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


PhD Graduate

Mariangela AMENDUNI 

PhD Program years: 2007- 2011







PUBLICATIONS DURING THE PHD PROGRAM

    1) Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.
    Iqbal Z, Cejudo-Martin P, de Brouwer A, van der Zwaag B, Ruiz-Lozano P, Scimia MC, Lindsey JD, Weinreb R, Albrecht B, Megarbane A, Alanay Y, Ben-Neriah Z, Amenduni M, Artuso R, Veltman JA, van Beusekom E, Oudakker A, Millán JL, Hennekam R, Hamel B, Courtneidge SA, van Bokhoven H.
    Am J Hum Genet. 2010 Feb 12;86(2):254-61. Epub 2010 Feb 4.

    2) Array comparative genomic hybridization in retinoma and retinoblastoma tissues.
    Sampieri K, Amenduni M, Papa FT, Katzaki E, Mencarelli MA, Marozza A, Epistolato MC, Toti P, Lazzi S, Bruttini M, De Filippis R, De Francesco S, Longo I, Meloni I, Mari F, Acquaviva A, Hadjistilianou T, Renieri A, Ariani F.
    Cancer Sci. 2009 Mar;100(3):465-71. Epub 2009 Jan 29.

ABSTRACTS OF CONFERENCE DURING THE PHD PROGRAM


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) 

ACTIVITY DURING THE PHD PROGRAM

TRAINING PERIOD ABROAD
  • Hans Van Bokhoven Lab, Neurogenetics & Molecular Neurobiology, Department of Human Genetics, University of Nijmegen, The Netherlands
    2007: 3 months