INVITED AND SPECIAL SESSIONS
Thursday, October 27
2:00 PM-4:30 PM
Concurrent Platform Sessions II (33-39) Click on abstract number to view full text
SESSION 35 - Mental Retardation and Cognition
Hall 2
Co-Moderators: Bruce Korf, University of Alabama, Birmingham; and Suzanne Cassidy, University of California-Irvine, Sausalito
97/2:00 Discovering human diseases genes with the help of mouse models: An example with Dup(17)(p11.2p11.2) syndrome. K. Walz, J. Yan, W. Bi, R. Paylor and J. R. Lupski.
98/2:15 Strategies for detection of chromosome abnormalities in children with developmental delay: is it effective to use subtelomere FISH analysis as an initial screening test? J. B. Ravnan, J. F. Stefanik, G. Avery and J. T. Mascarello.
99/2:30 Systematic screening for microduplications/microdeletions in patients with mental retardation using a simple QMPSF assay. P. Saugier-Veber, A. Goldenberg, V. Drouin-Garraud, V. Layet, N. Drouot, G. Joly-Helas, C. de La Rochebrochard, H. Moirot, M. Tosi and T. Frebourg.
100/2:45 Duplication of the commonly deleted Williams-Beuren syndrome region at 7q11.23 causes severe expressive language delay. L. R. Osborne, C. B. Mervis, E. J. Young, E. J. Seo, M. del Campo, S. Bamforth, E. Peregrine, W. Loo, M. Lilley, C. A. Morris, L. A. Pérez-Jurado, S. W. Scherer and M. J. Somerville.
101/3:00 SIZN1 (Smad Interacting Zinc Finger Protein): a new gene implicated in X-linked mental retardation. C. E. Schwartz, G. Cho, S. S. Bhat, Y. Lim, D. Zand, J. Gao, J. Collins, A. K. Srivastava and J. A. Golden.
102/3:15 The CC2D1A gene representing a new gene family with C2 domains controls human cognition. L. Basel-Vanagaite, R. Attia, M. Yahav, R. J. Ferland, L. Anteki, C. A. Walsh, T. Olender, R. Straussberg, N. Magal, E. Taub, V. Drassinover, A. Alkelai, D. Berkovich, G. Rechavi, A. J. Simon and M. Shohat.
103†/3:30 Homozygous deletion of the very-low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. K. M. Boycott, S. Flavelle, A. Bureau, H. C. Glass, T. M. Fujiwara, E. Wirrell, K. Davey, A. E. Chudley, J. N. Scott, D. R. McLeod and J. S. Parboosingh.
104/3:45 DOCK8: A Candidate Mental Retardation Gene Located in Subtelomeric 9p. B. L. Griggs, S. Ladd, R. A. Saul, B. R. DuPont and A. K. Srivastava.
105/4:00 Analysis of the STK9/CDKL5 gene in patients with suspected Rett syndrome and X-linked infantile spasms syndrome/West syndrome. A. Alkhateeb, K. L. Clift, K. S. Petras, W. B. Dobyns and S. Das.
106/4:15 Autosomal dominant mental retardation resulting from mutations in cell-adhesion molecules. A. K. Srivastava, K. Bhalla, G. F. Guzauskas, T. Buchan, M. A. Beachem, S. Ladd, S. J. Bratcher, B. R. DuPont, R. J. Schroer, J. Balsamo and J. Lilien.
