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E.C.A. 2015 presentations
| SATURDAY, 4 JULY 2015 | ||
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| 18:00 - 19:00 | Plenary Hall | Opening Lecture Chairs: José M. Garcia-Sagredo, Damien Sanlaville Aneuploidy in humans: new insights into an age-old problem Terry Hassold (USA) |
| SUNDAY, 5 JULY 2015 | ||
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| 08:30 - 10:30 | Plenary Hall | Plenary Session: Clinical Cytogenetics Chairs: Elisabeth Syk-Lundberg, Kamlesh Madan |
| 08:30 - 09:05 | CNV on the X Chromosome. Clinical interpretation and pitfalls Damien Sanlaville (F) |
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| 09:05 - 09:40 | Can Down syndrome be treated? Renaud Touraine (F) |
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| 11:00 - 12:00 | Plenary Hall | Plenary Session: 150 Years Since Mendel's Laws (Brno, Natural History Society 1865, published 1866) Chairs: Pat Heslop-Harrison, Mariano Rocchi |
| 11:00 - 11:30 | Mendel, his time, and the rediscovery of his laws Trude Schwarzacher (GB) |
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| 11:30 - 12:00 | From genetic to epigenetic inheritance Marcus Pembrey (GB) |
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| 14:40 - 15:45 | Plenary Hall | Concurrent Session: Chromosomal Rearrangements I Chairs: Orsetta Zuffardi, Damien Sanlaville |
| 14:40 - 15:05 | Engineering human tumour-associated chromosomal translocations with the RNA-guided CRISPR-Cas9 system Sandra Rodriguez Perales (E) Download |
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| 15:05 - 15:30 | Genome rearrangements in hereditary disorders Karl Heinimann (CH) |
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| 14:40 - 15:45 | Com 13 | Concurrent Session: Segmental Duplications and Copy Number Variants I Chairs: Joris Vermeesch, Serge Romana |
| 14:40 - 15:05 | Salivary amylase CNV and obesity Philippe Froguel (GB) |
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| 15:05 - 15:30 | Polymorphism of the pseudoautosomal region I Martin A. Mensah (D) |
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| 16:15 - 17:20 | Plenary Hall | Concurrent Session: Fragile Sites and Chromosome Instability Chairs: Lidia Larizza, Jean-Michel Dupont |
| 16:15 - 16:40 | X Fragile Syndrome: an overview Jean-Louis Mandel (F) |
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| 16:40 - 17:05 | CINister problems, modeling aneuploidy in the mouse Floris Foijer (NL) |
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| 16:15 - 17:20 | Com 13 | Concurrent Session: Segmental Duplications and Copy Number Variants II Chairs: Nicole de Leeuw, Juan Cigudosa |
| 16:15 - 16:40 | The growing importance of CNVs: new insights for detection and clinical interpretation Sebastien Jacquemont (CDN) |
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| 16:40 - 17:05 | CNV detection by array and NGS in postnatal genome diagnostics Nicole de Leeuw (NL) |
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| MONDAY, 6 JULY 2015 | ||
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| 08:30 - 10:30 | Plenary Hall | Plenary Session: Tumor cytogenetics I Chairs: Felix Mitelman, Claudia Haferlach |
| 08:30 - 09:00 | Molecular breakdown of AML with EVI1 Ruud Delwel (NL) |
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| 09:00 - 09:30 | Myelodysplastic syndromes: from 5q- to somatic mutation of RNA splicing machinery Mario Cazzola (I) |
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| 11:00 - 12:15 | Plenary Hall | Concurrent Session: Chromosomal Rearrangements II Chairs: Nicole de Leeuw, Franck Pellestor |
| 11:00 - 11:30 | Retrotransposable elements, unbalanced translocations and chimerism Joris Vermeesch (B) |
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| 11:30 - 12:00 | SD, CNV and complex regions of the human genome Francesca Antonacci (I) |
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| 11:00-12:15 | Com 13 | Concurrent Session: Animal and Plant Cytogenetics Chairs: Pat Heslop Harrison, Valerie Fillon |
| 11:00 - 11:30 | Chromosome-centric approaches unravel the impact of polyploidization and interspecific hybridization Jaroslav Dolezel (CZ) |
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| 11:30 - 12:00 | Functional organization of satellite-less equid centromeres Elena Giulotto (I) |
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| 14:30 - 15:45 | Plenary Hall | Plenary Session: Impact of Whole Genome Sequencing on Future Diagnostics Chairs: Eva Klopocki, Juan Cigudosa |
| 14:30 - 15:00 | NGS and cytogenetics Joris Veltman (NL) |
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| 15:00 - 15:30 | Genetic diagnosis in malignant hemopathies Claudia Haferlach (D) |
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| 16:15 - 17:30 | Plenary Hall | Concurrent Session: Tumor Cytogenetics II Chairs: Roberta Vanni, Thierry Lavabre-Bertrand |
| 16:15 - 16:45 | Constitutional and somatic rearrangement of chromosome 21 in ALL Christine J. Harrison (GB) Download |
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| 16:45 - 17:15 | Developmental disease and cancer: Biological and Clinical Overlaps Alfonso Bellacosa (USA) |
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| 16:15 - 17:30 | Com 13 | Concurrent Session: Accreditation and Quality Control Chairs: Harald Rieder, Martine Doco-Fency |
| 16:15 - 16:40 | European Standards for Clinical Laboratory Geneticists Thomas Liehr (D) Download |
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| 16:40 - 17:00 | Changes in ISO 15189: practical implications Konstantin Miller (D) |
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| 17:00 - 17:30 | Mandatory 15189 ISO accreditation for French medical laboratories: how to best reconcile regulatory and normative requirements for cytogenetics? Philippe Lochu (F) Download |
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| TUESDAY, 7 JULY 2015 | ||
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| 09:00 - 10:30 | Plenary Hall | Plenary Session: Prenatal Diagnosis Chairs: Konstantin Miller, Sevilhan Artan |
| 09:00 - 09:30 | The Positive Predictive Value of Noninvasive Prenatal Screening (NIPS) Charles Strom (USA) |
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| 09:30 - 10:00 | Prenatal technologies and sex ratio Kamlesh Madan (NL) |
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| 11:50 - 12:20 | Plenary Hall | Keynote Lecture Chairs: Mariano Rocchi, José M. Garcia-Sagredo The chromosome 22q11.2 rearrangement disorders Bernice E. Morrow (USA) |
| Christine J. Harrison | Download |
| Thomas Liehr | Download |
| Sandra Rodriguez-Perales | Download |
| Philippe Lochu | Download |