Concurrent Sessions C06 - C11 - Monday, June 14 - 13.15 - 14.45 hrs
C06 Reproductive Genetics | C07 Cancer Genetics | C08 Clinic & Genetics of Skeletal Disorders | C09 Mouse Genetics and Therapy | C10 Statistical / Genetic Epidemiology | C11/EC5A Genetic Research, Biobanking and Public Policy (joint session with EMPAG) | |
| 13.15 | C06.1 Is there an increased risk of congenital malformations after Assisted Reproductive Technologies (ART)? Results of a French cohort composed of 15 162 children | C07.1 Identification of biomarkers for acute lymphoblastic leukemia (ALL) by allele-specific gene expression and DNA methylation analysis of primary ALL cells | C08.1 Treacher Collins syndrome - detailed genetic and phenotypic analysis | C09.1 Chromosome-wide mapping of long-range interactions involved in Smith-Magenis and Potocki-Lupski syndromes | C10.1 Copy number variable regions in 13 European populations | C11.1 Policy Recommendations of the PPPC on direct-to-consumer genetic testing for health purposes |
| 13.30 | C06.2 The origin of de novo chromosome deletions identified by array CGH | C07.2 Correlation of telomere length shortening with promoter methylation profile of p16/Rb and p53/p21 pathways in breast cancer | C08.2 Genomic rearrangements of the GREM1-FMN1 locus cause Oligosyndactyly, Radio-Ulnar synostosis, Hearing loss, Renal defects syndrome and Cenani-Lenz-like non-syndromic Oligosyndactyly | C09.2 Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated to upregulation of the mTOR pathway | C10.2 A founder mutation in LEPRE1 causes lethal recessive Type VIII Osteogenesis Imperfecta and occurs in West Africans and African Americans | C11.2 Reporting genetic research results: A quasi-experimental approach to understanding researchers' judgments |
| 13.45 | C06.3 Novel insights into the pathogenesis of common aneuploidies using genomic analysis of cell-free amniotic fluid | C07.3 Discovery of molecular targets for therapy by expression profiling of thyroid cancer cases | C08.3 An inherited arthritis is caused by mutations in TRPV4 | C09.3 Lack of Mid1, the mouse ortholog of the Opitz Syndrome gene, causes abnormal development of the anterior cerebellar vermis | C10.3 Paleogenetic study for reconstruction of genealogy of first Moldavian princes from 14th century | C11.3 Direct-to-consumer genetic testing companies: what are their policies regarding testing in minors? |
| 14.00 | C06.4 Frequencies of 15q11-q13, 7q11.23 and 22q11.2 deletions and duplications in spermatozoa from Prader-Willi syndrome fathers. | C07.4 A new approach for ovarian cancer screening - characterization of miRNA profiles in peripheral blood | C08.4 Mutations in PITX1 cause a human patellar malformation syndrome: Delineation of a recognisable lower-limb phenotype | C09.4 Global gene transfer in the CNS and phenotypic correction of MLD model mice by systemic neonatal injection of serotype 9 AAV vector | C10.4 Modelling haplotype structure in isolate populations for population sequencing | C11.4 Genetic Counsellors' Views Regarding Their Role in Delivering a Pharmacogenetic Service |
| 14.15 | C06.5 Genome-wide single cell array analysis for preimplantation genetic diagnosis of a complex chromosomal rearrangement carrier | C07.5 Methylation Profiles of 22 Candidate Genes in Breast Cancer Using High-Throughput MALDI-TOF Mass Array | C08.5 TRPV4-related skeletal dysplasias: a clinical, radiographic, and molecular study in 18 families. | C09.5 The forkhead transcription factor FOXL2 is sumoylated in both human and mouse: Sumoylation affects its stability, localization, and activity | C10.5 Inverse mapping approach implies the role of large CNVs in intellectual deficits and learning difficulties in a population cohort | C11.5 Informed consent for large-scale biobank research: experience and attitudes of cancer patients |
| 14.30 | C06.6 Prenatal anomalies in a cohort of 40 Noonan syndrome patients | C07.6 Unraveling the Complexity of Primary and Metastatic Ewing's Sarcoma Using Helicos Single Molecule Sequencing | C08.6 Clinical and molecular findings on 20 patients with fibrodysplasia ossificans progressiva | C09.6 SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy | C10.6 A novel approach to analysis of raw Illumina microarray data to assess the contribution of copy number variations to obesity and gene expression | C11.6 Biobanking cancer tissue. Patients consider excised (tumour) tissue to be 'connective tissue'. |