2002 Strasbourg - European Society of Human Genetics

ESHG - Scientific Programme
Tuesday, May 28, 2002
Time Room Erasme Room Schuman Room Tivoli
10.45
–
12.15
Concurrent Session C 8:
Clinical Genetics 2
Chair: H. Brunner and J. Zaremba
10.45 C44. Long-Term Efficacy and Safety
of Enzyme Replacement Therapy in
Fabry Disease
D. P. Germain, L. Caplan, C. M. Eng,
N. Guffon, P. Lee, G. Linthorst, S.
Waldeck, W. R. Wilcox, R. J. Desnick
11.00 C45. Genotype-phenotype
relationships in Berardinelli-Seip
congenital lipodystrophy
L. Van Maldergem, J. Magré, T.
Gedde-Dahl Jr, E. Khallouf, M.
Lathrop, J. Capeau, S. O‘Rahilly,. and
the Berardinelli-Seip Group
11.15 C46. Lamin A/C mutations in Charcot-
Marie-Tooth disorder identify a novel
laminopathy in human and mouse
N. Levy, A. De Sandre-Giovannoli,
M. Chaouch, S. Kozlov, J. Vallat, M.
Tazir, N. Kassouri, P. Szepetowski, T.
Hammadouche, I. Boccaccio, D. Grid,
C. L. Stewart
11.30 C47. Mutational Spectrum in the
PEX7 Gene and Functional Analysis
of Mutant Alleles in 78 Patients
with Rhizomelic Chondrodysplasia
Punctata Type 1
H. R. Waterham, A. Motley, P. Brites,
L. Gerez, E. Hogenhout, J. Haasjes,
R. Benne, H. F. Tabak, R. J. A.
Wanders
11.45 C48. Mutations in DNAH5 cause
primary ciliary dyskinesia and
randomization of left-right asymmetry
H. Olbrich, K. Häffner, K. Andreas, A.
Völkel, G. Sasmaz, R. Reinhardt, S.
Hennig, H. Lehrach, N. Konietzko, M.
Zariwala, P. G. Noone, M. Knowles,
H. M. Mitchison, M. Meeks, E. M. K.
Chung, F. Hildebrandt, R. Sudbrak, H.
Omran
12.00 C49. Maternal apo E genotype is a
modifier of the Smith-Lemli-Opitz
Syndrome.
M. Witsch-Baumgartner, M. Gruber,
P. Clayton, N. Clusellas, D. Haas,
R. Kelley, M. Giros, H. Kraft, M.
Krajewska-Walasek, G. Utermann
12.15
–
13.00
Concurrent Session C 7:
Cancer Genetics
Chair: C. Bonaïti
C38. Implication of 9p21
deletion in 1p/19q-deleted
oligodendrogliomas
C. Godfraind, E. Rousseau, M.
Ruchoux, F. Scaravilli, M. Vikkula
C39. Cyclin L/Ania-6a, a Gene
located at 3q25, is amplified and
overexpressed in a Head and
Neck Cancer Cell Line.
R. Redon, T. Hussenet, K. Caulee,
D. Muller, J. Abecassis, S. du
Manoir
C40. Functional analysis of
MMR gene mutations linked
to hereditary non-polyposis
colorectal cancer
M. Nyström-Lahti, R. Kariola, T.
Raevaara, K. Lönnqvist
C41. CHK2 1100delC is a
low penetrance breast cancer
susceptibility allele in non-carriers
of BRCA1 or BRCA2 mutations
N. Rahman, H. Meijers-Heijboer,
M. Schutte, N. Sodha, D. F.
Easton, M. R. Stratton and
the Breast Cancer Linkage
Consortium
C42. Heterozygosity for the
NBS founder mutation in cancer
patients of Czech origin.
E. Seemanová, P. Jarolím, J.
Janda, J. Koutecký, J. Starý, P.
Seeman, R. Varon, K. Sperling
C43. BCR/ABL D-FISH should
be a mandatory examination for
primary diagnosis of CML
H. C. Duba, T. Kühr, A. Mehringer,
M. Erdel, G. Utermann, J. Thaler
Lunch Boxes (provided free of charge) / Poster viewing / Exhibition
17
Concurrent Session C 9:
Gene Function & Large-scale
Analyses
Chair: Karl-Heinz Grzeschik and
Thierry Frebourg
C50. Knockout mice carrying a
deletion of the Mental Retardation
gene Gdi1 show impaired
associative memory and altered
social behavior
D. Toniolo, P. D‘Adamo, H. Welzl,
H. Lipp, P. Chapman, C. Tiveron,
D. Bottai, F. Valtorta, F. Valtorta, F.
Valtorta, F. Valtorta
C51. The role of different mutations
found in Opitz BBB/G syndrome
patients on MID1 protein function
S. Schweiger, A. Trockenbacher, T.
Lehmann, J. Winter, V. Suckow, S.
Krauß, F. Majewski, J. L. Whittaker,
H. H. Ropers, R. Schneider
C52. ATRX and CBP gene
silencing in human neuronal
precursor cells by RNA interference
F. Megiorni, P. Indovina, B. Mora,
M. Mazzilli
C53. Transcriptome and
Transcriptosomes: Gene
Expression Analysis in Human
Autosomal Aneuploidy
D. R. FitzPatrick, N. McGill, M.
Shade, A. Carothers, N. Hastie
C54. Expression Atlas of the
mouse orthologues of the human
chromosome 21 genes
A. Reymond, V. Marigo, M.
Yaylaoglu, A. Leoni, C. Ucla, N.
Scamuffa, S. Banfi, R. Lyle, C.
Caccioppoli, G. Eichele, S. E.
Antonarakis, A. Ballabio
C55. Human mitochondrial DNA
diversity in the Near and Middle
East and in northeastern Africa: a
phylogeographic approach
E. Metspalu, M. Reidla, J. Parik, T.
Kivisild, K. Tambets, E. Usanga, R.
Villems