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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” |