Concurrent Sessions C06 - C11 - Monday, June 14 - 13.15 - 14.45 hrs


C06 Reproductive Genetics
Congress Hall

C07 Cancer Genetics
Room F1+F2+F3

C08 Clinic & Genetics of Skeletal Disorders
Room F4+F5

C09 Mouse Genetics and Therapy
Room G1+G2

C10 Statistical / Genetic Epidemiology
Room G3

C11/EC5A Genetic Research, Biobanking and Public Policy (joint session with EMPAG)
Room F6


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
G. B. Viot, S. Epelboin, F. Olivennes, S. Follow-Up AMP vigilance

C07.1 Identification of biomarkers for acute lymphoblastic leukemia (ALL) by allele-specific gene expression and DNA methylation analysis of primary ALL cells
L. Milani, A. Lundmark, J. Nordlund, A. Kiialainen, K. L. Gunderson, T. Flaegstad, E. Forestier, M. Heyman, G. Jonmundsson, J. Kanerva, K. Schmiegelov, S. Söderhäll, M. G. Gustafsson, G. Lönnerholm, A. C. Syvänen

C08.1 Treacher Collins syndrome - detailed genetic and phenotypic analysis
D. Wieczorek
, S. Seland, H. J. Lüdecke, S. Böhringer, L. Klein-Hitpass, C. Daumer-Haas, N. Elcioglu, H. Hameister, H. Kayserili, A. Kobelt, D. Müller, O. Rittinger, S. Spranger, G. Strobl-Wildemann, J. Vodopiutz, R. Brekelmans, D. R. Lohmann, U. Hehr

C09.1 Chromosome-wide mapping of long-range interactions involved in Smith-Magenis and Potocki-Lupski syndromes
N. Gheldof
, B. Lajoie, G. Ricard, J. Chrast, J. Molina, J. R. Lupski, K. Walz, J. Dekker, A. Reymond

C10.1 Copy number variable regions in 13 European populations
T. Esko, G. Escramis, R. Rabionet, P. Palta, M. Nelis, F. Zimprich, D. Toncheva, M. Macek, L. Peltonen, B. Melegh, D. Toniolo, P. Gasparini, J. Klovins, V. Kučinskas, J. Lubinski, S. Limborska, S. E. Antonarakis, C. M. van Duijn, M. Remm, X. Estivill, A. Metspalu

C11.1 Policy Recommendations of the PPPC on direct-to-consumer genetic testing for health purposes
P. Borry
, C. Patch, M. Cornel; on behalf of the PPPC


C06.2 The origin of de novo chromosome deletions identified by array CGH
S. Thomas, C. Sibbons, H. Eisenhauer, J. Crolla, P. Jacobs

C07.2 Correlation of telomere length shortening with promoter methylation profile of p16/Rb and p53/p21 pathways in breast cancer
Z. Brekati
, R. Radpour, C. Kohler, R. Asadollahi, X. Zhong

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
B. I. Dimitrov
, T. Voet, L. De Smet, J. R. Vermeesch, K. Devriendt, J. Fryns, P. Debeer

C09.2 Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated to upregulation of the mTOR pathway
B. Franco, D. Iaconis, A. Barra, A. Cantone, N. Messaddeq, G. Capasso, P. Dolle, P. Igarashi, A. Zullo

C10.2 A founder mutation in LEPRE1 causes lethal recessive Type VIII Osteogenesis Imperfecta and occurs in West Africans and African Americans
W. A. Cabral, A. M. Barnes, A. Adeyemo, K. Cushing, D. Chitayat, F. D. Porter, S. R. Panny, F. Majid, T. R. Rebbeck, S. A. Tishkoff, J. E. Bailey-Wilson, L. C. Brody, C. N. Rotimi, J. C. Marini

C11.2 Reporting genetic research results: A quasi-experimental approach to understanding researchers' judgments
R. Z. Hayeems
, F. A. Miller, L. Li, J. P. Bytautas


C06.3 Novel insights into the pathogenesis of common aneuploidies using genomic analysis of cell-free amniotic fluid
D. W. Bianchi, K. L. Johnson, K. Koide, L. Massingham, J. L. Maron, D. Slonim

C07.3 Discovery of molecular targets for therapy by expression profiling of thyroid cancer cases
D. Nikolova, I. Dimova, H. Zembutsu, T. Sechanov, K. Vidinov, L. Kee, R. Ivanova, E. Becheva, D. Toncheva, Y. Nakamura

C08.3 An inherited arthritis is caused by mutations in TRPV4
R. Savarirayan
, S. Lamande, Y. Yuan, I. Gresshoff, C. Little, L. Rowley, K. Kaluarachchi, E. Botzenhart, D. Amor, W. Cole, P. McIntrye, J. Bateman

C09.3 Lack of Mid1, the mouse ortholog of the Opitz Syndrome gene, causes abnormal development of the anterior cerebellar vermis
A. Lancioni
, M. Pizzo, B. Fontanella, R. Ferrentino, L. M. R. Napolitano, E. De Leonibus, G. Meroni

