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Monday 3.12.2007 (4/07)
CEINGE Biotecnologie Avanzate
Via Comunale Margherita 482 - Naples
Coordinator: Prof. Romano Tenconi - University of Padova
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PROGRAM |
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10:45
Communications and comment about the 2007 SIGU meeting (R. Tenconi, PD)
11:00
Seminars:
- Genetic components of asthma (G. Malerba, VR)
- TBX1 and DiGeorge syndrome(A. Baldini, NA)
12:30
Ongoing projects:
- Italian Microdeletion/microduplication Project (C. Romano, Troina)
Educational
- Gestaltic test of malformation syndromes (M. Priolo, RC)
13:00
Light lunch
13:40
Papers in press
Array-CGH in epilepsy and neuronal migration defects (F. Novara, PV)
14:10
Paper submitted and last minute
Clinical criteria for the Zappella variant of the Rett syndrome (preserved
speech variant) (F. Mari, SI)
download file pdf
14.30 |
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Follow-up of previously presented cases:
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Presented by |
Diagnostic suspicion |
Discussant |
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A. Fabretto (A. Amoroso, Trieste) |
Mowat-Wilson s.? presented on 6th
December 2004
by S. Bertok (A. Amoroso, Trieste) |
M. L. Giovannucci |
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Presentation and discussion of
new cases:
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Presented by |
Diagnostic suspicion |
Discussant |
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M. Priolo (Reggio Calabria) |
Chromosomal/genomic anomaly? |
R. Tenconi |
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L. Salviati (R. Tenconi, Padova) |
CHARGE/VACTERL? |
M. Priolo |
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A. Marozza (A. Renieri, Siena) |
Pitt-Hopkins s.? |
M. Della Monica |
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M. Della Monica (G. Scarano, Benevento) |
Hennekam Lymphagiectasia-lymphedema s.? |
C. Romano |
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17.00
Closing session |