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PROGRAM
10.45
- Welcome by E. Tarantino & P. Simi
(Pisa)
- Communications (R. Tenconi, Padova)
11:00
Seminars:
- Micro-RNA in human diseases (S. Landi, Pisa)
ppt file
-
Genetics of SCA in Italy (A. Brusco, Torino)
ppt file
Bringing up to date:
- De Lange syndrome seems to be due to the expression levels of several
genes (A. Musio, Pisa)
ppt file
13.10
Break
13:30
- Ongoing projects:
- Glossary of phenotypic anomalies (M. Della Monica, Benevento)
Papers in press/submitted (Italian collaborative studies)
- a new gene (SHOC2) of the neuro-cardio-facial-cutaneous family (Nature
Genetics, online 16 August 2009),
- a new previously undescribed syndrome dup(X)(p11.22-p11.23) (AJHG,
online 27 August 2009)
ppt file
14:15
Dysmorphology pitfalls in adult patients
- Suspicious of del(9q): no diagnosis would be made (even with a-CGH)
without the parent's examination and a long clinical follow-up (F. Mari, Siena)
ppt file
- Diagnostic odyssey ends with the diagnosis made by the patient’s
sister (E. Tarantino, Pisa). And more…
doc file
Follow-up of previously presented cases:
| Presented by |
Diagnostic suspicion |
Discussant |
| M. Della Monica (G. Scarano, Benevento) |
Dubowitz s.?
presented on 5 June 2006 |
D. Milani (Milano) |
Presentation and discussion of new cases:
17.00
Closing session
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