DOCTORATE in GENETICS, ONCOLOGY and CLINICAL MEDICINE (GenOMeC)
DOTTORATO DI RICERCA IN GENETICA ONCOLOGIA E MEDICINA CLINICA

UNIVERSITA' DEGLI STUDI  DI SIENA

 

 

Abstracts of Conference during the PhD program

 
Amenduni Mariangela
 

1- A novel mild phenotype associated with FOXG1 gene (ESHG 2010, Gothenburg, Sweden, 12-15/6/2010)

2- 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)

3- 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).

4- MDM2 and p53 are modifier gene of retinoblastoma (ESHG 2010, Gothenburg, Sweden, 12-15/6/2010)

5- Ruolo dei polimorfismi dei geni MDM2 (SNP309T>G) e TP53 (R72P) nella modulazione della variabilità fenotipica del retinoblastoma (SIGU 2010, Firenze, Italia, 14-17/10/2010)

6- MS-MLPA to study the contribution of epigenetic silencing in Retinoblastoma. (ESHG 2009, Vienna, Austria, 23-26/5/2009)

7- Genomic differences between retinoma and retinoblastoma (ESHG, Barcellona, Spagna, 31/5/2008- 3/6/2008)

8- Somatic events in retinoma and retinoblastoma tissues. (International Symposium on Cancer genotypes and Cancer phenotypes, Firenze, Italia, 4-5/7/2008)

9- Somatic events in retinoma and retinoblastoma  (ASHG, Philadelphia, USA, 11-15/11/2008)