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Monday
19.12.2005 (4/05)
Aula
Magna
Azienda Ospedaliera Universitaria Anna Meyer -
Firenze
Coordinator: prof. Romano Tenconi -
University of Padova
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PROGRAM |
10.45
Italian Clinical Genetics: where are we going (R. Tenconi)
New general regulations of the Specialization Schools (M. Genuardi)
11.15
Seminars:
- Hereditary plastocytopenias (A. Savoia, Trieste)
download ppt file
- Isolated and syndromic retinal degenerations (C. Graziano, Bologna)
download ppt file
12.45
Present projects
- XLMR Italian Network. Proposal of assent to the Medical Sequencing
program NIH (http://www.genome.gov/15014882)
(A. Renieri, Siena)
- Glossary of dysmorphic signs. We started it (A. Baroncini)
13.15
Lunch break
14.30
Proposal:
- Master in Clinical Genetics (M. Priolo, Reggio Calabria)
15.15
Clinical cases presentation and discussion:
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| Speaker |
Case |
Cospeaker |
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| S. Marelli (R. Borgatti, Bosisio Parini) |
Angelman s.? |
C. Williams (Florida, USA) |
| E. Andreucci (S. Giglio, Firenze) |
Teebi Hypertelorism s.? |
A. Battaglia (Pisa) |
| L. Garavelli (Reggio Emilia) |
Marden-Walker s.? |
C. Romano (Troina) |
| G. Cocchi (Bologna) |
Macrocephaly-MR |
A. Baroncini (Imola) |
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16.15
Document about Clinical Genetics activities
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Methodology of diagnostic approach to the clinical case (discussion on
the document recently invoid) (G. Scarano, C. Romano, A. Renieri, O.
Zuffardi, R. Tenconi)
17.00
Closing session |