Page 221 - ASHG 2012 Annual Meeting Program Guide

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POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
2394
W Next-generation sequencing and mutation
screening in patients with familial mesial temporal
lobe epilepsy: Investigating the chromosome 18p11.31
candidate locus.
R. O. Santos, M. G. Borges, W. T. S.
T. Ide, C. S. Rocha, R. Secolin, F. M. Artiguenave, C. L.
Yasuda, A. C. Coan, M. E. Morita, F. Cendes, C. V. Maurer-
Morelli, I. Lopes-Cendes.
2395
T Characterization of a GEFS locus on
6
q16.3q22.31.
P. Szafranski, G. Von Allmen, B. Graham,
S. Fogarty, A. A. Wilfong, S.-H. L. Kang, J. A. Fereira,
W. Bi, J. A. Rosenfeld, L. G. Shaffer, S. W. Cheung,
P. Stankiewicz, S. R. Lalani.
2396
F Identifying disease genes in a large highly inbred
consanguineous kindred from Turkey with idiopathic
generalized epilepsy.
F. N. Tuncer, S. A. Ugur Iseri, M.
Calik, A. Iscan, G. Altiokka Uzun, U. Ozbek.
2397
W Haplotype sharing and linkage analyses of
multigenerational families with multiple sclerosis
identified two chromosomal regions at 12p12.3-q12
and 16q21-q22.3.
N. Matsunami, J. Stevens, L. Baird, B.
Otterud, T. Varvil, T. Leppert, J. W. Rose, M. F. Leppert.
2398
T Homozygosity mapping and exome sequencing
identifies a gene on 11q24.2 for non-syndromic
autosomal recessive intellectual disability in a
Pakistani family.
M. A. Rafiq, I. A. Balouch, K. Mittal, A.
Mikhailov, M. Ayub, P. John, J. B. Vincent.
2399
F Investigation of inherited copy number
variations in extended Asperger syndrome families.
M. Rossi, K. Rehnström, O. Pietiläinen, V. Leppä, T.
Hiekkalinna, T. Nieminen-von Wendt, J. Barrett, I. Hovatta,
S. Ripatti, A. Palotie.
2400
W Gene analysis of familial and sporadic
amyotrophic lateral sclerosis in Kyushu island of
Japan.
H. Furuya, A. Watanabe, H. Arahata, Y. Kawano, N.
Fujii, H. Kikuchi, T. Fujiwara, T. Hokonohara, A. Iwaki, H.
Shibata, Y. Fukumaki.
2401
T Replication and generalization of genetic risk
factors for depression, anxiety and panic attack in a
population-based cohort with African, European and
Mexican ancestries.
J. N. Vega, K. Brown-Gentry, D. C.
Crawford, T. A. Thornton-Wells.
2402
F Genome-wide genetic studies of two
consanguineous Pakistani multiplex pedigrees with
schizophrenia and bipolar disorder.
L. Xiong, S. Zhou,
M. Christian, S. Provost, G. Asselin, Q. Brohi, M. Denton,
R. Joober, L. E. DeLisi, G. A. Rouleau.
2403
W A comprehensive genotype-phenotype study
for
CHRNA7
and
CHRFAM7A
in autism and intellectual
disability.
J. Ge, C. P. Schaaf, B. Zhang, A. L. Hall,
M. Ali, S. Tinschert, U. Moog, A. Patel, P. Stankiewicz,
A. L. Beaudet.
2404
T Genetic variant of
AKT1
and
AKTIP
associated
with risk for late-onset depression in a Brazilian
population.
P. Pereira, M. Romano-Silva, M. Bicalho, E.
Moraes, L. Malloy-Diniz, R. Nicolato, G. Pimenta, M. Mello,
I. Bozzi, D. Miranda.
2405
F Whole genome gene expression analysis of
patients with 22q11 deletion syndrome and controls.
K. K. Mantripragada, S. Chawner, M. B. van den Bree,
R. G. Thomas, L. Bates, M. J. Owen, N. M. Wiliams.
2406
W Fine-mapping of a region of interest in an
extended family with multiple cases of autism.
N. H.
Chapman, K. Ankeman, R. Bernier, A. Estes, J. Munson,
Z. Brkanac, W. Raskind, H. Coon, E. M. Wijsman.
2407
T Investigation of GWAS findings in schizophrenia
in a case control and a family sample from Indonesia.
D. B. Wildenauer, W. Qin, M. D. B. Wildenauer, A. A. A. A.
Kusumawhardani, B. Benyamin, S. G. Schwab, Indonesia
Schizophrenia Genetics Consortium.
2408
F Association analysis of mitochondrial DNA
with suicidal behavior in schizophrenia.
V. De Luca, A.
Hassan, N. Hettige, C. Borlido, G. Polsinelli.
2409
W Application of whole genome resequencing to
identify the causative gene for an autosomal recessive
oculopharyngodistal myopathy.
M. Taira, H. Ishiura, Y.
Ichikawa, B. Ahsan, Y. Fukuda, J. Mitsui, Y. Takahashi, K.
Higasa, J. Yoshimura, I. Nishino, J. Shimizu, S. Murayama,
E. Uyama, S. Morishita, J. Goto, S. Tsuji.
2410
T Glucocerebrosidase mutations and dementia
with Lewy bodies.
L. Clark, K. Mirzozoda, J. H. Lee, R.
Mayeux, L. S. Honig.
2411
F Both ISRE and GAS interferon regulatory
sequences found in chromosome 21 genes that
are important in brain development and function.
A. Jagadeesh, J. Nagappa, K. Sampson, H. North, L.
Gutman, P. Lenferna de la Motte, M. Sellers, I. Dhanoya,
D. Elyaman, J. Husni, L. E. Maroun.
2412
W Genome-wide SNP analysis in a large
consanguineous Turkish family reveals diagnosis as
Unverricht-Lundborg disease.
U. Ozbek, S. A. Ugur Iseri,
F. N. Tuncer, I. Karacan, O. Ozdemir, G. Altiokka Uzun, M.
Calik, A. Iscan.
2413
T
CRHR2
differentially modulates anxious
temperament and plasma cortisol in a rhesus
macaque model of childhood anxiety.
G. L. Fawcett,
M. Raveendran, J. A. Oler, A. S. Fox, S. E. Shelton, N.
H. Kalin, J. M. Cheverud, D. M. Muzny, R. A. Gibbs, J.
Rogers.
2414
F Deregulation of neuronal cytoskeleton dynamics
and androgen receptor gene pathways converge
to aberrant synapse modulation in autism.
K. Griesi
Oliveira, D. Y. Sunaga, L. A. Cruz, E. Vadasz, M. R.
Passos-Bueno.
2415
W Calcium channel genes are associated with
autism spectrum disorders.
A. Lu, X. Dai, R. M. Cantor.
2416
T X-chromosomal dystonia parkinsonism
syndrome: Disease-specific sequence change DSC3
of
TAF1/DYT3
multiple transcript system affects
dopamine metabolism, vesicular transport, and
synapse function.
U. Mueller, D. Nolte, A. Hofmann, J.
Schultze, T. Herzfeld.