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Page 1
Reciprocal translocations: a trap for cytogenetists?
Ciccone R, Giorda R, Gregato G, Guerrini R, Giglio S, Carrozzo R, Bonaglia MC, Priolo E, Laganà C, Tenconi R, Rocchi M, Pramparo T, Zuffardi O, Rossi E. Ciccone R, et al. Hum Genet. 2005 Oct;117(6):571-82. doi: 10.1007/s00439-005-1324-x. Epub 2005 Jul 23. Hum Genet. 2005. PMID: 16041583
PRKACB and Carney complex.
Forlino A, Vetro A, Garavelli L, Ciccone R, London E, Stratakis CA, Zuffardi O. Forlino A, et al. Among authors: ciccone r. N Engl J Med. 2014 Mar 13;370(11):1065-7. doi: 10.1056/NEJMc1309730. Epub 2014 Feb 26. N Engl J Med. 2014. PMID: 24571725 No abstract available.
Inverted duplications: how many of them are mosaic?
Pramparo T, Giglio S, Gregato G, de Gregori M, Patricelli MG, Ciccone R, Scappaticci S, Mannino G, Lombardi C, Pirola B, Giorda R, Rocchi M, Zuffardi O. Pramparo T, et al. Among authors: ciccone r. Eur J Hum Genet. 2004 Sep;12(9):713-7. doi: 10.1038/sj.ejhg.5201240. Eur J Hum Genet. 2004. PMID: 15266302
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.
Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo L, Galesi O, Vetro A, Ciccone R, Bonati MT, Giglio S, Guerrini R, Osimani S, Marelli S, Zucca C, Grasso R, Borgatti R, Mani E, Motta C, Molteni M, Romano C, Greco D, Reitano S, Baroncini A, Lapi E, Cecconi A, Arrigo G, Patricelli MG, Pantaleoni C, D'Arrigo S, Riva D, Sciacca F, Dalla Bernardina B, Zoccante L, Darra F, Termine C, Maserati E, Bigoni S, Priolo E, Bottani A, Gimelli S, Bena F, Brusco A, di Gregorio E, Bagnasco I, Giussani U, Nitsch L, Politi P, Martinez-Frias ML, Martínez-Fernández ML, Martínez Guardia N, Bremer A, Anderlid BM, Zuffardi O. Bonaglia MC, et al. Among authors: ciccone r. PLoS Genet. 2011 Jul;7(7):e1002173. doi: 10.1371/journal.pgen.1002173. Epub 2011 Jul 14. PLoS Genet. 2011. PMID: 21779178 Free PMC article.
104 results