2005 Prague - European Society of Human Genetics

ESHG Scientific Pogramme - Monday, June 14, 2004
Monday, May 9, 2005
Time Congress Hall Meeting Hall I Panorama Hall Meeting Hall IV
15.00
-
16.30
Concurrent Session C6 -
Genomics and bioinformatics
Chair: K.-H. Grzeschik
15.00 C31. Detection of large-scale copy
number polymorphisms in the human
genome
C. Lee, A. J. Iafrate, L. Feuk, M. N.
Rivera, Y. Qi, S. W. Scherer, M. L.
Listewnik
15.15 C32. Identification of submicroscopic
DNA alterations in mental
retardation using whole genome
tiling-resolution arrayCGH
B. B. A. De Vries, R. Pfundt, M.
Leisink, D. A. Koolen, L. E. L. M.
Vissers, N. De Leeuw, D. Smeets,
E. Sistermans, A. Geurts van
Kessel, E. F. P. M. Schoenmakers,
H. G. Brunner, J. A. Veltman
15.30 C33. Interchromosomal segmental
duplications of the pericentromeric
region on the human Y chromosome
S. Kirsch, B. Weiß, T. L. Miner,
R. H. Waterston, R. A. Clark, E. E.
Eichler, C. Münch, W. Schempp,
G. Rappold
15.45 C34. Natural antisense transcripts
(NATs) associated with genes
involved in eye development
S. Banfi, G. Alfano, C. Vitiello,
T. Caramico, A. Carola, C.
Caccioppoli, M. Szego, R. R.
McInnes, A. Auricchio
16.00 C35. Dissection of gene regulatory
networks in liver cells using
chromatin immunoprecipitation and
high resolution genomic arrays of
the ENCODE regions.
C. Wadelius, A. Rada Iglesias, O.
Wallerman, C. Koch, G. Clelland,
K. Wester, S. Wilcox, O. M. Dovey,
P. D. Ellis, V. L. Wraight, K. James,
R. Andrews, J. Komorowski, C.
Langford, N. Carter, D. Vetrie, F.
Pontén, I. Dunham
16.15 C36. Identification of miRNA on
chromosome 21.
C. Borel, C. Tapparel, E. T.
Dermitzakis, A. Kouranov, A. G.
Hatzigeorgiou, S. E. Antonarakis
16.30
-
17.00
Concurrent Session C7 -
Complex Genetics II
Chair: C. van Duijn
C37. Whole Genome Genotyping
(WGG) on High Density DNA
BeadArrays.
K. L. Gunderson, F. J. Steemers,
K. Kuhn, G. Lee, H. Ren, L. Zhou,
P. Ng, C. King, C. Tsan, W. Chang,
D. Bullis, J. Musmacker, M. S.
Chee, D. Barker, A. Oliphant, R.
Shen
*C38. Disentangling linkage disequilibrium
and linkage from dense
trio SNP data
G. M. Clarke, L. R. Cardon*
*C39. A 2-locus TDT for testing
gene-gene interaction: Application
to the study of HLA-DRB1 and
CTLA4 in Multiple Sclerosis
S. Kotti, M. Bourgey, H. Mohamdi,
E. Génin, F. Clerget-Darpoux*
C40. Multivariate linkage analysis
of specific language impairment
E. J. Banfield, The SLI
Consortium
*C41. Chromosome 6p22 risk
haplotype for dyslexia is associated
with a reduced expression of
KIAA0319 gene
S. Paracchini, R. Wade-Martins,
B. J. Keating, T. Caffrey, C.
Francks, J. C. Knight, A. P.
Monaco*
C42. The molecular basis of autoimmunity:
using celiac disease as
a model to unravel common pathogenic
pathways using a functional
genomics approach
C. Wijmenga, A. Monsuur, E.
van Oort, M. Bevova, L. Franke,
A. Zhernakova, B. Diosdado, M.
Wapenaar
Coffee / Poster Viewing / Exhibiton
Concurrent Session C8 - Clinical
Genetics II
Chair: H. Kääriäinen
C43. Interstitial deletion of chromosome
9q22.32-q22.33: a novel
cause of syndromic overgrowth
R. Redon, G. Baujat, D. Sanlaville,
M. Le Merrer, M. Vekemans, N. P.
Carter, A. Munnich, L. Colleaux, V.
Cormier-Daire
C44. Pulmonary function abnormalities
in children with osteogenesis
imperfecta correlate with OI type
and location of collagen mutation.
A. Flor-Cisneros, H. Chaney, J.
Vojtova, J. C. Marini
C45. Brain malformations in
oculocerebrocutaneous syndrome
(OCCS)
U. Moog, M. C. Jones, L. Bird, W.
B. Dobyns
C46. Carbohydrate-deficient glycoprotein
syndrome type Ia : clinical
expression in 19 patients older
than 12 years
D. Héron, J. Albuisson, V. Cormier-
Daire, V. Drouin, C. Leanerts, J.
Marchais, C. de Barace, P. Khau
Van Kien, M. Mayer, G. Ponsot,
J. Saudubray, H. Ogier, A. Brice,
N. Seta
*C47. Congenital myopathy and
brain migration defects with cutis
laxa and a combined defect of
glycan biosynthesis
S. Wopereis, H. ter Laak,
M. Willemsen, R. Wevers, S.
Gruenewald, E. Morava*
*C48. Birt-Hogg-Dubé syndrome in
Dutch families
E. M. Leter, K. Koopmans, J. J. P.
Gille, E. H. Jaspars, E. F. L. David,
E. A. J. M. de Jong, P. E. Postmus,
M. E. Craanen, R. A. Manoliu, T. M.
Starink, F. H. Menko*
15
Concurrent Session C9 - Genetic
counselling and genetic services
Chair: P. Gasparini
*C49. Ethics and Genetics: An
Islamic Perspective
A. I. Al-Aqeel*
C50. Towards cultural competence
in cancer genetic counselling and
genetics education: lessons learnt
from Chinese-Australians.
K. K. Barlow-Stewart, S. Yeo,
M. Eisenbruch, B. Meiser, D.
Goldstein, K. Tucker
C51. Psychosocial impact of genetic
counseling and testing for breast
and ovarian cancer susceptibility
genes.
V. Franková, M. Havlovicová, V.
Krutílková, A. Puchmajerová, M.
Korán, P. Goetz
C52. Genotype-based screening
for hereditary haemochromatosis
in Germany
M. Stuhrmann, C. Strassburg, I.
Nippert, J. Schmidtke
*C53. Athlete’s heart or hypertrophic
cardiomyopathies
M. Tagliani, M. Pasotti, C.
Lucchelli, E. Porcu, E. Disabella,
N. A. Marsan, A. Repetto, C.
Campana, G. Magrini, F. Gambarin,
M. Grasso, L. Tavazzi, E. Arbustini*
C54. Genetics education and
general practice: impact of an
intervention
S. A. Metcalfe, A. Flouris, M.
Aitken, J. Wallace, C. Gaff