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Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene.
Ali E, Ferraro RM, Guglielmi A, Lanzi G, Masneri S, Piovani G, Mazzoldi EL, Pollara L, Valente EM, Accorsi P, Giordano L, Giliani SC. Ali E, et al. Among authors: valente em. Stem Cell Res. 2021 Jul;54:102430. doi: 10.1016/j.scr.2021.102430. Epub 2021 Jun 16. Stem Cell Res. 2021. PMID: 34182252 Free article.
Patient-derived cellular models of primary ciliopathies.
Pollara L, Sottile V, Valente EM. Pollara L, et al. Among authors: valente em. J Med Genet. 2022 Jun;59(6):517-527. doi: 10.1136/jmedgenet-2021-108315. Epub 2022 Feb 19. J Med Genet. 2022. PMID: 35184035 Review.
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.
Nuovo S, Fuiano L, Micalizzi A, Battini R, Bertini E, Borgatti R, Caridi G, D'Arrigo S, Fazzi E, Fischetto R, Ghiggeri GM, Giordano L, Leuzzi V, Romaniello R, Signorini S, Stringini G, Zanni G, Romani M, Valente EM, Emma F. Nuovo S, et al. Among authors: valente em. Nephrol Dial Transplant. 2020 Jul 1;35(7):1195-1202. doi: 10.1093/ndt/gfy333. Nephrol Dial Transplant. 2020. PMID: 30403813 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. Among authors: valente em. 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.
361 results