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1) The
Italian Rett Syndrome Biobank and Database
(6th Rett Syndrome Congress, Parigi, Francia, 10-13/10/2008)
2) Il gene ACSL4
è importante nell'architettura delle spine (SIGU2008, Genova,
Italia, 23-25/11/2008)
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Functional characterization of the X-linked mental retardation gene
ACSL4 (ASHG, Philadelphia, USA, 11-15/11/2008)
3)
Functional characterization of the X-linked mental retardation gene
ACSL4 (ESHG, Barcellona, Spagna, 31/05/2008- 03/06/2008)
4)
Diagnostic flow-chart for Rett syndrome (1st European Congress on
Rett Syndrome, Milano, Italia, 5-7/6/2009)
5) 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, 14-17/10/2010)
6)
Induced pluripotent stem cells as a human model to study disease
mechanisms in Rett syndrome. (2nd European Rett syndrome Conference
, Edinburgh, Scotland, 7-10/10/2010)
7)
FOXG1 mutation leading to reduced chromatin affinity causes "Rett fruste"
overlapping with EHMT1 phenotype. (2nd European Rett syndrome
Conference, Edinburgh, Scotland, 7-10/10/2010)
8) A
novel mild phenotype associated with FOXG1 gene (ESHG 2010,
Gothenburg, Sweden, 12-15/6/2010)
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