University of Siena
Department of Medical Biotechnologies
Department of Medical Biotechnologies
PhD Programme in
Genetics, Oncology and Clinical Medicine
International Cooperation Agreements
INTERNATIONAL COOPERATION AGREEMENTS
Cemic University Hospital, Buenos Aires, Argentina agreement
Bethlehem University, Bethlehem, Palestine agreement
Hospital Universitario Da Coruna, A Coruna, Spain agreement
Greenwood Genetic Center, Greenwood, South Carolina, USA agreement
Radboud University of Njimegen, The Netherlands agreement
Lausanne University, Switzerland agreement
Bilkent University, Ankara, Turkey agreement
Duisburg-Essen Univeristy, Germany agreement
Freiburg University, Germany agreement
St. Kilment Ochridski University, Sofia, Bulgaria agreement
University of California, Davis, USA agreement
TEACHER EXCHANGE
Year 2006
1 teacher, Alessandra Renieri, outgoing to Bilkent University, Ankara, Turkey
Year 2007
1 teacher, Franca Cambi, incoming from University of Kentucky, Lexington, USA
1 teacher, Francesca Mari outgoing to Universität Freiburg, Freiburg, Germany
Year 2008
2 teachers, Andrea Superti-Furga and Sheila Unger incoming from Universität Freiburg, Freiburg, Germany
1 teacher, Francesca Mari outgoing to Universität Freiburg, Freiburg, Germany
1 teacher, Han Brunner, incoming from Radboud University, Nijmegen, The Netherlands
Year 2009
1 teacher, Han Brunner, incoming from Radboud University, Nijmegen, The Netherlands
1 teacher, Franca Cambi, incoming from University of Kentucky, Lexington, USA
STUDENT EXCHANGE
Year 2007
1 student, Mariangela Amenduni, outgoing to Radboud University, Nijmegen, The Netherlands
1 student al Medical School, Giulio Di Santo, outgoing to University of Kentucky, Lexington, USA
Year 2008
1 student, Rosangela Artuso outgoing to Radboud University, Nijmegen, The Netherlands
Year 2010
1 student, Ariele Spanhol Rosseto outgoing to Universität Freiburg, Freiburg, Germany
1 student, Filomena Tiziana Papa, outgoing to University of Kentucky, Lexington, USA
SEMINARS
- 23/5/2002 X-linked Mental Retardation Genes: Why Is The Easy Part So Hard? (C Schwartz from Greenwood Genetic Center - JC Self Research Institute, South Carolina, USA)
- 19/05/2006 Rett syndrome and related disorders (T. Ozçelik, from Bilkent University, Ankara, Turkey)
- 21/12/2007 Tight regulation of the alternative splicing of myelin proteolipid protein is necessary for brain development and function: evidence from human disease and a novel mouse model (F. Cambi from University of Kentucky, Lexington, USA)
- 07/01/2008 Syndrome families: genotypes and phenotypes (H. Brunner from University, Nijmegen, The Netherlands)
- 08/01/2008 Making a clinical diagnosis (H. Brunner)
- 14/07/2008 Il network ESDN (European Skeletal Dysplasia Network) come esempio di biobanca virtuale e il suo ruolo nella ricerca sulle displasie scheletriche (A. Superti-Furga from Universität Freiburg, Freiburg, Germany)
- 14/07/2008 Skeletal disorders: classification (A. Superti-Furga)
- 15/07/2008 Letal Skeletal Dysplasia (A. Superti-Furga,)
- 16/07/2008 Skeletal disorders: differential diagnosis by X-Ray (A. Superti-Furga,)
- 17/07/2008 Osteochondrodyplasias (A. Superti-Furga)
- 18/07/2008 Osteochondrodyplasias (A. Superti-Furga)
- 12/03/2008 Aspetti legislativi e di etica nelle biobanche (A. Superti-Furga)
- 11/03/2008 Cosa sono le biobanche - organizzazione delle biobanche e ruolo del laboratorio (A. Superti-Furga)
- 09/03/2008 Aspetti della ricerca biomedica e clinica legati a materiali biologici (A. Superti-Furga)
- 12/03/2008 Organizzazione delle biobanche e ruolo del laboratorio (A. Superti-Furga)
- 14/07/2008 A virtual image biobank and its diagnostic use for genetic skeletal disorders (A. Superti-Furga)
- 15/07/2008 Differential diagnosis of skeletal dysplasias in the fetus and newborn (A. Superti-Furga)
