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Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts.
Della Mina E, Borghesi A, Zhou H, Bougarn S, Boughorbel S, Israel L, Meloni I, Chrabieh M, Ling Y, Itan Y, Renieri A, Mazzucchelli I, Basso S, Pavone P, Falsaperla R, Ciccone R, Cerbo RM, Stronati M, Picard C, Zuffardi O, Abel L, Chaussabel D, Marr N, Li X, Casanova JL, Puel A. Della Mina E, et al. Among authors: ciccone r. Proc Natl Acad Sci U S A. 2017 Jan 24;114(4):E514-E523. doi: 10.1073/pnas.1620139114. Epub 2017 Jan 9. Proc Natl Acad Sci U S A. 2017. PMID: 28069966 Free PMC article.
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
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.
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
104 results