2005 Prague - European Society of Human Genetics

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European Society of Human Genetics EUROPEAN HUMAN GENETICS CONFERENCE 2005 Prague Congress Center Prague, Czech Republic Saturday, May 7 – Tuesday May 10, 2005 Final Programme and Abstracts www.eshg.org/eshg2005
Table of Contents Welcoming Address ................................................................................................................................................... 3 Acknowledgements ................................................................................................................................................... 4 Committees, Boards .................................................................................................................................................. 5 Floor Plan of the KCP - Prague Congress Centre ..................................................................................................... 6 The Programme at a Glance ..................................................................................................................................... 8 Scientific Programme - Saturday, May 7, 2005 .......................................................................................................................................... 10 - Sunday, May 8, 2005 ............................................................................................................................................. 11 - Monday, May 9, 2005 ............................................................................................................................................ 14 - Tuesday, May 10, 2005 ......................................................................................................................................... 17 Workshop Descriptions ............................................................................................................................................ 20 Satellite Meetings .................................................................................................................................................... 21 Business Meetings .................................................................................................................................................. 24 Poster Topics ........................................................................................................................................................... 25 Scientific Programme Information – Awards ............................................................................................................ 26 Information General Information ................................................................................................................................................. 27 Registration fees ..................................................................................................................................................... 30 Social Events ........................................................................................................................................................... 30 Exhibition Information .............................................................................................................................................................. 31 Exhibitors ................................................................................................................................................................. 32 Exhibition Floor Plan ............................................................................................................................................... 32 Exhibitor Listing ....................................................................................................................................................... 35 Abstracts Abstracts .................................................................................................................................................................. 54 Plenary Lectures ....................................................................................................................................................... 54 Concurrent Symposia ................................................................................................................................................ 56 Late Breaking Research ............................................................................................................................................ 61 Concurent Sessions .................................................................................................................................................. 62 Posters .......................................................................................................................................................................... Po01. Clinical genetics .............................................................................................................................................. 80 Po02. Cytogenetics ................................................................................................................................................. 140 Po03. Prenatal diagnosis ........................................................................................................................................ 168 Po04. Cancer genetics ............................................................................................................................................ 185 Po05. Molecular and biochemical basis of disease, and molecular diagostics ....................................................... 213 Po06. Genetic analysis, linkage, and association ................................................................................................... 297 Po07. Normal variation, population genetics, genetic epidemiology ....................................................................... 338 Po08. Genomics, technology, gene function, bioinformatics ................................................................................... 357 Po09. Genetic counselling, education, genetic services, and public policy ............................................................. 372 Po10. Therapy for genetic disease .......................................................................................................................... 384 Author Index ........................................................................................................................................................... 388 Keyword Index ........................................................................................................................................................ 416 2
Page 1: The Official Journal of the Europea
Page 5 and 6: Acknowledgements 4 The European Hum
Page 7 and 8: Floor Plan Ground Floor First Floor
Page 9 and 10: Programme at a Glance Saturday, May
Page 11 and 12: Scientific Programme Saturday, May
Page 13 and 14: Scientific Programme Sunday, May 8,
Page 15 and 16: Scientific Pogramme Monday, May 9,
Page 17 and 18: ESHG Scientific Pogramme - Tuesday,
Page 19 and 20: Scientific Pogramme Tuesday, May 10
Page 21 and 22: Workshops As submitted by the organ
Page 23 and 24: Satellite Meetings Sunday, 8 May 20
Page 25 and 26: Business and Adjunct Meetings As pe
Page 27 and 28: Scientific Information - Awards The
Page 29 and 30: General Information Lunch and Refre
Page 31 and 32: Registration Fees Payment Received:
Page 33 and 34: Exhibition Floor Plan Company name
Page 35 and 36: Exhibitors by Stand Number Stand Co
Page 37 and 38: Exhibitors Listing AGOWA Gesellscha
Page 39 and 40: Exhibitors Listing BIOLOGICAL INDUS
Page 41 and 42: Exhibitors Listing Deerac Fluidics
Page 43 and 44: Exhibitors Listing ESHG - European
Page 45 and 46: Exhibitors Listing Gentra Systems S
Page 47 and 48: Exhibitors Listing Invitrogen Stand
Page 49 and 50: Exhibitors Listing MP Biomedicals S
Page 51 and 52: Exhibitors Listing ParAllele BioSci
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Exhibitors Listing SoftGenetics LLC
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Plenary Lectures Abstracts PL01. Ga
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Concurrent Symposia genes furthers
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Concurrent Symposia S09. Immunohist
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Concurrent Symposia S21. Ultraconse
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Concurrent Sessions the “introduc
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Concurrent Sessions (HFE, hemojuvel
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Concurrent Sessions generation fami
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Concurrent Sessions 5 The KORA grou
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Concurrent Sessions exons from two
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Concurrent Sessions C43. Interstiti
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Concurrent Sessions genetic testing
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Concurrent Sessions syndrome phenot
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Concurrent Sessions C68. Gene expre
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Posters apoE genotype in the model
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Clinical genetics caused by the hom
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Clinical genetics for the disease,
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Clinical genetics examination, he h
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Clinical genetics P0037. A diagnosi
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Clinical genetics processes, genera
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Clinical genetics analysis can be a
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Clinical genetics chromosome 18p an
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Clinical genetics 3 months with int
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Clinical genetics P0084. Intracrani
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Clinical genetics P0094. The Freque
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Clinical genetics Detailed clinical
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Clinical genetics P0113. Short stat
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Clinical genetics P0122. Interleuki
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Clinical genetics P0132. The molecu
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Clinical genetics remains unknown.
