2002 Strasbourg - European Society of Human Genetics

ESHG - Scientific Programme
Monday, May 27, 2002
Time Room Erasme Room Schuman Room Tivoli
16.30
–
18.00
Symposium S 4:
CNS function in man and model
organisms
Chair: N.N.
16.30 S11. The search for autism
susceptibility genes
A. Monaco
17.00 S12. C. elegans: an animal model for
high-throughput functional genomics
R. Baumeister
17.30 S13. Proteolysis and Alzheimer‘s
disease
C. Haass
Symposium S 5:
Molecular karyotyping
Chair: G.J. van Ommen and N.
Tommerup
S14. Molecular karyotyping and
array CGH
P. Lichter
S15. Multicolor FISH in two and
three-dimensions
M. R. Speicher, J. Kraus, R.
Gangnus, C. Maierhofer, I.
Jentsch, S. Langer, G. Lederer, C.
Keri, C. Fauth
S16. Measuring gene dosage
by multiplex amplifiable probe
hybridization
J. A. L. Armour, E. J. Hollox
17.50 S17. Multiplex PCR of Short
Fluorescent Fragments: a simple,
fast and reliable method for
the detection of heterozygous
genomic rearrangements
T. Frebourg, F. Charbonnier, F.
Casilli, G. Raux, P. Saugier-Veber,
N. Drouot, M. Tosi
15
Symposium S 6:
Skin deep: from skin disease to
immunity
Chair: A. Munnich and D. Donnai
S18. Junctional Epidermolysis
Bullosa: clinical and molecular
features
A. Hovnanian
S19. Toward Gene Therapy of
Junctional Epidermolysis Bullosa
(JEB)
M. De Luca, E. Dellambra, G.
Pellegrini, L. Guerra, S. Bondanza,
F. Mavilio
S20. Anhidrotic ectodermal
dysplasia with immunodeficiency
is associated with genetic defects
in the NF-kB pathway
J. L. Casanova