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Titolo Data di pubblicazione Autore(i) File
Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described cases. 1-gen-2008 S., Tempesta; D., Sollima; S., Ghezzo; V., Politi; B., Sinigaglia; F., Balducci; B., Celso; A., Restuccia; M., Stefani; R., Cernetti; C., Marzocchi; Ciccone, Roberto; O., Zuffardi; L., Bovicelli; L., Santarini
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly. 1-gen-2008 Ginocchio, Vm; De Brasi, D; Genesio, R; Ciccone, Roberto; Gimelli, S; Fimiani, F; de Berardinis, T; Nitsch, L; Banfi, S; Magli, A; Della Casa, R.
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
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. 1-gen-2008 Bonaglia, M. C.; Ciccone, Roberto; Gimelli, G.; Gimelli, S.; Marelli, S.; Verheij, J.; Giorda, R.; Grasso, R.; Borgatti, R.; Pagone, F.; Rodrìguez, L.; Martinez Frias, M.; Ravenswaaij, C. v.; Zuffardi, O.
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. 1-gen-2008 B. W. M., ; Koolen, D. A.; Borgatti, R.; Magee, A.; Garcia Minaur, S.; Rooms, L.; Reardon, W.; Zollino, M.; Bonaglia, M. C.; Gregori, M. D.; Novara, F.; Grasso, R.; Ciccone, Roberto; Van, H. A.; Aalbers, A. M.; Guerrini, R.; Fazzi, E.; Nillesen, W. M.; Mccullough, S.; Kant, S. G.; Marcelis, C. L.; Pfundt, R.; Leeuw, N. d.; Smeets, D.; Sistermans, E. A.; Wit, J. M.; Hamel, B. C.; Brunner, H. G.; Kooy, F.; Zuffardi, O.; B. B. A.,
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. 1-gen-2008 C., Torniero; B. D., Bernardina; F., Novara; R., Cerini; C., Bonaglia; T., Pramparo; Ciccone, Roberto; R., Guerrini; O., Zuffardi
Evolutionary and clinical neocentromeres: two faces of the same coin? 1-gen-2008 Capozzi, O; Purgato, S; VERDUN DI CANTOGNO, L; Grosso, E; Ciccone, Roberto; Zuffardi, Orsetta; DELLA VALLE, G; Rocchi, M.
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.
Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease? 1-gen-2008 Rizzolio, F; Bione, S; Sala, C; Tribioli, C; Ciccone, Roberto; Zuffardi, Orsetta; DI IORGI, N; Maghnie, M; Toniolo, D.
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant. 1-gen-2008 M. C., Bonaglia; R., Giorda; S., Beri; G. B., Peters; E. P., Kirk; D., Hung; Ciccone, Roberto; G., Gottardi; O., Zuffardi
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 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 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
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. 1-gen-2008 Koolen, Da; Sharp, Aj; Hurst, Ja; Firth, Hv; Knight, Sj; Goldenberg, A; SAUGIER VEBER, P; Pfundt, R; Vissers, Le; Destrée, A; Grisart, B; Rooms, L; VAN DER AA, N; Field, M; Hackett, A; Bell, K; Nowaczyk, Mj; Mancini, Gm; Poddighe, Pj; Schwartz, Ce; Rossi, Elena; DE GREGORI, Manuela; ANTONACCI FULTON, Ll; MCLELLAN MD, Nd; Garrett, Jm; Wiechert, Ma; Miner, Tl; Crosby, S; Ciccone, Roberto; Willatt, L; Rauch, A; Zenker, M; Aradhya, S; Manning, Ma; Strom, Tm; Wagenstaller, J; KREPISCHI SANTOS, Ac; VIANNA MORGANTE, Am; Rosenberg, C; Price, Sm; Stewart, H; SHAW SMITH, C; Brunner, Hg; Wilkie, Ao; Veltman, Ja; Zuffardi, Orsetta; Eichler, Ee; DE VRIES, Bb
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
Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood. 1-gen-2009 F., Novara; S., Beri; M. E., Bernardo; Bellazzi, Riccardo; A., Malovini; Ciccone, Roberto; A. M., Cometa; Locatelli, Franco; R., Giorda; O., Zuffardi
Inverted duplications deletions: underdiagnosed rearrangements?? 1-gen-2009 O., Zuffardi; M., Bonaglia; Ciccone, Roberto; R., Giorda
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. 1-gen-2009 Clayton Smith, J; Walters, S; Hobson, E; Burkitt Wright, E; Smith, R; Toutain, A; Amiel, J; Lyonnet, S; Mansour, S; Fitzpatrick, D; Ciccone, Roberto; Ricca, Ivana; Zuffardi, Orsetta; Donnai, D.
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. 1-gen-2009 J., Clayton Smith; S., Walters; E., Hobson; E., Burkitt Wright; R., Smith; A., Toutain; J., Amiel; S., Lyonnet; S., Mansour; D., Fitzpatrick; Ciccone, Roberto; I., Ricca; O., Zuffardi; D., Donnai
Inverted duplications deletions: underdiagnosed rearrangements?? 1-gen-2009 Zuffardi, Orsetta; Bonaglia, M; Ciccone, Roberto; Giorda, R.
Mostrati risultati da 41 a 60 di 106
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