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533F Genetic and functional analyses of SHANK2
mutations support a multiple hit model of autism
spectrum disorders.
C. S. Leblond, J. Heinrich, R.
Delorme, C. Betancur, G. Huguet, M. Rastam, J. Melke, B.
Regnault, D. Skuse, M. Poot, A. P. Monaco, I. Jarvela, S.
Curran, S. M. Klauck, C. M. Freitag, E. Bacchelli, A.
Battaglia, L. Mazzone, A. Vicente, G. Oliveira, S. W.
Scherer, M. Lathrop, F. Devillard, B. Assouline, M. C.
Mouren, M. Leboyer, C. Gillberg, T. M. Boeckers, T.
Bourgeron.
534F Genetic variation in dopaminergic and
cholinergic signaling moderates smoking-induced
dopamine release.
T. M. Levin, E. L. Nurmi, K. S. Mallya,
K. Ta, J. La Charite, J. T. McCracken, A. L. Brody.
535F Calcium channel genes are associated with
autism spectrum disorders and their defining features.
A. Lu, R. M. Cantor.
536F Comprehensive resequencing of
PEX5
,
PEX13
and
PEX14
gene in patients with X-linked
adrenoleukodystrophy (ALD) and association studies
with the phenotypes of ALD.
T. Matsukawa, Y.
Takahashi, J. Goto, Y. Suzuki, N. Shimozawa, H. Takano,
O. Onodera, M. Nishizawa, S. Tsuji.
537F The application of whole-exome resequencing to
identify the genetic basis of a novel autosomal
recessive syndrome characterized by epilepsy,
microcephaly and cognitive impairment.
L. M.
McDonell, D. Foster, FORGE Canada Consortium, D. E.
Bulman, K. M. Boycott.
538F Spastic paraplegia due to CYP7B1 mutations
(SPG5) : What can we learn about 27-
hydroxycholesterol metabolism?
F. Mochel, F. Lamari, D.
Rinaldi, C. Goizet, D. Rainteau, V. Ratziu, A. Durr.
539F Challenges in interpreting copy number
alterations in regions associated with autism:
Deletions and duplications within the AUTS2 gene.
R.
E. Pyatt, A. Bailes, A. McKinney, A. Brock, C. Deeg, L.
Erdman, C. Weber, J. Weslow-Schmidt, L. M. Lehwald, L.
Konczal, P. Nash, E. de Los Reyes, M. Miller, R. B. Pfau,
J. Atkin, G. Herman, D. L. Thrush, S. Hashimoto, S.
Reshmi, C. Astbury, J. M. Gastier-Foster.
540F Temporal gene expression of
bdnf
and
ntrk2b
in
adult zebrafish after pentilenotetrazole-evoked seizure.
F. C. Reis-Pinto, R. F. P. Mangolin, P. G. Barbalho, C. V.
Maurer-Morelli.
541F Evaluation of the predisposition to autism using a
combination of risk-associated common variants.
T.
Rio Frio, F. Rousseau, K. Fontaine, C. Vazart, C. Amiet, F.
Liebaert, J. Carayol.
Friday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
The Exhibit Hall will close at 4:30 pm.
542F Rare de novo and transmitted mutations in
autistic spectrum disorders.
M. Ronemus, D. Levy, I.
Iossifov, Y.-H. Lee, S. Gilman, R. Demeter, V. Magrini, A.
Leotta, S. Marks, J. Kendall, K. Ye, A. Buja, A. Krieger,
Lakshmi, S. Yoon, J. Troge, L. Rodgers, P. Andrews, I.
Hakker, J. Rosenbaum, B. Yamrom, E. Mardis, R. Wilso
M. Schatz, D. Vitkup, R. McCombie, M. Wigler.
543F Genetic predictors of knee pain in persons wit
mild to moderate osteoarthritis.
D. Schutte, N.
Mukhopadhyay, C. Vance, R. Walder, K. Sluka, B. Rakel
M. Govil.
544F An investigation of neurogenetic correlates of
early-age physiological stress response: A prospecti
study.
H. Sheikh, E. Hayden, K. Kryski, H. Smith, S.
Singh.
545F Exome sequencing approach to identify the
responsible variant for a novel type of hereditary
motor and sensory neuropathy with proximal
dominancy in the lower extremities found in a
Japanese descent.
H. Shibata, S. Miura, H. Kida, K.
Noda, Y. Kaku, A. Iwaki, M. Ayabe, T. Taniwaki, Y.
Fukumaki.
546F Absolute quantification of survival motor neuro
transcripts in whole blood samples from controls,
carriers, spinal muscular atrophy patients and post-
treatment carnival type 1 patients.
L. R. Simard, F. D.
Tiziano, E. Slominski, J. T. Kissel, C. B. Scott, S. P. Rey
B. Elsheik, T. O. Crawford, K. J. Krosschell, G. Ascadi,
K. Schroth, G. D’Anjou, B. LaSalle, T. W. Prior, S.
Sorenson, J. Maczulski, M. B. Bromberg, G. M. Chan,
J. Swoboda, Project Cure SMA Investigators Network.
547F Genetic influence on anti-JC-virus antibody
seropositivity in MS patients and controls.
E.
Sundqvist, C. Warnke, M. Khademi, L. Alfredsson, J.
Hillert, S. Goelz, I. Kockum, T. Olsson.
548F Resequencing-based case control study of
SQSTM1
for sporadic amyotrophic lateral sclerosis
based on common disease-multiple rare variant
hypothesis.
Y. Takahashi, J. Goto, S. Tsuji.
549F PLA2G6 in patients with Parkinson’s disease /
frontotemporal type of dementia.
H. Tomiyama, H.
Yoshino, K. Ogaki, L. Li, C. Yamashita, Y. Li, M.
Funayama, R. Sasaki, Y. Kokubo, S. Kuzuhara, N. Hatto
550F The pervasive neurologic phenotype of mild
Chediak-Higashi syndrome.
C. Toro, A. Cullinane, W.
Westbroek, M. Huizing, C. Groden, W. Gahl, W. Introne.
551F Combined linkage and genome-wide associati
analysis of multiple schizophrenia (SZ) and bipolar
data (BP) sets from public repositories reveals striki
new evidence of distinct and overlapping genes.
V. J
Vieland, K. A. Walters, K. Tobin, M. Azaro, T. Lehner, L.
Brzustowicz.