Elisa GRILLO 

PhD Program years: 2009 - 2013

1. Investigation of modifier genes within copy number variations in Rett syndrome.
Artuso R, Papa FT, Grillo E, Mucciolo M, Yasui DH, Dunaway KW, Disciglio V, Mencarelli MA, Pollazzon M, Zappella M, Hayek G, Mari F, Renieri A, Lasalle JM, Ariani F.
J Hum Genet. 2011 Jul;56(7):508-15. doi: 10.1038/jhg.2011.50. Epub 2011 May 19. Erratum in: J Hum Genet. 2012 May;57(5):342-4.
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics.

2. De Filippis R, Pancrazi L, Bjørgo K, Rosseto A, Kleefstra T, Grillo E, Panighini A, Cardarelli F, Meloni I, Ariani F, Mencarelli M, Hayek J, Renieri A, Costa M, Mari F.
Clin Genet. 2011 Nov 17.

3. Rett networked database: an integrated clinical and genetic network of Rett syndrome databases.
Grillo E, Villard L, Clarke A, Ben Zeev B, Pineda M, Bahi-Buisson N, Hryniewiecka-Jaworska A, Bienvenu T, Armstrong J, Martinez AR, Mari F, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Mejaški Bošnjak V, Polgár N, Cogliati F, Ravn K, Pintaudi M, Melegh B, Craiu D, Djukic A, Renieri A.
Hum Mutat. 2012 Jul;33(7):1031-6. doi: 10.1002/humu.22072. Epub 2012 Apr 13.

4. Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing
E. Grillo, C. Lo Rizzo, L.Bianciardi, V. Bizzarri, M. Baldassarri, O. Spiga, S. Furini, C. De Felice, C. Signorini, S. Leoncini, A. Pecorelli, L. Ciccoli, M.A. Mencarelli, J. Hayek, I. Meloni, F. Ariani, F. Mari, A. Renieri
PLoS One. 2013;8(2):e56599.

1. Mutazioni in FOXG1 che causano ridotta affinità per la cromatina, sono responsabili della sindrome di Rett nella variante "Rett-fruste" con fenotipo sovrapponibile a quello da mutazione in EHMT1. (SIGU 2010, Firenze, Italia, 14-17 ottobre 2010)
   
   
2. Induced pluripotent stem cells as a human model to study disease mechanisms in Rett syndrome. (2nd European Rett syndrome Conference, Edinburgh, Scotland, 7-10 ottobre 2010)
   
   
3. FOXG1 mutation leading to reduced chromatin affinity causes "Rett fruste" overlapping with EHMT1 phenotype. (2nd European Rett syndrome Conference, Edinburgh, Scotland, 7-10 ottobre 2010)

      4. HLA genes in the susceptibility to Rett syndrome E. Dametto, A.P. Petta Bika, M. Boetto, S. Rendine, M.E. Fasano, F. Bertinetto,              E. Grillo, M.A. Mencarelli, G. Livide, F. Ariani, A. Renieri and A. Amoroso The Joint 16th International HLA and Immunogenetics            Conference/26th European Immunogenetics and Histocompatibility Conference/23rd British Society of Histocompatibilty and            Immunogenetics Conference Liverpool - 28 May-3 June 2012.

       5. ESHG Norimberga 23-26/06/2012 “Rett Database Network: an integrated clinical and genetic network of Rett syndrome                  databases”

        6. IRSF New Orleans 24/06/2012 “Rett Database Network: an integrated clinical and genetic network of Rett syndrome                         databases”

        7. IRSF “Exome sequencing in two couplet of discordant Rett girls” Giugno 2012

        8. SIGU 13-16/11/2011 “Rett Database Network: an integrated clinical and genetic network of Rett syndrome databases”

        9. Comunicazione orale AIR- Napoli 18-19/05/2012 “Exome sequencing in Rett patients”

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