- 16/07/2008 Molecular nosology and gene families in genetic disorders of the skeleton (A. Superti-Furga,)
- 16/07/2008 ESDN network (S. Unger from Universität Freiburg, Freiburg, Germany)
- 29/12/2008 Le atassie cerebellari cerebellari: dalla clinica alla genetica (F. Cambi from University of Kentucky, Lexington, USA)
- 30/09/2009 Origins of mental retardation across species: clinical, molecular and functional characterizazion of Euchromatin Histone Methyltransferase 1 mutations (H. Van Bokhoven Radboud University, Nijmegen, The Netherlands)
- 22/07/2009 Clinical Features and Molecular Genetics of Hereditary Spinocerebellar Ataxia (F. Cambi, from University of Kentucky, Lexington, USA)
CONFERENCES
- 6/3/2008 Women in Science at IRUN Meeting (Alessandra Renieri, at Radboud University, Nijmegen, The Netherlands)
- 7/3/2008 Rett syndrome and related disorders (Alessandra Renieri, at Radboud University, Nijmegen, The Netherlands)
PUBBLICATIONS
- Garavelli L, Wischmeijer A, Rosato S, Gelmini C, Reverberi S, Sassi S, Ferrari A, Mari F, Zabel B, Lausch E, Unger S, Superti-Furga A. Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: Genetic homogeneity and nosological delineation. Am J Med Genet A. 2010 Dec 22.
- Mari F, Hermanns P, Giovannucci-Uzielli ML, Galluzzi F, Scott D, Lee B, Renieri A, Unger S, Zabel B, Superti-Furga A. Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis. Eur J Hum Genet. 2009 Sep;17(9):1141-7.
- 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. Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome. Am J Hum Genet. 2010 Feb 12;86(2):254-61.
- Rodriguez JD, Bhat SS, Meloni I, Ladd S, Leslie ND, Doyne EO, Renieri A, Dupont BR, Stevenson RE, Schwartz CE, Srivastava AK. Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3. Am J Med Genet A. 2010 Mar;152A(3):713-7.
RESEARCH PROJECTS
Title: Congenital limb defects in children: essay of a novel clarification and elucidation of the molecular bases
Source: Deutscher Akademischer Austauschdienst (DAAD) - Program “Germania - Borse di studio per professori universitari e ricercatori”
Period: 3 months 2008
Teacher: Dott. Francesca Mari
For outgoing to Universität Freiburg, Freiburg, Germany
Source: CEE, Erasmus program
Period: 6 months 2008
PhD Student: Dott Rosangela Artuso
For outgoing to Radboud University, Nijmegen, The Netherlands
Title: Regulation of the alternative splicing of myelin proteolipid protein
Period: 3 months 2009
Student: Giulio Di Santo
For outgoing to University of Kentucky, Lexington, USA
Source: European Molecular Biology Organisation (EMBO) Short Term Fellowship Programme
Period: 3 months 2010
PhD Student: Dott. Ariele Rosseto
For outgoing to Universität Freiburg, Freiburg, Germany
PhD THESIS DISSERTATION BOARD
Teacher: Hans Van Bokhoven from Radboud University, Nijmegen, The Netherlands
Date: 27-6-2006
Title of the thesis: “Genomic deletions in patients with complex phenotype: from cytogenetics to array-CGH"
PhD student: Chiara Pescucci cycle XVII
Qualification of Doctor Europaeus: yes
Teacher: Hans Van Bokhoven from Radboud University, Nijmegen, The Netherlands
Date: 27-6-2006
Title of the thesis: "Molecular defect in MECP2-negative Rett patients"
PhD student: Francesca Ariani cycle XVIII
Qualification of Doctor Europaeus: yes
Teacher: Hans Van Bokhoven from Radboud University, Nijmegen, The Netherlands
Date: 1-10-2009
Title of the thesis: “Strategies for identification of new mental retardation genes”,
PhD student: Rosangela Artuso, XXI cycle
Qualification of Doctor Europaeus: yes
Teacher: Hans Van Bokhoven from Radboud University, Nijmegen, The Netherlands
Date: 1-10-2009
Title of the thesis: “Clinical impact of contemporary molecular cytogenetics”
PhD student: Eleni Katzaki, XXI cycle
Qualification of Doctor Europaeus: yes