2002 Strasbourg - European Society of Human Genetics

ESHG - Scientific Programme
Sunday, May 26, 2002
Time Room Erasme Time Room Schuman Room Tivoli
14.30
–
16.00
Concurrent Session C 3:
Molecular Genetics 1: Mental
Retardation
Chair: J.L. Mandel
14.30 C13. Neuronal intranuclear inclusions
in a new cerebellar tremor/ataxia
syndrome among fragile X carriers
P. J. Hagerman, C. M. Greco, F.
Tassone, A. Chudley, M. R. Del Bigio,
S. Jacquemont, M. Leehey, R. J.
Hagerman
14.45 C14. The European XLMR
consortium: goals, achievements and
future prospects
B. C. J. Hamel
14.55 C15. Mutations of the human ortholog
of Aristaless cause X-linked mental
retardation and epilepsy.
P. Stromme, M. E. Mangelsdorf, M.
A. Shaw, K. M. Lower, S. M. S. Lewis,
H. Bruyere, V. Lutcherath, A. K.
Gedeon, R. H. Wallace, I. E. Scheffer,
G. Turner, M. Partington, S. Frints, J.
Fryns, G. R. Sutherland, J. C. Mulley,
J. Gecz
15.05 C16. ARX, a novel prd-classhomeobox
gene highly expressed in
the telencephalon, is mutated in Xlinked
mental deficiency
T. Bienvenu, K. Poirier, L. Ben Jeema,
V. Desportes, C. Moraine, H. van
Bokhoven, V. Kalscheuer, S. Frinyts,
J. Gecz, H. Chaabouni, J. P. Fryns, C.
Beldjord, J. Chelly
15.15 C17. Identification of a new MRX
gene
I. Meloni, M. Muscettola, M. Raynaud,
I. Longo, M. Bruttini, M. Moizard, M.
Gomot, J. Chelly, V. des Portes, J.
Fryns, H. Ropers, B. Magi, C. Bellan,
N. Volpi, H. G. Yntema, S. E. Lewis, J.
E. Schaffer, A. Renieri
15.25 C18. Mutations in the Creatine
Transporter Gene (SLC6A8) in Xq28
Cause X-Linked Mental Retardation:
The Important Role of Creatine
Metabolism in Brain Function
C. E. Schwartz, K. A. Hahn, G. S.
Salomons, D. Tackels-Horne, T. C.
Wood, H. A. Taylor, R. J. Schroer, H.
A. Lubs, C. Jakobs, R. L. Olson, K. R.
Holden, R. E. Stevenson
15.35 C19. Mutation In Neurotrypsin
is Responsible For Autosomal
Recessive Non-specific Mental
Retardation
F. Molinari, M. Rio, A. Munnich, L.
Colleaux
16.00
–
16.30
14.30
–
16.00
Concurrent Session C 1:
Prenatal Diagnosis and
Genetic Services
Chair: J. Zaremba, I. Nisand
14.30 C01. Human Dignity: In Danger
of Banality?
B. Knoppers
14.45 C02. Prenatal diagnosis (PND)
in adult-onset disorders: survey
of cases and attitudes in
Portugal.
J. Sequeiros, J. Rocha, J.
Pinto-Basto, J. Leal Loureiro, T.
Coelho, A. Lopes
15.00 C03. External quality
assessment in genetic testing
reveals patterns of errors
S. Patton, R. Elles, D. Barton,
E. Dequeker, C. Mueller,
M. Losekoot, B. Bakker, B.
Rautenstrauss, M. Simoni,
V. Biancalana, P. Vogt, M.
Voelckel, D. Lohmann
15.15 C04. Mendelian Cytogenetics
Network database (MCNdb):
New improved version.
K. R. Rasmussen, C.
Lundsteen, H. Ropers, N.
Tommerup
15.30 C05. A real time quantitative
PCR test for trisomy 21
B. Zimmermann, W. Holzgreve,
F. Wenzel, S. Hahn
15.45 C06. A telomere depletion
assay for non-invasive prenatal
diagnosis
M. A. Hulten, S. Dhanjal
Coffee / Poster viewing / Exhibition
Concurrent Session C 2
Complex diseases
Chair: M. Devoto, A. Read
C07. Mutations of the RET / GDNF
/ HASH1 signalling pathway in
congenital central hypoventilation
syndrome (CCHS, Ondine‘s curse)
L. de Pontual, V. Nepote, T. Attié-
Bitach, H. Trang, M. Simonneau,
M. Vekemans, A. Munnich, C.
Gaultier, S. Lyonnet, J. Amiel
11
C08. A rare RET haplotype acts as
risk-modifier allele in Hirschsprung
disease.
P. Griseri, B. Pesce, G. Patrone, F.
Puppo, M. Sancandi, J. Osinga, R.
Hofstra, M. Devoto, R. Ravazzolo, I.
Ceccherini
C09. Meta-analysis of Celiac
Disease genome screens
M. C. Babron, F. Clerget-Darpoux,
H. Ascher, P. Ciclitira, J. Partanen,
L. M. Sollid, L. Greco
C10. Genetic Dissection of the
HLA Region using Haplotypes of
Tasmanians with Multiple Sclerosis
J. P. Rubio, M. Bahlo, H.
Butzkueven, I. A. F. van der Mei, M.
M. Sale, J. L. Dickinson, P. Groom,
L. J. Johnson, R. D. Simmons, B.
Tait, M. Varney, B. Taylor, T. Dwyer,
R. Williamson, N. M. Gough, T. J.
Kilpatrick, T. P. Speed, S. J. Foote
C11. Genetic epidemiology of
carotid artery thickness in type 2
diabetes families of the Diabetes
Heart Study
D. W. Bowden, C. D. Langefeld, L.
A. Lange, L. E. Wagenknecht, J. J.
Carr, B. I. Freedman, S. S. Rich
C12. Comparison of strategies to
detect the role of a candidate gene
A. Jannot, L. Essioux, M. G. Reese,
F. Clerget-Darpoux