Page 232 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
221
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
Molecular Basis of Mendelian
Disorders
2662
W The role of GTF2IRD1 in the auditory pathology
of Williams-Beuren syndrome.
C. P. Canales, A. C. Y.
Wong, G. D. Housley, P. W. Gunning, E. C. Hardeman, S.
J. Palmer.
2663
T Tricellulin is required to maintain the barrier
function of the reticular lamina and protect the
cochlear hair cells from potassium toxicity.
G. Nayak, I.
A. Belyantseva, R. Yousaf, S. Edelmann, S. Lee, G. Sinha,
M. Rafeeq, S. M. Jones, C. M. Van Itallie, J. M. Anderson,
A. Forge, G. I. Frolenkov, S. Riazuddin.
2664
F Generation and characterization of
Plp1
dup, a
new mouse model of Pelizaeus-Merzbacher disease
with tandem genomic duplication.
G. Hobson, K. Clark,
L. Sakowski, K. Sperle, L. Banser, D. Bessert, R. Skoff.
2665
W Gtf2i copy number affects the growth of neural
progenitors in the developing mouse cortex.
H. Oh, L.
R. Osborne.
2666
T
GPM6A
is duplicated in a patient with learning
disability and behavioral anomalies and influences
stress response and long-term memory in
Drosophila
melanogaster
.
C. Zweier, A. Gregor, J. Kramer, I.
Schanze, A. B. Ekici, A. Schenck, A. Reis.
2667
F FASPS associated
Per3
mutation affects
mesenchymal stem cell differentiation.
K. Kaasik, C. R.
Jones, Y. H. Xu, S. Nishino, L. J. Ptacek, Y. H. Fu.
2668
W Characterization of a novel mitofusin 2 knockin
mouse model.
A. Rebelo, A. Strickland, F. Zhang, J. Price,
J. Silva, R. Wen, B. Bolon, J. Vance, S. Zuchner.
2669
T Triply mouse model of Tay-Sachs disease shows
altered brain ganglioside pattern.
V. Seyrantepe, Z.
Timur.
2670
F Deficiency of
SPECC1L
downregulates PI3K-
AKT signaling in the pathogenesis of oblique facial
clefts.
N. R. Wilson, A. J. Olm-Shipman, L. Pitstick, B. C.
Bjork, I. Saadi.
2671
W Transgenic rescue of BBS phenotypes in Bbs4
null mice.
X. Chamling, S. Seo, K. Bugge, C. C. Searby, A.
V. Drack, K. Rahmouni, V. C. Sheffield.
2672
T Overexpression of Rai1 in mouse forebrain
neurons is enough to cause most PTLS-like
phenotypes.
L. Cao, J. Molina, P. Carmona-Mora, A.
Oyarzo, J. Young, K. Walz.
2673
F A zebrafish model for Richieri-Costa-Pereira
syndrome: Knockdown of
eif4a3
gene results in
craniofacial development disorder.
L. Alvizi, A. Weiner,
F. Favaro, R. Zechi-Ceide, A. Richieri-Costa, M. Guion-
Almeida, N. Calcaterra, M. R. Passos-Bueno.
2650
T Joint SNP analysis identifies multiple signals
underlying association between
CHRNB3-CHRNA6
and
nicotine dependence.
B. Sadler, E. Johnson, N. Saccone,
L. Bierut, A. Goate.
2651
F Variation in gene expression related
to schizophrenia-associated neurocognitive
endophenotypes.
E. E. Quillen, M. A. Carless, J. Neary, M.
Z. Kos, R. C. Gur, M. F. Pogue-Geile, K. Prasad, J. Blangero,
H. H. H. Göring, V. L. Nimgaonkar, R. E. Gur, L. Almasy.
2652
W A genome-wide epigenetic analysis in
monozygotic twins discordant for schizophrenia.
F.
Nishimura, A. Yoshikawa, S. Nanko, A. Imamura, Y. Okazaki,
K. Iwamoto, T. Kato, T. Sasaki, K. Kasai, C. Kakiuchi.
2653
T microRNA-9 and -206 expression profile in
human amyotrophic lateral sclerosis.
D. Dogini, A.
Nucci, I. Lopes-Cendes, M. C. França, Jr.
2654
F Altered cell growth and mTOR signaling in
idiopathic autism spectrum disorders.
A. M. Suzuki, C.
O. F. Machado, K. G. Oliveira, E. Vadasz, M. R. Passos-
Bueno, A. L. Sertie.
2655
W Investigating the genetic susceptibility to
epilepsy in animal models using gene expression
studies.
A. H. B. Matos, V. D. B. Pascoal, D. R.
Nascimento, M. Martins, C. S. Rocha, J. F. Vasconcellos,
M. T. Chamma, C. V. Maurer-Morelli, A. S. Martins, A. C.
Valle, A. L. B. Godard, I. Lopes-Cendes.
2656
T Effects of oral L-carnitine administration in
narcolepsy patients.
T. Miyagawa, H. Kawamura, M. Obuchi,
A. Ikesaki, A. Ozaki, K. Tokunaga, Y. Inoue, M. Honda.
2657
F Discovery of genetic syndromes in patients
manifesting with primary neuropsychiatric disorders.
J.
So, J. L. Kennedy.
2658
W Genomic and bioinformatic analyses of sex
differences in autism spectrum disorder.
D. M. Werling,
J. K. Lowe, V. Chandran, R. M. Cantor, D. H. Geschwind,
ACE Genetics Consortium.
2659
T Analysis of
RBFOX1
gene expression in
lymphoblastoid cell lines of discordant ASD sib pairs.
C. Zusi, P. Prandini, G. Malerba, A. Marostica, E. Trabetti,
P. F. Pignatti, Italian Autism Network.
2660
F Protein-protein interaction network for autism
spectrum disorders.
R. Corominas, X. Yang, G. N. Lin, S.
Kang, Y. Shen, L. Ghamsari, S. A. Wanamaker, S. Tam, M.
Rodriguez, M. Broly, V. Romero, I. Lemmens, M. Tasan, J.
Tavernier, F. P. Roth, M. Calderwood, J. Sebat, K. Salehi-
Ashtiani, D. E. Hill, M. Vidal, T. Hao, L. M. Iakoucheva.
2661
W Transcriptome analysis of brain-related
diseases in whole blood by RNA sequencing.
S.
de Jong, T. Wang, A. P. S. Ori, M. Wiedau-Pazos, E.
Strengman, N. Tran, J. DeYoung, R. S. Kahn, M. P. M.
Boks, S. Horvath, R. A. Ophoff.