|
10:45
Opening, short communications & election of Clinical Genetics coordinator
(R. Tenconi, Padova)
11:15
Seminars:
- Hereditary metabolic disorders: from clinics to molecular diagnosis.
Cardiomiopathies as an example (E. Zammarchi, M. Donati, A. Morrone,
Firenze)
- Phenotype and genotype correlation in Argininosuccinic aciduria: a yeast
model (E. Trevisson, Padova).
12:45
New and ongoing projects:
- Pericentrinopathies (L. Chessa, Roma)
- Glossary of phenotypic anomalies: the ear (M.
Della Monica, Benevento)
Ongoing projects:
Educational:
- Medical Genetics as an European Medical speciality (A. Renieri, Siena)
13:30
Lunch
14:00
Papers submitted/in press
- Diverse driving forces underlie the invariant occurrence of the T42A,
E139D, I282V and T468M SHP2 amino acid substitutions
causing Noonan and LEOPARD syndromes (M. Tartaglia, ISS Roma)
- A recurrent microdeletion syndrome with a candidate gene for epilepsy
(C. Romano, Troina)
14:20
|