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XX males SRY negative: a confirmed cause of infertility.
Vetro A, Ciccone R, Giorda R, Patricelli MG, Della Mina E, Forlino A, Zuffardi O. Vetro A, et al. Among authors: ciccone r. J Med Genet. 2011 Oct;48(10):710-2. doi: 10.1136/jmedgenet-2011-100036. Epub 2011 Jun 7. J Med Genet. 2011. PMID: 21653197 Free PMC article.
MEF2C deletions and mutations versus duplications: a clinical comparison.
Novara F, Rizzo A, Bedini G, Girgenti V, Esposito S, Pantaleoni C, Ciccone R, Sciacca FL, Achille V, Della Mina E, Gana S, Zuffardi O, Estienne M. Novara F, et al. Among authors: ciccone r. Eur J Med Genet. 2013 May;56(5):260-5. doi: 10.1016/j.ejmg.2013.01.011. Epub 2013 Feb 10. Eur J Med Genet. 2013. PMID: 23402836
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.
De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previderé C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O. De Gregori M, et al. Among authors: ciccone r. J Med Genet. 2007 Dec;44(12):750-62. doi: 10.1136/jmg.2007.052787. Epub 2007 Aug 31. J Med Genet. 2007. PMID: 17766364 Free PMC article.
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.
Rossi E, Riegel M, Messa J, Gimelli S, Maraschio P, Ciccone R, Stroppi M, Riva P, Perrotta CS, Mattina T, Memo L, Baumer A, Kucinskas V, Castellan C, Schinzel A, Zuffardi O. Rossi E, et al. Among authors: ciccone r. J Med Genet. 2008 Mar;45(3):147-54. doi: 10.1136/jmg.2007.054007. Epub 2007 Nov 15. J Med Genet. 2008. PMID: 18006671 Free article.
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
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
105 results