CICCONE, ROBERTO

CICCONE, ROBERTO  

DIPARTIMENTO DI MEDICINA MOLECOLARE  

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A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 1-gen-2008 Rossi, Elena; A. P., Verri; M. G., Patricelli; V., Destefani; I., Ricca; Vetro, Annalisa; Ciccone, Roberto; R., Giorda; D., Toniolo; P., Maraschio; Zuffardi, Orsetta
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. 1-gen-2012 S., Gana; Veggiotti, Pierangelo; G., Sciacca; C., Fedeli; A., Bersano; G., Micieli; M., Maghnie; Ciccone, Roberto; Rossi, Elena; K., Plunkett; W., Bi; V. R., Sutton; Zuffardi, Orsetta
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome. 1-gen-2013 Novara, Francesca; E., Alfei; S., D'Arrigo; C., Pantaleoni; S., Beri; V., Achille; F. L., Sciacca; Pramparo, Tiziano; Zuffardi, Orsetta; Ciccone, Roberto
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 1-gen-2008 E., Rossi; A. P., Verri; M. G., Patricelli; V., Destefani; I., Ricca; Vetro, Annalisa; Ciccone, Roberto; R., Giorda; D., Toniolo; P., Maraschio; O., Zuffardi
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 1-gen-2008 Rossi, Elena; Verri, Ap; Patricelli, Mg; Destefani, V; Ricca, Ivana; Vetro, Annalisa; Ciccone, Roberto; Giorda, R; Toniolo, D; Maraschio, Paola; Zuffardi, Orsetta
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. 1-gen-2008 T., Pramparo; M. d., Gregori; S., Gimelli; Ciccone, Roberto; D., Frondizi; T., Liehr; S., Pellacani; G., Masi; P., Brovedani; O., Zuffardi; R., Guerrini
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. 1-gen-2008 Pramparo, T; DE GREGORI, M; Gimelli, S; Ciccone, Roberto; Frondizi, D; Liehr, T; Pellacani, S; Masi, G; Brovedani, P; Zuffardi, Orsetta; Guerrini, R.
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications 1-gen-2008 Bonaglia, Mc; Giorda, R; Massagli, A; Galluzzi, R; Ciccone, Roberto; Zuffardi, Orsetta
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications. 1-gen-2009 M. C., Bonaglia; R., Giorda; A., Massagli; R., Galluzzi; Ciccone, Roberto; O., Zuffardi
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 1-gen-2007 Zuffardi, Orsetta; Ciccone, Roberto; Cau, M; Addis, M; Congiu, R; Meloni, C; Cao, A; Santaniello, S; Loi, M; Emma, F; Sole, G; Melis, Ma
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 1-gen-2006 M., Cau; M., Addis; R., Congiu; C., Meloni; A., Cao; S., Santaniello; M., Loi; F., Emma; O., Zuffardi; Ciccone, Roberto; G., Sole; M. A., Melis
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. 1-gen-2008 Bovolenta, M; Neri, M; Fini, S; Fabris, M; Trabanelli, C; Venturoli, A; Martoni, E; Bassi, E; Spitali, P; Brioschi, S; Falzarano, Ms; Rimessi, P; Ciccone, Roberto; Ashton, E; Mccauley, J; Yau, S; Abbs, S; Muntoni, F; Merlini, L; Gualandi, F; Ferlini, A.
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. 1-gen-2008 M., Bovolenta; M., Neri; S., Fini; M., Fabris; C., Trabanelli; A., Venturoli; E., Martoni; E., Bassi; P., Spitali; S., Brioschi; M. S., Falzarano; P., Rimessi; Ciccone, Roberto; E., Ashton; J., Mccauley; S., Yau; S., Abbs; F., Muntoni; L., Merlini; F., Gualandi; A., Ferlini
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome 1-gen-2007 Addis, M.; Meloni, C.; Congiu, R.; Santaniello, S.; Emma, F.; Zuffardi, Orsetta; Ciccone, Roberto; Cao, A.; Melis, M. A.; Cau, M.
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome. 1-gen-2007 M., Addis; C., Meloni; R., Congiu; S., Santaniello; F., Emma; O., Zuffardi; Ciccone, Roberto; A., Cao; M. A., Melis; M., Cau
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. 1-gen-2008 Sharp, Aj; Mefford, Hc; Li, K; Baker, C; Skinner, C; Stevenson, Re; Schroer, Rj; Novara, F; DE GREGORI, M; Ciccone, Roberto; Broomer, A; Casuga, I; Wang, Y; Xiao, C; Barbacioru, C; Gimelli, G; Bernardina, Bd; Torniero, C; Giorda, R; Regan, R; Murday, V; Mansour, S; Fichera, M; Castiglia, L; Failla, P; Ventura, M; Jiang, Z; Cooper, Gm; Knight, Sj; Romano, C; Zuffardi, Orsetta; Chen, C; Schwartz, Ce; Eichler, Ee
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. 1-gen-2008 A. J., Sharp; H. C., Mefford; K., Li; C., Baker; C., Skinner; R. E., Stevenson; R. J., Schroer; F., Novara; M. D., Gregori; Ciccone, Roberto; A., Broomer; I., Casuga; Y., Wang; C., Xiao; C., Barbacioru; G., Gimelli; B. D., Bernardina; C., Torniero; R., Giorda; R., Regan; V., Murday; S., Mansour; M., Fichera; L., Castiglia; P., Failla; M., Ventura; Z., Jiang; G. M., Cooper; S. J., L; C., Romano; O., Zuffardi; C., Chen; C. E., Schwartz; E. E., Eichler
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease. 1-gen-2010 Sironi, F; Trotta, L; Antonini, A; Zini, M; Ciccone, Roberto; Della Mina, E; Meucci, N; Sacilotto, G; Primignani, P; Brambilla, T; Coviello, Da; Pezzoli, G; Goldwurm, S.
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease. 1-gen-2010 F., Sironi; L., Trotta; A., Antonini; M., Zini; Ciccone, Roberto; E. D., Mina; N., Meucci; G., Sacilotto; P., Primignani; T., Brambilla; D. A., Coviello; G., Pezzoli; S., Goldwurm
Breakpoint determination of 15 large deletions in Peuts-Jeghers subjects. 1-gen-2010 Resta, N; Giorda, R; Bagnuolo, R; Beri, S; Mina, Ed; Stella, A; Piglionica, M; Susca, Fc; Guanti, G; Zuffardi, Orsetta; Ciccone, Roberto