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2003 Birmingham 11 S1 The Advanced DNA Banking and European Journal of Human Genetics Isolation Technology – IsoCode® IsoCode is optimized lyse Cells IsoCode is available To isolate DNA Standard Card and Stix archive DNA As ID with colour indicator prepare PCR IsoCode can be used high through-put format identification of individuals you want For population screening forensic testing paternity testing • Supplement 11 1 Volume Archiving DNA, cDNA Clones and Vectors The Official Journal of the European Society of Human Genetics Biological samples dried on IsoCode can be archived indefinitely at ambi- ent temperatures. IsoCode is bactericidal, virucidal, and fungicidal. Isolation of DNA without any reagents EUROPEAN HUMAN GENETICS CONFERENCE 2003 IsoCode binds and inactivates proteins and inhibitors – but not the DNA . DNA is released from IsoCode in a simple water elution process that MAY 3 – 6, 2003, BIRMINGHAM, ENGLAND requires neither reagents nor additional costs. PROGRAMME AND ABSTRACTS High quality DNA – easy and cheap DNA eluted from IsoCode is ready for PCR, automated DNA sequencing, STR analysis, mtDNA analysis and other bio-molecular techniques. Use in a lot of fields May 2003 Ideal for drug discovery SNP libraries, epide- miological studies, human identity appli- cations, forensic samples and as back-up copy. EHGC 2003 Booth 940 Volume 11 – Supplement 1 – May 2003 U.S. Pat. #5.939.259, U.S. Pat. 6.168.922 Made under license from Whatman plc. to U.S. Pat. #5.807.527 Schleicher & Schuell BioScience GmbH · Tel. +49-55 61-79 14 63 · Fax +49-55 61-79 15 83 · D-37582 Dassel · Germany · [email protected] Schleicher & Schuell BioScience Inc. · Tel. (603) 3 52-38 10 · Fax (603) 3 57-77 00 · Keene, N.H. · USA · [email protected] European Society of Human Genetics EUROPEAN HUMAN GENETICS CONFERENCE 2003 The International Convention Centre (ICC) Birmingham, England Saturday, May 3 – Tuesday, May 6, 2003 Final Programme and Abstracts www.eshg.org/eshg2003 Table of Contents 2 3 General Acknowledgements .....................................................................................................................................................3 Committees, Boards....................................................................................................................................................3 Welcoming Address.....................................................................................................................................................5 Floor Plan of the ICC...................................................................................................................................................6 The Programme at a Glance .......................................................................................................................................7 Scientific Programme - Saturday, May 3, 2003.............................................................................................................................................9 - Sunday, May 4, 2003 .............................................................................................................................................10 - Monday, May 5, 2003 ............................................................................................................................................13 - Tuesday, May 6, 2003............................................................................................................................................16 Poster Rounds...........................................................................................................................................................18 ESHG-Business Meetings.........................................................................................................................................19 Satellite Meetings ......................................................................................................................................................20 EAGS Annual Conference and Meeting....................................................................................................................22 Scientific Programme Information - Awards ..............................................................................................................23 Information General Information...................................................................................................................................................24 Birmingham City Map................................................................................................................................................26 Registration Fees ......................................................................................................................................................27 Social Events.............................................................................................................................................................27 Exhibition Exhibition Floor Plans................................................................................................................................................28 Exhibitors...................................................................................................................................................................29 Exhibitor Listing.........................................................................................................................................................32 Abstracts Abstracts....................................................................................................................................................................43 Author Index ............................................................................................................................................................261 Keyword Index.........................................................................................................................................................281 2 Acknowledgements 3 The European Human Genetics Conference gratefully acknowledges the support of the following compa- nies (list correct as per date of printing): • Abbott • Molecular Staging • Affymetrix • Nature Publishing Group • Agilent Technologies • Progeny Software • Amersham Biosciences • Pyrosequencing • Applied Biosystems • Schleicher & Schuell BioScience • Blackwell Publishing • Sciencecareers.org • DNA Research Innovations • TKT Europe 5S • Illumina Committees - Boards European Society of Human Genetics ESHG Office Executive Board 2002 - 2003 Scientific Programme Committee European Society of Human Genetics President: Chair: Clinical Genetics Unit Gert-Jan van Ommen Andrew P. Read Birmingham Women’s Hospital B15 2TG Birmingham, United Kingdom Vice-President: Members: Tel/Fax: +44 121 623 6830 Stylianos Antonarakis Han Brunner (Chair elect) email: [email protected] Francoise Clerget-Darpoux President-Elect: Dian Donnai Veronica Van Heyningen Cornelia van Duijn Karl-Heinz Grzeschik Secretary-General: Fiona Macdonald Peter Farndon Jean-Louis Mandel Andres Metspalu Deputy Secretary-General: Arnold Munnich Lisbeth Tranebjaerg Gudrun A. Rappold André Reis Local Host: Niels Tommerup Fiona Macdonald Gert-Jan van Ommen Orsetta Zuffardi European Human Genetics Conference 2003 Conference Organisation Exhibition, Sponsoring Hotel Accommodation and Abstract Management and Commercial Satellites EHGC 2003 Secretariat Rose International Birmingham Convention Bureau Mr. Jerome del Picchia Exhibition Management and Congress Millenium Point Vienna Medical Academy Consultancy Level L2 Alser Strasse 4 Ms. Jana Petrova Curzon Street 1090 Vienna, Austria P.O.Box 93260 Birmingham B4 7XG Tel: +43 1 405 13 83 22 2509 AG The Hague, The Netherlands Telephone: +44 121 202 5005 Fax: +43 1 407 82 74 Tel: +31 70 383 8901 Fax: +44 121 202 5123 Email: [email protected] Fax: +31 70 381 8936 e-mail: [email protected] Email: [email protected] Future European Human Genetics Conferences European Human Genetics Conference 2004 June 12 – 15, 2004 Munich, Germany European Human Genetics Conference 2005 Prague, Czech Republic May 2005 ������������������������������������������� 4 ����� �� ������ ����������� ��� ������������ �������� ��������������� ���������� ������������������������������������������������������������ ������������������������������������������������������������������ ������������������������������������������������������������������������� ������������������������������������������������� ���������� ������� ��������������������������������������������������������������������� ������������������������ ���� ������������� ������������������� ������������������������������ ����������������������������������������������������������������������������� ������������������������������������������ ���������������������������� ����������������������������������������������������������������������� ���������������������� ����������������������������������������������������� ����������������� ������������������������ ����������������������������������������������� ������������������������������������������������������������������� ���������������������������������������������������������������������� ��������������� ���������������������������������� ���������� ���������������������������� ���������������������� �������������������� Welcoming Address 5 Dear Colleagues, Welcome to Birmingham, Britain’s friendly second city, located in the heart of England.
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