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Clinical genetics P0150. A boy with
Page 115 and 116:
Clinical genetics musculoskeletal s
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Clinical genetics cleft soft palate
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Clinical genetics coarse facial fea
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Clinical genetics rearrangements or
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Clinical genetics More than 70 case
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Clinical genetics and the gray matt
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Clinical genetics stains, left-side
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Clinical genetics shiver and hypert
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Clinical genetics suggests it may b
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Clinical genetics remains underdiag
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Clinical genetics acid exchange in
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Clinical genetics as being clinical
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Clinical genetics controversial all
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Cytogenetics The clinical symptoms
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Cytogenetics uniparental disomy pre
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Cytogenetics analysis because of po
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Cytogenetics So, the diagnosis of F
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Cytogenetics Y have been identified
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Cytogenetics P0328. Cytogenetic stu
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Cytogenetics and confirmed by Inter
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Cytogenetics P0347. A complex chrom
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Cytogenetics Estimates of unbalance
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Cytogenetics P0365. A cytogenetic a
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Cytogenetics P0375. Two patients of
Page 163 and 164:
Cytogenetics t(4p;8p) (5 cases), t(
Page 165 and 166:
Cytogenetics from the grandparent.
Page 167 and 168:
Cytogenetics used as markers for ep
Page 169 and 170:
Prenatal diagnosis P0411. Chromosom
Page 171 and 172:
Prenatal diagnosis prenatal diagnos
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Prenatal diagnosis P0429. Character
Page 175 and 176:
Prenatal diagnosis us to perform th
Page 177 and 178:
Prenatal diagnosis P0447. Prenatal
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Prenatal diagnosis P0456. Study of
Page 181 and 182:
Prenatal diagnosis other groups. (m
Page 183 and 184:
Prenatal diagnosis P0474. The analy
Page 185 and 186:
Prenatal diagnosis may be critical
Page 187 and 188:
Cancer genetics same protein. Our r
Page 189 and 190:
Cancer genetics DCC) it seems to ac
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Cancer genetics Western Societies.
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Cancer genetics 98% vs. 98% and 2%
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Cancer genetics Overexpression of S
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Cancer genetics challenges for the
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Cancer genetics a rapid and a non-r
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Cancer genetics In single high risk
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Cancer genetics Conclusions: This e
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Cancer genetics growth rates and re
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Cancer genetics the other gene. We
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Cancer genetics MCR regions). The B
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Cancer genetics spontaneous mitoses
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Cancer genetics P0610. Genomic inst
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Molecular and biochemical basis of
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Genetic analysis, linkage, and asso
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Normal variation, population geneti
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Genomics, technology, gene function
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Genetic counselling, education, gen
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Therapy for genetic disease This wa
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Therapy for genetic disease P1403.
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Author Index A A.D.H. French Res. N
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Author Index 390 Behunova, J. P0014
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Author Index 392 Castro, M. P1067,
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Author Index 394 Dessay, B. P0787 D
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Author Index 396 Frayling, I. P1380
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Author Index 398 Hausmanowa-Petruse
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Author Index 400 Kaya, H. P0545 Kay
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Author Index 402 Lembo, G. P1095 Le
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Author Index 404 Mercader, J. M. S1
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Author Index 406 O'Neill, B. P. P14
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Author Index 408 P0946, P0951, P095
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Author Index 410 Semrád, B. P0831
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Author Index 412 P1309 Taylor, B. P
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Author Index Viot, G. B. P0443 Vipr
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Keyword Index 416 1 10-mer oligonuc
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Keyword Index 418 carcinoma cell li
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Keyword Index 420 DJ-1: P0672 D-Loo
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Keyword Index 422 hemophilia A: P09
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Keyword Index 424 Methylmalonic aci
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Keyword Index 426 Pink1: P0998 pirf
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Keyword Index 428 subtelomeric dele
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Notes 430
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Notes 432
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2005 Prague - European Society of Human Genetics

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