C10.3 Paleogenetic study for reconstruction of genealogy of first Moldavian princes from 14th century
A. Rodewald
, G. Cardos, C. Tesio

C11.3 Direct-to-consumer genetic testing companies: what are their policies regarding testing in minors?
H. C. Howard
, P. Borry


C06.4 Frequencies of 15q11-q13, 7q11.23 and 22q11.2 deletions and duplications in spermatozoa from Prader-Willi syndrome fathers.
Ã’. Molina, E. Anton, F. Vidal, J. Blanco

C07.4 A new approach for ovarian cancer screening - characterization of miRNA profiles in peripheral blood
S. F. M. Häusler, A. Keller, A. Chandran, J. Wischhusen

C08.4 Mutations in PITX1 cause a human patellar malformation syndrome: Delineation of a recognisable lower-limb phenotype
E. M. H. F. Bongers
, J. Schoots, F. Stock, N. V. A. M. Knoers, J. W. M. Gardeniers, A. van Kampen, J. de Rooij, L. Hoefsloot

C09.4 Global gene transfer in the CNS and phenotypic correction of MLD model mice by systemic neonatal injection of serotype 9 AAV vector
N. Miyake
, K. Miyake, N. Asakawa, M. Okabe, M. Yamamoto, T. Shimada

C10.4 Modelling haplotype structure in isolate populations for population sequencing
K. Palin
, K. Rehnstrom, L. Peltonen, R. Durbin

C11.4 Genetic Counsellors' Views Regarding Their Role in Delivering a Pharmacogenetic Service
A. V. E. Callard
, W. Newman, K. Payne


C06.5 Genome-wide single cell array analysis for preimplantation genetic diagnosis of a complex chromosomal rearrangement carrier
E. Vanneste
, C. Melotte, U. Ullman, C. Staessen, I. Liebaers, T. Voet, S. Debrock, A. Pexsters, C. Tomassetti, J. Fryns, T. D'Hooghe, J. R. Vermeesch

C07.5 Methylation Profiles of 22 Candidate Genes in Breast Cancer Using High-Throughput MALDI-TOF Mass Array
R. Radpour
, Z. Barekati, C. Kohler, X. Zhong

C08.5 TRPV4-related skeletal dysplasias: a clinical, radiographic, and molecular study in 18 families.
E. Andreucci
, J. Bateman, S. Aftimos, E. Haan, W. Hunter, B. Kerr, G. McGillivray, R. J. McKinlay Gardner, M. Patricelli, D. Sillence, S. Lamandé, R. Savarirayan

C09.5 The forkhead transcription factor FOXL2 is sumoylated in both human and mouse: Sumoylation affects its stability, localization, and activity
M. Marongiu
, M. Deiana, A. Meloni, L. Marcia, A. Puddu, A. Cao, D. Schlessinger, L. Crisponi

C10.5 Inverse mapping approach implies the role of large CNVs in intellectual deficits and learning difficulties in a population cohort
O. P. H. Pietiläinen
, K. Rehnström, E. Jakkula, S. Service, E. Congdon, C. Tilgmann, T. Paunio, S. Ripatti, M. Järvelin, M. Isohanni, C. Sabatti, A. Palotie, N. B. Freimer, L. Peltonen

C11.5 Informed consent for large-scale biobank research: experience and attitudes of cancer patients
J. Mancini, C. Chabannon, I. Pellegrini, F. Viret, N. Vey, C. Julian-Reynier


C06.6 Prenatal anomalies in a cohort of 40 Noonan syndrome patients
G. Baldassarre
, C. Rossi, E. Banaudi, M. Tartaglia, A. Marinosci, M. Silengo, G. B. Ferrero

C07.6 Unraveling the Complexity of Primary and Metastatic Ewing's Sarcoma Using Helicos Single Molecule Sequencing
P. Kapranov
, R. J. Arceci, J. Buckley, G. Reaman, P. Reynolds, P. Sorensen, J. Thompson, P. Milos, T. Triche

C08.6 Clinical and molecular findings on 20 patients with fibrodysplasia ossificans progressiva
I. Stefanova
, C. Grünberg, G. Gillessen-Kaesbach

C09.6 SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy
M. Riessland, B. Ackermann, A. Förster, M. Jakubik, J. Hauke, L. Garbes, I. Fritzsche, Y. Mende, I. Blumcke, E. Hahnen, B. Wirth

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
J. C. Andersson
, A. J. Walley, J. S. El-Sayed Moustafa, P. Jacobson, M. Jernas, A. Bibi, A. Siddiq, L. Sjöström, A. I. F. Blakemore, P. Froguel, L. M. S. Carlsson, M. Falchi

C11.6 Biobanking cancer tissue. Patients consider excised (tumour) tissue to be 'connective tissue'.
E. Vermeulen