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Reproducibility of Molecular Phenotypes after Long-Term Differentiation to Human iPSC-Derived Neurons: A Multi-Site Omics Study.
Volpato V, Smith J, Sandor C, Ried JS, Baud A, Handel A, Newey SE, Wessely F, Attar M, Whiteley E, Chintawar S, Verheyen A, Barta T, Lako M, Armstrong L, Muschet C, Artati A, Cusulin C, Christensen K, Patsch C, Sharma E, Nicod J, Brownjohn P, Stubbs V, Heywood WE, Gissen P, De Filippis R, Janssen K, Reinhardt P, Adamski J, Royaux I, Peeters PJ, Terstappen GC, Graf M, Livesey FJ, Akerman CJ, Mills K, Bowden R, Nicholson G, Webber C, Cader MZ, Lakics V. Volpato V, et al. Among authors: de filippis r. Stem Cell Reports. 2018 Oct 9;11(4):897-911. doi: 10.1016/j.stemcr.2018.08.013. Epub 2018 Sep 20. Stem Cell Reports. 2018. PMID: 30245212 Free PMC article.
iPS cells to model CDKL5-related disorders.
Amenduni M, De Filippis R, Cheung AY, Disciglio V, Epistolato MC, Ariani F, Mari F, Mencarelli MA, Hayek Y, Renieri A, Ellis J, Meloni I. Amenduni M, et al. Among authors: de filippis r. Eur J Hum Genet. 2011 Dec;19(12):1246-55. doi: 10.1038/ejhg.2011.131. Epub 2011 Jul 13. Eur J Hum Genet. 2011. PMID: 21750574 Free PMC article.
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.
Mencarelli MA, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi-Buisson N, Nectoux J, Rubinsztajn R, Bienvenu T, Moncla A, Chabrol B, Villard L, Krumina Z, Armstrong J, Roche A, Pineda M, Gak E, Mari F, Ariani F, Renieri A. Mencarelli MA, et al. Among authors: de filippis r. J Med Genet. 2010 Jan;47(1):49-53. doi: 10.1136/jmg.2009.067884. Epub 2009 Jul 2. J Med Genet. 2010. PMID: 19578037
Array comparative genomic hybridization in retinoma and retinoblastoma tissues.
Sampieri K, Amenduni M, Papa FT, Katzaki E, Mencarelli MA, Marozza A, Epistolato MC, Toti P, Lazzi S, Bruttini M, De Filippis R, De Francesco S, Longo I, Meloni I, Mari F, Acquaviva A, Hadjistilianou T, Renieri A, Ariani F. Sampieri K, et al. Among authors: de francesco s, de filippis r. Cancer Sci. 2009 Mar;100(3):465-71. doi: 10.1111/j.1349-7006.2008.01070.x. Epub 2009 Jan 29. Cancer Sci. 2009. PMID: 19183342 Free article.
The XLMR gene ACSL4 plays a role in dendritic spine architecture.
Meloni I, Parri V, De Filippis R, Ariani F, Artuso R, Bruttini M, Katzaki E, Longo I, Mari F, Bellan C, Dotti CG, Renieri A. Meloni I, et al. Among authors: de filippis r. Neuroscience. 2009 Mar 17;159(2):657-69. doi: 10.1016/j.neuroscience.2008.11.056. Epub 2008 Dec 24. Neuroscience. 2009. PMID: 19166906
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium; Hurles M, Raymond FL. Grozeva D, et al. Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30. Hum Mutat. 2015. PMID: 26350204 Free PMC article.
175 results