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Bisphenol A and congenital developmental defects in humans.
Guida M, Troisi J, Ciccone C, Granozio G, Cosimato C, Di Spiezio Sardo A, Ferrara C, Guida M, Nappi C, Zullo F, Di Carlo C. Guida M, et al. Among authors: ciccone c. Mutat Res. 2015 Apr;774:33-9. doi: 10.1016/j.mrfmmm.2015.02.007. Epub 2015 Mar 6. Mutat Res. 2015. PMID: 25796969
Brain alteration in a Nude/SCID fetus carrying FOXN1 homozygous mutation.
Amorosi S, Vigliano I, Del Giudice E, Panico L, Maruotti GM, Fusco A, Quarantelli M, Ciccone C, Ursini MV, Martinelli P, Pignata C. Amorosi S, et al. Among authors: ciccone c. J Neurol Sci. 2010 Nov 15;298(1-2):121-3. doi: 10.1016/j.jns.2010.08.066. J Neurol Sci. 2010. PMID: 20864124
A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.
Cullinane AR, Curry JA, Carmona-Rivera C, Summers CG, Ciccone C, Cardillo ND, Dorward H, Hess RA, White JG, Adams D, Huizing M, Gahl WA. Cullinane AR, et al. Among authors: ciccone c. Am J Hum Genet. 2011 Jun 10;88(6):778-787. doi: 10.1016/j.ajhg.2011.05.009. Am J Hum Genet. 2011. Retraction in: Am J Hum Genet. 2017 May 4;100(5):837. doi: 10.1016/j.ajhg.2017.04.011 PMID: 21665000 Free PMC article. Retracted.
Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV, Vilboux T, Ciccone C, de Dios JK, Malicdan MC, Leoyklang P, McKew JC, Gahl WA, Carrillo-Carrasco N, Huizing M. Celeste FV, et al. Among authors: ciccone c. Hum Mutat. 2014 Aug;35(8):915-26. doi: 10.1002/humu.22583. Hum Mutat. 2014. PMID: 24796702 Free PMC article. Review.
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.
Vincent LM, Gilbert F, DiPace JI, Ciccone C, Markello TC, Jeong A, Dorward H, Westbroek W, Gahl WA, Bussel JB, Huizing M. Vincent LM, et al. Among authors: ciccone c. Mol Genet Metab. 2010 Sep;101(1):62-5. doi: 10.1016/j.ymgme.2010.05.015. Epub 2010 Jun 10. Mol Genet Metab. 2010. PMID: 20591709 Free PMC article.
72 results