Page 178 - ASHG 2013 Program Guide

POSTER SESSIONS
  165
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
1239
T Altered dose-response relationships in addiction
genetics.
G. R. Uhl, J. Drgonova, F. S. Hall.
1240
F Alzheimer’s disease risk gene
CD33
inhibits
microglial uptake of amyloid beta.
A. Griciuc, A. R.
Parrado, A. Serrano-Pozo, A. N. Lesinski, C. N. Asselin,
K. Mullin, B. Hooli, S. H. Choi, L. Bertram, B. T. Hyman,
R. E. Tanzi.
1241
W Involvement of non-
Hsa21
genes and
microRNAs provide etiological basis for abnormal
phenotypes in pathogenesis of Down syndrome.
A. Pathak, S. R. Phadke.
1242
T Induced pluripotent stem cell derived neural
cells and Parkinson’s disease-associated rare variants.
K. Belle, J. M. Van Baaren, A. Liu, J. A. Vance, D. M.
Dykxhoorn.
1243
F More than ER stress: Molecular mechanism for
misfolded
PLP1
that impacts subcellular dynamics and
clinical severity of Pelizaeus-Merzbacher disease.
Y.
Numata, T. Morimura, S. Nakamura, E. Hirano, S. Kure, Y.
Goto, K. Inoue.
1244
W Potential regulatory functions of late-onset
Alzheimer’s disease associated variants.
S. L.
Rosenthal, M. M. Barmada, X. Wang, F. Y. Demirci, O. L.
Lopez, M. I. Kamboh.
1245
T A functional variation in the
CHRNB3
promoter
affects Parkinson’s disease risk and smoking.
A. Bar-
Shira, M. Gana-Weisz, Z. Gan-Or, E. Giladi, N. Giladi, A.
Orr-Urtreger.
1246
F Identification of mic oRNA expression
quantitative trait loci in the nucleus accumbens of
human postmortem brains from alcohol dependent
subjects and matched controls.
M. Mamdani, V.
Williamson, G. McMichael, B. Riley, K. Kendler, V.
Vladimirov.
1247
W Behavioral and neurochemical
characterization of mutant mice lacking
Lphn3
,
a gene implicated in ADHD and addiction.
D. Wallis,
C. A. Orsini, B. Setlow.
1248
T Induced pluripotent stem cells to model
Tourette’s syndrome.
L. Deng, N. Sun, Z. Pang, R. A.
King, M. Sheldon, J. C. Moore, R. P. Hart, M. Konsolaki,
M. State, G. A. Heiman, J. A. Tischfield.
1249
F Forgetting in
C. elegans
is regulated via
Musashi (
msi-1
)-
mediated translational control of
the Arp2/3 complex.
N. O. Hadziselimovic, F. Peter,
P. Hieber, V. Vukojevic, P. Demougin, D. J. F. de Quervain,
A. Papassotiropoulos, A. Stetak.
1250
W Transcriptional impact of
POLR3A
and
POLR3B
mutations in Pol III-related
hypomyelinating leukodystrophies.
K. Choquet,
S. Durrieu, G. Boldina, M.-J. Dicaire, D. Forget, K.
Guerrero, B. Coulombe, M. Teichmann, G. Bernard,
B. Brais.
1226
W Distinguishing autism spectrum disorders from
other developmental delays using blood RNA-seq.
S. Letovsky, M. Causey, M. Aryee, J. Skoletsky, C. Proulx, F.
R. Sharp, I. N. Pessah, R. Hansen, J. Gregg, I. Hertz-Picciotto.
1227
T A 3.1 Mb deletion at 2q22.1-q22.3 including
NXPH2
gene in a boy with intellectual disability.
N. Yoshihara, K. Kurosawa, I. Oohashi, Y. Kuroda,
H. Osaka, S. Yamashita, M. Iai, K. Takano, M. Okuda,
M. Takagi, R. Anzai, T. Wada.
1228
F Mutation spectrum in the dystrophin gene
disclosed by MLPA in 181 Vietnamese Duchenne/
Becker muscular dystrophy patients.
K. V. Tran, H.
N. Do, T. H. Tran, M. H. Ta, A. T. P. Le, D. C. Vu, V. T. Ta,
M. Matsuo.
1229
W Underlying genetic etiologies in epilepsy
patients: A retrospective large single centre study.
A. Guerin, E. Imhof, M. Zak, S. Mercimek-Mahmutoglu.
1230
T A useful approach for the genetic diagnosis of
infectious agents using next-generation sequencing.
Y. Sakiyama, Y. Higuchi, H. Tanabe, J. Yuan, S. Nozuma,
A. Yoshimura, A. Hashiguchi, Y. Okamoto, R. Hirano,
E. Matsuura, R. Okubo, T. Iwasaki, F. Matsuda, S. Izumo,
H. Takashima.
1231
F Decreased tryptophan metabolism: The
biochemical fingerprint of autism spectrum diso ders.
L. Boccuto, C. F. Chen, A. R. Pittman, C. D. Skinner, H. J.
McCartney, K. Jones, B. R. Bochner, R. E. Stevenson,
C. E. Schwartz.
1232
W Genetic evaluation of hereditary spastic
paraplegia.
S. Schirmer, Z. Kohl, T. Rödl, M. Becher,
J. Winkler, U. Hehr.
1233
T Functional analysis of the autism and intellectual
disability gene
PTCHD1
reveals interactions in
synapses and involvement in the Hedgehog pathway.
K. Mittal, K. Sritharan, B. Degagne, J. Vincent.
1234
F
GABRB2
in schizophrenia.
H. Xue.
1235
W Association between emotional memory and
genetic polymorphisms on histone deacetylase 5.
F. R.
Hartmann, D. J.-F. de Quervain, A. Papassotiropoulos,
A. Heck.
1236
T
CMYA5
,
a candidate gene for schizophrenia:
Expression in the brain and the effect of a functional
variant on binding.
A. Hsiung, R. Shiang, X. Chen.
1237
F Association of NTRK2 and emotional processing
in healthy young subjects.
K. Spalek, A. Heck, D. Coynel,
D. J.-F. de Quervain, A. Papassotiropoulos.
1238
W
PRICKLE1
interaction with
SYNAPSIN I
reveals
a role in autism spectrum disorders.
L. Paemka, V.
B. Mahajan, J. M. Skeie, L. P. Sowers, S. N. Ehaideb, P.
Gonzalez-Alegre, T. Sasaoka, H. Tao, A. Miyagi, N. Ueno,
S. Wu, B. W. Darbro, P. J. Ferguson, A. A. Pieper, J. K.
Britt, J. A. Wemmie, D. S. Rudd, T. Wassink, H. El-Shanti,
H. C. Mefford, G. L. Carvill, J. R. Manak, A. G. Bassuk.