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Molecular and clinical characterization of albinism in a large cohort of Italian patients.
Gargiulo A, Testa F, Rossi S, Di Iorio V, Fecarotta S, de Berardinis T, Iovine A, Magli A, Signorini S, Fazzi E, Galantuomo MS, Fossarello M, Montefusco S, Ciccodicola A, Neri A, Macaluso C, Simonelli F, Surace EM. Gargiulo A, et al. Among authors: macaluso c. Invest Ophthalmol Vis Sci. 2011 Mar 14;52(3):1281-9. doi: 10.1167/iovs.10-6091. Print 2011 Mar. Invest Ophthalmol Vis Sci. 2011. PMID: 20861488 Free PMC article.
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.
Stem cells as source for retinal pigment epithelium transplantation.
Bertolotti E, Neri A, Camparini M, Macaluso C, Marigo V. Bertolotti E, et al. Among authors: macaluso c. Prog Retin Eye Res. 2014 Sep;42:130-44. doi: 10.1016/j.preteyeres.2014.06.002. Epub 2014 Jun 13. Prog Retin Eye Res. 2014. PMID: 24933042 Free article. Review.
77 results