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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.
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.
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.
Della Mina E, Ciccone R, Brustia F, Bayindir B, Limongelli I, Vetro A, Iascone M, Pezzoli L, Bellazzi R, Perotti G, De Giorgis V, Lunghi S, Coppola G, Orcesi S, Merli P, Savasta S, Veggiotti P, Zuffardi O. Della Mina E, et al. Among authors: ciccone r. Eur J Hum Genet. 2015 Mar;23(3):354-62. doi: 10.1038/ejhg.2014.92. Epub 2014 May 21. Eur J Hum Genet. 2015. PMID: 24848745 Free PMC article.
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.
Vetro A, Iascone M, Limongelli I, Ameziane N, Gana S, Della Mina E, Giussani U, Ciccone R, Forlino A, Pezzoli L, Rooimans MA, van Essen AJ, Messa J, Rizzuti T, Bianchi P, Dorsman J, de Winter JP, Lalatta F, Zuffardi O. Vetro A, et al. Among authors: ciccone r. Hum Mutat. 2015 May;36(5):562-8. doi: 10.1002/humu.22784. Epub 2015 Apr 7. Hum Mutat. 2015. PMID: 25754594
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