Page 185 - ASHG 2013 Program Guide

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POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
1398
T Androgen receptor gene polymorphism is
associated with impulsivity in women with alcoholism.
A. M. Manzardo, D. Mettman, E. C. Penick, A. B. Poje,
M. G. Butler.
1399
F Analysis of
KDM5C
defects associated with
ARX
epilepsy-related mutants and evaluation of rescue
strategies.
L. Poeta, A. Padula, F. Fusco, C. Shoubridge,
G. Manganelli, S. Filosa, P. Collombat, G. Friocourt, M.
Passafaro, K. Helin, L. Altucci, S. Gustincich, J. Gecz, M.
V. Ursini, M. G. Miano.
1400
W Validation of a robust PCR-only assay for
quantifying
FMR1
CGG repeats on clinical samples.
J. K. Moore, M. J. Basehore, G. Filippov, K. Adler, M. J.
Friez, M. Schermer.
1401
T AGG interruptions affect the risk of having
a child with fragile X syndrome: A follow-up study.
C. Yrigollen, B. Durbin-Johnson, R. Hagerman, L. Zhou,
E. Berry-Kravis, F. Tassone.
1402
F Applying NGS to familial ALS cohorts to identify
novel genes.
K. L. Williams, J. A. Fifita, G. A. Nicholson,
I. P. Blair.
1403
W Founder mutation for Huntington disease in
Caucasus Jews.
H. N. Baris, O. Melamed, C. Bram,
N. Magal, E. Pras, H. Reznik-Wolf, Z. U. Borochowitz,
B. Davidov, R. Mor-Cohen, D. M. Behar.
1404
T TDP43 interact with Pur
a
and rescue
the neurodegeneration caused by expanded
hexanucleotide GGGGCC repeat.
J. Li, M. Poidevin,
W. Thomas, P. Jin.
1405
F A predictive model for the
MAOA
promoter VNTR
and its application in public GWAS datasets.
T. Wang, A.
Lu, V. Rao, S. deJong, R. M. Cantor, R. A. Ophoff.
1406
W MSH3 polymorphisms and protein levels
affect CAG repeat instability in Huntington’s disease
mice.
S. Tome, K. Manley, J. Simard, G. W. Clark, M. S.
Slean, M. Swami, P. F. Shelbourne, E. R. M. Tillier, D. G.
Monckton, A. Messer, C. E. Pearson.
1407
T
Mlh1
and
Mlh3
modify CAG instability in
Huntington’s disease mice: Genome-wide and
candidate approaches.
R. Mouro Pinto, E. Dragileva,
A. Kirby, A. Lloret, E. Lopez, J. St. Claire, G. B. Panigrahi,
C. Hou, K. Holloway, T. Gillis, J. R. Guide, P. E. Cohen,
G. M. Li, C. E. Pearson, M. J. Daly, V. C. Wheeler.
1408
F Small molecule ligand distorts RNA
G-quadruplex structure of the disease-associated
r(GGGGCC)n repeat of the
C9orf72
gene and blocks
interaction of RNA-binding proteins.
C. E. Pearson,
B. Zamiri, K. Reddy, R. Macgregor.
1409
W Haplotype analyses in 15 Brazilian and Peruvian
families with spinocerebellar ataxia type 10.
M. L.
Saraiva-Pereira, T. C. Gheno, G. V. Furtado, J. A. M.
Saute, K. C. Donis, A. M. V. Fontanari, V. E. Emmel, J. L.
Pedroso, O. Barsottini, C. Godeiro, H. van der Linden, E. T.
Pereira, W. Marques-Junior, R. M. Castilhos, I. Alonso,
J. Sequeiros, M. Cornejo-Olivas, P. Mazzetti, V. L. Torman,
L. B. Jardim, Rede Neurogenetica.
1387
F The rare
TREM2
variant R47H has a modest
effect on Alzheimer’s disease risk.
A. R. Parrado, K.
Mullin, W. K. Yip, B. Hooli, T. Liu, C. Lange, L. Bertram,
R. E. Tanzi.
1388
W Sequencing of coding region of the
CNTNAP2
in
individuals with autism spectrum disorders.
K. P. Pena
Gonzalez, L. M. Munera Salazar, O. A. Moreno Ramos, M.
C. Lattig, Liga Colombiana de Autismo (LICA).
1389
T Exploring the genetic landscape of Parkinson’s
disease: An exome study in Sardinia, a Mediterranean
genetic isolate.
M. Quadri, X. Yang, G. Cossu, S. Olgiati,
V. Saddi, G. Breedveld, L. Ouyang, J. Hu, N. Xu, J.
Graafland, V. Ricchi, D. Murgia, L. Correia Guedes, S.
Tesei, M. J. Marti, P. Tarantino, S. Asselta, F. Valldeoriola,
M. Gagliardi, G. Pezzoli, M. Ezquerra, A. Quattrone, J. J.
Ferreira, G. Annesi, S. Goldwurm, E. Tolosa, B. Oostra,
M. Melis, J. Wang, V. Bonifati.
1390
F Genetic epidemiological study on migraine
and episodic ataxia in the Japanese population.
Y.
Takahashi, H. Ishiura, J. Goto, S. Tsuji.
1391
W Whole transcriptome analysis by next-
generation sequencing in autism spectrum disorders.
C. Zusi, P. Prandini, G. Malerba, L. Xumerle, R. Galavotti,
A. Pasquali, C. Patuzzo, V. Mijatovic, R. Ciccone, M.
Fichera, M. C. Bonaglia, E. Trabetti, P. F. Pignatti.
1392
T Investigating the association between
OPA1-AS1
gene variants and autosomal dominant
optic atrophy.
I. Nakata, K. Linkroum, W. Abdrabou,
M. Janessian, E. Gaier, D. M. Cestari, S. Lessell, J. Rizzo,
J. L. Wiggs.
1393
F Exome sequencing on samples with bipolar
disorder: A preliminary survey.
T. Zhang, F. J. McMahon,
D. T. Chen, J. C. Wang, J. P. Rice.
1394
W Exploration of brain-specific somatic
mutations with massively parallel sequencing data
derived from human postmortem brain.
M. Nishioka,
M. Bundo, J. Ueda, S. Murayama, K. Kasai, T. Kato,
K. Iwamoto.
1395
T Identification of new genes and pathways for
rare infantile forms of spinal muscular atrophy and
arthrogryposis.
L. Baumbach-Reardon, J. M. Hunter,
M. E. Ahearn, J. Kiefer, C. Balak, G. Lambert, J. Getz,
D. Duggan, B. Wirth, W. Tembe, C. Legendre, W. Liang,
A. Kurdoglu, J. Corneveaux, M. Huentelman, D. Craig,
J. Carpten, J. Hall.
1396
F Genetics of spinocerebellar ataxias in
Portuguese families: Screening for
SCA15
,
SCA28
and
SCA36
.
J. R. Loureiro, A. I. Seixas, J. L. Loureiro,
A. Carracedo, M. J. Sobrido, P. Coutinho, J. Sequeiros,
I. Silveira.
1397
W Repeat interruptions in spinocerebellar ataxia
type 10 expansions are strongly associated with
epileptic seizures.
K. N. McFarland, J. Liu, I. Landrian,
S. Raskin, M. Moscovich, E. M. Gatto, H. A. G. Teive,
A. Ochoa, A. Rasmussen, T. Ashizawa.