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Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
Nikopoulos K, Farinelli P, Giangreco B, Tsika C, Royer-Bertrand B, Mbefo MK, Bedoni N, Kjellström U, El Zaoui I, Di Gioia SA, Balzano S, Cisarova K, Messina A, Decembrini S, Plainis S, Blazaki SV, Khan MI, Micheal S, Boldt K, Ueffing M, Moulin AP, Cremers FPM, Roepman R, Arsenijevic Y, Tsilimbaris MK, Andréasson S, Rivolta C. Nikopoulos K, et al. Among authors: rivolta c. Am J Hum Genet. 2016 Sep 1;99(3):770-776. doi: 10.1016/j.ajhg.2016.07.009. Am J Hum Genet. 2016. PMID: 27588451 Free PMC article.
Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing.
Royer-Bertrand B, Torsello M, Rimoldi D, El Zaoui I, Cisarova K, Pescini-Gobert R, Raynaud F, Zografos L, Schalenbourg A, Speiser D, Nicolas M, Vallat L, Klein R, Leyvraz S, Ciriello G, Riggi N, Moulin AP, Rivolta C. Royer-Bertrand B, et al. Among authors: rivolta c. Am J Hum Genet. 2016 Nov 3;99(5):1190-1198. doi: 10.1016/j.ajhg.2016.09.008. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745836 Free PMC article.
Conjunctival Melanoma Targeted Therapy: MAPK and PI3K/mTOR Pathways Inhibition.
El Zaoui I, Bucher M, Rimoldi D, Nicolas M, Kaya G, Pescini Gobert R, Bedoni N, Schalenbourg A, Sakina E, Zografos L, Leyvraz S, Riggi N, Rivolta C, Moulin AP. El Zaoui I, et al. Among authors: rivolta c. Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2764-2772. doi: 10.1167/iovs.18-26508. Invest Ophthalmol Vis Sci. 2019. PMID: 31247083
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.
Nikopoulos K, Cisarova K, Quinodoz M, Koskiniemi-Kuendig H, Miyake N, Farinelli P, Rehman AU, Khan MI, Prunotto A, Akiyama M, Kamatani Y, Terao C, Miya F, Ikeda Y, Ueno S, Fuse N, Murakami A, Wada Y, Terasaki H, Sonoda KH, Ishibashi T, Kubo M, Cremers FPM, Kutalik Z, Matsumoto N, Nishiguchi KM, Nakazawa T, Rivolta C. Nikopoulos K, et al. Among authors: rivolta c. Nat Commun. 2019 Jun 28;10(1):2884. doi: 10.1038/s41467-019-10746-4. Nat Commun. 2019. PMID: 31253780 Free PMC article.
220 results