Page 256 - ASHG 2013 Program Guide

POSTER SESSIONS
  243
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
3181
W Mutations in
MAP3K1
tilt the balance from
SOX9/FGF9
to WNT/
b
-
catenin signaling.
J. C. Loke, A.
Pearlman, H. Ostrer.
3182
W Losartan increases bone mass by direct
inhibition of osteoclasts.
S. Chen, T. Sibai, N. Rianon, T.
Yang, J. Black, E. Munivez, T. Bertin, B. Dawson, Y. Chen,
B. Lee.
3183
W The role of the
ELOVL
gene family in
neurodevelopmental disorders.
J. Gerard, A. Moreno-
De-Luca, D. W. Evans.
3184
W
AKT1
gene mutation levels are correlated
with the type of dermatologic lesions in patients
with Proteus syndrome.
M. J. Lindhurst, J. Wang, H.
Bloomhardt, A. M. Witkowski, L. N. Singh, D. P. Bick, M.
J. Gambello, C. M. Powell, C. R. Lee, T. N. Darling, L. G.
Biesecker.
3185
W Function of miR-199a-5p in stage-specific
osteogenesis of human mesenchymal stem cells.
S.
Gu, X. Chen, B. F. Chen, G. Li, H. W. Ouyang, C. Wan, T. L.
Lee, W. Y. Chan.
3186
W DFLAT: Functional annotation for human
development.
H. C. Wick, D. P. Hill, H. Drabkin, H. Ngu,
M. Sackman, C. Fournier, J. Haggett, J. A. Blake, D. W.
Bianchi, D. K. Slonim.
3187
W Transcriptome and pathway analysis of fetal
and adult human retina, RPE, and choroid.
A. S. Boleda,
M. Brooks, A. Maminishkis, S. Miller, A. Swaroop.
Cytogenetics
3188
T Ring chromosomes aberrations at a pediatric
Mexican hospital: Two cases with mosaicism of
chromosome 13, 46XY/46, XY, r (13) and chromosome
18, 46,
XY/46, XY, r (18).
M. Hurtado-Hernadez, J. M.
Aparicio-Rodriguez, M. Barrientos-Perez, S. Chatelain-
Mercado.
3189
F Inverted duplication with terminal deletions:
Variations on a theme.
N. Christacos, S. Schonberg, C.
Lau, J. Kelly, P. Mowrey.
3190
T Infertility related to a rearrangement of the Y
chromosome.
P. A. Delgado, S. Iyer, A. Jarrin, N. Rao, C.
A. Tirado.
3191
F A further case of de novo isochromosome
18
q with additional skeletal system abnormalities.
E.
Karaca, T. R. Ozdemir, A. Durmaz, F. Ozkinay, O. Cogulu.
3192
T Tetrasomy 13q32.2qter due to an apparent
inverted duplicated neocentric marker chromosome
in an infant with hemangiomas, failure to thrive,
laryngomalacia, and tethered cord.
J. Liu, M. Del
Vecchio, D. Pezanowski, H. Punnett, J. P. de Chadarévian.
3167
W Reappraising the child and adult findings f om
Eastern Quebec kindreds: A protective-compensatory
model may reconcile the genetic and the
developmental findings in schizophrenia.
M. Maziade, T.
Paccalet, M. Battaglia.
3168
W Heritability of obesogenic growth trajectories
during development in a model system.
C. Schmitt, S.
Service, R. Cantor, A. Jasinska, M. Jorgensen, J. Kaplan,
N. Freimer.
3169
W Functional assessment of type 2 diabetes-
associated loci in pancreatic
b
-
cell specification
E. A.
Robb, N. A. Zaghloul.
3170
W Recapitulation of metatropic dysplasia
phenotypes in mice expressing mutant
TRPV4
.
M. M.
Weinstein, S. W. Tompson, Y. Chen, B. Lee, D. H. Cohn.
3171
W Mandibular
Prdm16
expression is critical to
normal secondary palate formation in the mouse.
B. C.
Bjork, L. N. Furlan, B. T. Nelson, L. Pitstick.
3172
W Mouse models reveal an essential role for
RERE
in eye development.
B. Kim, O. Shchelochkov, M.
Justice, B. Lee, D. Scott.
3173
W Functional and mutational analysis of long-
range enhancers of
ZIC3
in patients with congenital
heart defects and laterality in zebrafish models
J.
Marino, S. Hook, P. Hu, R. Hart, E. Rossler, J. A. Towbin, J.
W. Belmont, L. Ribeiro-Bicudo, M. Muenke.
3174
W Functional characterization of
Gli2
in normal
breast development and in breast cancer.
C. Zhao, P.
A. Beachy.
3175
W Modeling
Foxf1
deficiency and ove expression
in mice.
A. V. Dharmadhikari, B. Carofino, M. G. Hill, X.
Ren, T. V. Kalin, J. Zabielska, W.-Y. Wan, T. Majewski, H. B.
Brown, A. Gambin, P. Szafranski, V. V. Kalinichenko, M. J.
Justice, P. Stankiewicz.
3176
W Transgenic zebrafish exp essing mutant
skeletal muscle actin
acta1a
genes model human
nemaline myopathy.
O. Ceyhan, A. H. Beggs.
3177
W Zebrafish
ptk7
loss-of-function mutants reveal
useful genetic models for human congenital and
idiopathic scoliosis.
M. Hayes, B. Ciruna.
3178
W FGF ligands regulate chondrocyte
differentiation in the proximal limb.
I. H. Hung, D. M.
Ornitz, G. C. Schoenwolf, M. Lewandoski.
3179
W The maternal polymorphism rs2236131 in
ITPK1
gene is associated with neural tube defects in a high-risk
Chinese population.
Z. Guan, J. H. Wang, J. Guo, F. Wang,
X. W. Wang, G. N. Li, Q. Xie, X. Han, B. Niu, T. Zhang.
3180
W
SPECC1L
deficiency causes neural c est
cell delamination and migration defects in orofacial
clefting.
I. Saadi, N. R. Wilson, A. J. Olm-Shipman, E.
Kosa, D. S. Acevedo, K. M. Stumpff, G. Smith, L. Pitstick,
B. C. Bjork, A. Czirok.