HU GEN, 69(2), 2001, pp. 261-268
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements
Authors: Giglio, S Broman, KW Matsumoto, N Calvari, V Gimelli, G Neumann, T Ohashi, H Voullaire, L Larizza, D Giorda, R Weber, JL Ledbetter, DH Zuffardi, O
Citation: S. Giglio et al., Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements, AM J HU GEN, 68(4), 2001, pp. 874-883
Mapping of a human centromere onto the DNA by topoisomerase II cleavage
Authors: Floridia, G Zatterale, A Zuffardi, O Tyler-Smith, C
Citation: G. Floridia et al., Mapping of a human centromere onto the DNA by topoisomerase II cleavage, EMBO REP, 1(6), 2000, pp. 489-493
Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q
Authors: Bonaglia, MC Giorda, R Poggi, G Raggi, ME Rossi, E Baroncini, A Giglio, S Borgatti, R Zuffardi, O
Citation: Mc. Bonaglia et al., Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q, EUR J HUM G, 8(8), 2000, pp. 597-603
Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements
Authors: Giglio, S Pirola, B Arrigo, G Dagrada, P Bardoni, B Bernardi, F Russo, G Argentiero, L Forabosco, A Carrozzo, R Zuffardi, O
Citation: S. Giglio et al., Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements, EUR J HUM G, 8(1), 2000, pp. 63-70
A new submicroscopic deletion that refines the 9p region for sex reversal
Authors: Calvari, V Bertini, V De Grandi, A Peverali, G Zuffardi, O Ferguson-Smith, M Knudtzon, J Camerino, G Borsani, G Guioli, S
Citation: V. Calvari et al., A new submicroscopic deletion that refines the 9p region for sex reversal, GENOMICS, 65(3), 2000, pp. 203-212
Genomic organization and chromosomal localization of the mouse Connexin36 (mCx36) gene
Authors: Cicirata, F Parenti, R Spinella, F Giglio, S Tuorto, F Zuffardi, O Gulisano, M
Citation: F. Cicirata et al., Genomic organization and chromosomal localization of the mouse Connexin36 (mCx36) gene, GENE, 251(2), 2000, pp. 123-130
A patient with maternal chromosome 14 UPD presenting with a mild phenotypeand MODY
Authors: Manzoni, MF Pramparo, T Stroppolo, A Chiaino, F Bosi, E Zuffardi, O Carrozzo, R
Citation: Mf. Manzoni et al., A patient with maternal chromosome 14 UPD presenting with a mild phenotypeand MODY, CLIN GENET, 57(5), 2000, pp. 406-408
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrumof congenital heart defects
Authors: Giglio, S Graw, SL Gimelli, G Pirola, B Varone, P Voullaire, L Lerzo, F Rossi, E Dellavecchia, C Bonaglia, MC Digilio, MC Giannotti, A Marino, B Carrozzo, R Korenberg, JR Danesino, C Sujansky, E Dallapiccola, B Zuffardi, O
Citation: S. Giglio et al., Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrumof congenital heart defects, CIRCULATION, 102(4), 2000, pp. 432-437
A neocentromere in the DAZ region of the human Y chromosome
Authors: Floridia, G Gimelli, G Zuffardi, O Earnshaw, WC Warburton, PE Tyler-Smith, C
Citation: G. Floridia et al., A neocentromere in the DAZ region of the human Y chromosome, CHROMOSOMA, 109(5), 2000, pp. 318-327
CENP-G in neocentromeres and inactive centromeres
Authors: Gimelli, G Zuffardi, O Giglio, S Zeng, CQ He, DC
Citation: G. Gimelli et al., CENP-G in neocentromeres and inactive centromeres, CHROMOSOMA, 109(5), 2000, pp. 328-333
Evidence for interaction between human PRUNE and nm23-H1 NDPKinase
Authors: Reymond, A Volorio, S Merla, G Al-Maghtheh, M Zuffardi, O Bulfone, A Ballabio, A Zollo, M
Citation: A. Reymond et al., Evidence for interaction between human PRUNE and nm23-H1 NDPKinase, ONCOGENE, 18(51), 1999, pp. 7244-7252
Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene
Authors: Volta, M Bulfone, A Gattuso, C Rossi, E Mariani, M Consalez, GG Zuffardi, O Ballabio, A Banfi, S Franco, B
Citation: M. Volta et al., Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene, GENOMICS, 55(1), 1999, pp. 68-77
Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes
Authors: Fogli, A Giglio, S Arrigo, G Lo Nigro, C Zollo, M Viggiano, L Rocchi, M Archidiacono, N Zuffardi, O Carrozzo, R
Citation: A. Fogli et al., Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes, CYTOG C GEN, 86(3-4), 1999, pp. 225-232
Transmission of a fully functional human neocentromere through three generations
Authors: Tyler-Smith, C Gimelli, G Giglio, S Floridia, C Pandya, A Terzoli, G Warburton, PE Earnshaw, WC Zuffardi, O
Citation: C. Tyler-smith et al., Transmission of a fully functional human neocentromere through three generations, AM J HU GEN, 64(5), 1999, pp. 1440-1444
Risultati: 1-16 |