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Monday 23.06.2008 (2/08)
Aula Magna Presidenza Medicina
Ospedale Careggi, Firenze
Coordinator: Prof. Romano Tenconi - University of Padova
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PROGRAM |
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10:45
Opening, short communications
(R. Tenconi, Padova)
11:15
Seminars:
- Mitochondrial morphology and human diseases. The role of Mitofusin-2 (O.
Martins de Brito, L. Scorrano, Padova)
- Renal tubular acidosis, distal: clinical & genetic analysis of Italian
cases (S. Giglio, Firenze)
12:45
New and ongoing projects:
- Glossary of phenotypic anomalies:
the external ear. Can we get started? (M. Della Monica, Benevento)
- Pericentrinopaty project (L. Chessa, Roma; M. Della Monica, Benevento)
Educational
DYSCERNE: ready to start (R. Tenconi/B. Dallapiccola, Roma
13:15
Lunch
13:45
Updating:
- DECIPHER (DatabasE of Chromosomal Imbalance and Phenotype in Humans
using Ensembl Resources) Hinxton symposium (Chromosomal analysis vs MPLA
telomers vs Array) (E. Katzaki, Siena)
- ESHG Conference, Barcelona (31/05-3/06/2008) (A. Renieri, Siena)
14:15
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Follow-up of previously presented cases:
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Presented by |
Diagnostic suspicion |
Discussant |
K. Ludwig, (R. Tenconi, Padova)
A. Bonfante (Bassano del Grappa) |
De Lange s.?
presented on
June 5th, 2006 |
A. Selicorni |
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Presentation and discussion of
new cases:
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Presented by |
Diagnostic suspicion |
Discussant |
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L. Garavelli (Reggio Emilia) |
Pitt-Hopkins s.? |
M. Zollino |
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M. Bertoli (G. Novelli, Roma) |
Short stature and developmental delay |
E. Tarantino |
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S. Marelli (R. Borgatti, Bosisio Parini) |
Lujan-Fryns s.?Lujan-Fryns s.? |
E. Lapi |
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M.F. Bedeschi (F. Lalatta, Milano) |
Noonan and peripheral neuropathy |
C. Romano |
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M. Pollazzon (A. Renieri, Siena) |
Angelman s.? |
R. Tenconi |
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M. Cassina (R. Tenconi, Padova) |
Skeletal dysplasia? |
G. Scarano |
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17.00
End of meeting |