The University of Siena PhD Course in
Genetics, Oncology and Clinical Medicine


PhD Graduate

Ariele SPANHOL ROSSETO

PhD Program years: 2006 - 2010







PUBLICATIONS DURING THE PHD PROGRAM
  1. 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.
    J Med Genet. 2010 Jan;47(1):49-53

  2. FOXG1 is responsible for the congenital variant of Rett syndrome.
    Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A.
    Am J Hum Genet. 2008 Jul;83(1):89-93
ABSTRACTS OF CONFERENCE DURING THE PHD PROGRAM

1) Geni Modificatori nella Sindrome di Rett (X congresso nazionale SIGU, Montecatini Terme, 14-16 novembre 2007)

2) Male Rett Syndrome patient with mosaic MECP2 mutation (World Rett Syndrome congress, Parigi, 10-13 ottobre 2008)

3) Il gene FOXG1 è responsabile della variante congenita della sindrome di Rett (Congresso nazionale SIGU Genova, 23-25 novembre 2008)

4) FOXG1 is responsible for the Congenital Variant of Rett Syndrome (ASHG, Philadelphia, 11-15 novembre 2008)

5) Congenital Rett Syndrome Variant (World Rett Syndrome congress, Parigi, 10-13 ottobre 2008)

6) Diagnostic flow-chart for Rett syndrome (1st European Congress on Rett Syndrome, Milano, 5-7 giugno 2009)

7) Congenital variant of Rett syndrome due to the FOXG1 gene (ESHG ,Vienna, 23-26 maggio 2009)

8) 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, 14-17 ottobre 2010)

9) Induced pluripotent stem cells as a human model to study disease mechanisms in Rett syndrome. (2nd European Rett syndrome Conference, Edinburgh, 7-10 ottobre 2010)

10) FOXG1 mutation leading to reduced chromatin affinity causes "Rett fruste" overlapping with EHMT1 phenotype. (2nd European Rett syndrome Conference, Edinburgh, 7-10 ottobre 2010)

11) A novel mild phenotype associated with FOXG1 gene. (ESHG 2010, Gothenburg, 12-15 giugno 2010)

ACTIVITY DURING THE PHD PROGRAM

TRAINING PERIOD ABROAD
  • Andrea Superti-Furga Lab, Department of Pediatrics, University of Freiburg, Germany
    2010: three months