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Thursday, October 13
10:15
AM
–12:15
PM
Concurrent Platform Session B (30-39)
SESSION 39 – Neurogenetics II: Paraplegia, Behavior
and Migraine
Room 510, Level 5, Convention Center
Moderators:
Alexandra Durr, INSERM, France;
Christian Huebner, Univ. of Jena, Germany
155
/10:15
Reticulon mutations in hereditary spastic
paraplegia.
A. P. Rebelo, G. Montenegro, J. Connell,
R. Allison, R. Schüle, T. Deconinck, J. Huang, M.
Pericak-Vance, P. Jonghe, L. Schöls, A. Orlacchio, E.
Reid, S. Zuchner, C. Babalini, G. Bernardi.
156
/10:30
Mutation in
C19orf12
causes hereditary
spastic paraplegia type 43.
G. Landoure, B. G.
Burnett, P.-P. Zhu, J. Johnson, D. Hernandez, C.
Rinaldi, M. Sangare, E. Rugarli, M. Traore, B. Traynor,
C. Blackstone, K. Fischbeck.
157
/10:45
Combination of positional cloning and
new generation sequencing identifies 3 novel
genes of hereditary spastic paraplegia involved in
closely related functions.
G. Stevanin, C. Tesson, M.
Nawara, M. A. M. Salih, M. Zaki, E. Mundwiller, M. Al
Balwi, A. Boukhris, A. Bouhouche, E. Martin, A. Al
Drees, S. A. Elmalik, M. M. Kabiraj, M. Z. Seidahmed,
A. Alswaid, N. Bouslam, L. Orlando, F. Mochel, A.
Rastetter, A. Durr, I. Al Abdulkareem, M. T. Al Rifai, F.
M. Santorelli, A. Benomar, S. A. Al Rasheed, C. Mhiri,
J. Gleeson, F. Darios, A. Brice.
158
/11:00
Tremor-ataxia with central
hypomyelination, leukodystrophy with oligodontia
and 4H syndrome (hypomyelinating leukodystrophy
with hypodontia and hypogonadotropic
hypogonadism) are allelic disorders caused by
mutations in the same gene.
G. Bernard, E. Chouery,
M. L. Putorti, M. Tétreault, A. Takanohashi, G.
Carosso, I. Clément, K. Choquet, S. Fribourg, M.
Teichmann, A. Megarbane, R. Schiffmann, A.
Vanderver, B. Brais.
159
/11:15
IOCDF genome-wide association study of
obsessive-compulsive disorder.
S. E. Stewart, D. Yu,
J. Scharf, E. R. Gamazon, P. Evans, J. A. Knowles, C.
Mathews, P. Arnold, G. Hanna, G. Nestadt, M. Wagner,
D. Denys, D. Cath, C. Lochner, D. L. Murphy, A. G.
Hounie, M. C. Cavallini, H. Nicolini, R. Delorme, D.
Stein, J. Samuels, E. Miguel, M. Pato, J. Fagerness, C.
Mayerfeld, S. Haddad, B. Neale, S. Purcell, N. Cox, D.
L. Pauls, International OCD Foundation Genetics
Collaborative.
160
/11:30
Exome sequencing of an isolated Chilean
population affected by specific language
impairment.
R. Nudel, P. Villanueva, A. Hoischen, C.
Gilissen, L. Carvajal-Carmona, M. Echeverry, L. Jara,
Z. De Barbieri, H. M. Palomino, M. A. Fernández, H.
Palomino, J. Veltman, A. P. Monaco, S. E. Fisher, D. F.
Newbury.
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperati
161
/11:45
Duplication of
GTF2I
results in separati
anxiety in mice and humans.
J. Dida, C. B. Mervis
E. Lam, N. A. Crawford-Zelli, E. J. Young, D. R.
Henderson, C. A. Morris, T. Onay, J. Woodruff-Bord
J. Yeomans, L. R. Osborne.
162
/12:00
Meta-analysis of genome-wide
association data of 20,000 migraine cases identif
two novel gene loci and supports several
biologically relevant mechanisms.
V. Anttila, A.
Aromaa, D. Boomsma, D. Chasman, L. Cherkas, M.
Dichgans, C. van Duijn, T. Freilinger, M.-R. Järvelin,
Kallela, J. Kaprio, C. Kubisch, T. Kurth, L. Launer, L.
Ligthart, A. van den Maagdenberg, N. Martin, D.
Nyholt, O. Raitakari, M. Schuerks, T. Spector, H.
Stefansson, K. Stefansson, D. Strachan, B. de Vries,
M. Wessman, B. Winswold, J.-A. Zwart, A. Palotie,
International Migraine Genetics Meta-analysis
Consortium.