Page 222 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
211
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
2430
W Increased error-related brain activity in youth
with obsessive-compulsive disorder and unaffected
siblings.
G. Hanna, M. Carrasco, S. Harbin, J. Nienhuis,
K. Fitzgerald, W. Gehring.
2431
T Bipolarity in children with dyslexia.
C. C. Mignot,
F. X. Coude.
2432
F Sequential processing deficit as a cognitive
endophenotype in a multigenerational family with a
severe speech sound disorder.
B. Peter, K. Chapman,
W. Raskind.
2433
W Investigation of the role of serotonin and
histamine pathways in the etiology of Tourette’s
syndrome.
N. Sun, G. A. Heiman, L. Deng, M. Sheldon,
J. C. Moore, A. J. Toro-Ramos, R. P. Hart, Z. Pang, J. A.
Tischfield.
2434
T Is DS22q11.2 distal a frequent etiology of
mathematical learning disability?
M. R. S. Carvalho, G.
S. Vianna, L. F. S. Oliveira, B. C. Moreira, R. Sturzeneker,
M. J. B. Aguiar, L. Leão, G. Paskulin, P. Zen, V. G. Haase.
2435
F DNA methylation alterations in first-episode
schizophrenia patients: Comprehensive analysis using
peripheral blood cells.
M. Nishioka, M. Bundo, S. Koike,
C. Kakiuchi, T. Araki, K. Kasai, K. Iwamoto.
2436
W Clinical and molecular genetic analysis in
Ullrich congenital muscular dystrophy with dominant
and recessive inheritance.
B. Bozorgmehr, A.
Kariminejad, S. Nafisi, U. Andoni, C. Gartioux, C. Ledevil,
V. Allamand, P. Richard, M. Kariminejad.
2437
T Epigenomes landscaped by histone H3K9me3
contribute to the pathology of Huntington’s disease.
J.
Shin, J. Lee, Y. Hwang, W. Lee, J. Wie, K. Kim, M. Lee, D.
Hwang, R. Ratan, N. Kowall, I. So, J. Kim, H. Ryu.
2438
F Novel
PRRT2
mutation in an African-American
family with paroxysmal kinesigenic dyskinesia.
M. S.
LeDoux, J. Xiao, P. Hedera, A. Puschmann, D. Momcˇ ilovic´,
S. W. Wu.
2439
W Incomplete penetrance versus variable
expressivity in del 16p11.2: analysis of cognitive
performance and social functioning as quantitative
rather than dichotomous traits.
A. Moreno-De-Luca, S.
M. Myers, T. D. Challman, D. W. Evans, R. P. Goin-Kochel,
E. Hanson, R. Bernier, L. Green Snyder, J. E. Spiro, W. K.
Chung, J. N. Constantino, D. H. Ledbetter.
2440
T How to best phenotype the broader autism
phenotype in adults.
T. Nishiyama, H. Kishino, K. Okada,
S. Sakai, Y. Kamio, M. Suzuki, K. Adachi, S. Sumi, M.
Kojima, S. Suzuki.
2441
F Executive dysfunction and bipolarity disorder in
school-age children with academic impairment.
F. X.
Coude, C. C. Mignot.
2417
F Identification of microduplications of the
ATRX
gene in autism spectrum disorders.
B. A. Oliveira, I. C.
Conceição, C. Correia, P. Jorge, R. Santos, C. Café, J.
Almeida, S. Mouga, F. Duque, G. Oliveira, A. M. Vicente.
2418
W Alanyl-tRNA synthetase mutation in dominant
distal hereditary motor neuropathy and Charcot-Marie-
Tooth disease.
H. Takashima, A. Hashiguchi, J. Hu, Z.
Zhao, Y. Higuchi, Y. Sakiyama, S. Tokunaga, Y. Okamoto,
A. Yoshimura.
2419
T Association of interleukin 6 gene polymorphisms
with genetic susceptibilities to spastic tetraplegia in
males: A case-control study.
Q. Xing, M. Chen, T. Li, S.
Lin, D. Bi, D. Zhu, Q. Shang, C. Ma, Q. Li, L. He, C. Zhu.
2420
F
ADCYAP1R1
genotype associates with post-
traumatic stress symptoms in highly-traumatized
African American females.
L. M. Almli, K. B. Mercer, H.
Feng, K. N. Conneely, B. Bradley, K. J. Ressler.
2421
W EFHC2 shows female-specific association with
autism.
K. M. Tsang, Y. Cheng, J. F. Quinn, L. A. Weiss.
2422
T Ataxia with oculomotor apraxia type 2 in the
Canadian aboriginal population: Expanding the disease
distribution.
E. R. Dola, J. N. Hartley, F. A. Booth, A. A.
Mhanni.
2423
F Lamin B1 is a novel regulator of myelin and
mediates cell-autonomous neuropathology in a murine
model of autosomal dominant leukodystrophy.
M. Y.
Heng, L. J. Ptacek, Y. H. Fu.
2424
W Weight loss and low serum glucose levels in
Machado-Joseph disease/spinocerebellar ataxia type
3.
L. B. Jardim, G. N. Souza, A. D. Russo, T. L. Monte, R.
M. Castilhos, A. F. S. Schuh, K. C. Donis, R. D’Ávila, T. C.
Gheno, G. V. Furtado, D. O. G. Souza, M. L. Saraiva-Pereira,
L. V. C. Portela, C. R. M. Rieder, J. Dubois, J. A. M. Saute.
2425
T Spinocerebellar ataxias with hypogonadism:
Unraveling a rare group of neuroendocrinologic
syndromes.
C. Lourenco, C. Sobreira, V. Cintra, R.
Giugliani, W. Marques, Jr.
2426
F A neuronal cellular model of 22q11.2 DS exhibits
disruptions to the miRNA regulatory pathway and may
increase the rate of schizophrenia in individuals with
22
q11.2 DS.
W. Manley, M. R. Ababon, P. G. Matteson,
J. H. Millonig, L. M. Brzustowicz.
2427
W Analysis of aging phenotypes from long-term
expression of the progeria mutation in the brain.
J.
Baek, E. Schmidt, S. Rodriguez, C. Strandgren, B. Rozell,
E. Mugnaini, M. Eriksson.
2428
T Neurodegeneration and associated phenotypes
in adults with 22q11.2 deletion syndrome.
N. J. Butcher,
T.-R. Kiehl, E. Chow, E. Rogaeva, A. E. Lang, A. S. Bassett.
2429
F
CXCR4
(
chemokine receptor) expression analysis
in chronic cuprizone mouse model of multiple sclerosis.
G. Celikyapi, T. Avsar, G. Terzioglu, S. Uyar Bozkurt, G.
Yanikkaya Demirel, A. Siva, T. Altug, E. Tahir Turanli.