Page 155 - ASHG 2012 Annual Meeting Program Guide

144
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
zinc-finger mutations lead to phenotype-correlated
impairment of the transcription factor function.
J. Ghoumid, L. Drévillon, SM. Alavi-Naini, M. Rio, A.
Briand-Suleau, L. Goodwin, P. Raymond, N. Bondurand,
C. Yanicostas, M. Goossens, S. Lyonnet, D. Mowat, N.
Soussi-Yanicostas, J. Amiel, I. Giurgea.
844
F Methylation status of a vault RNA, VTRNA2-1
(
MIR886), is co-segregated with neural tube defects in
Chinese Han families.
W. Li, C. Cai.
845
F A high frequency of genomic disorders in
patients with congenital kidney malformations.
S.
Sanna-Cherchi, K. Kiryluk, K. E. Burgess, M. Bodria, M.
G. Sampson, D. Hadley, S. N. Nees, M. Verbitsky, V. J.
Lozanovski, A. Materna-Kiryluk, B. J. Perry, N. Ristoska-
Bojkovska, M. Zaniew, H. Flogelova, K. Drnasin, V. Goj,
R. P. Lifton, L. N. Clark, M. Saraga, A. F. Dominiczak, L.
Gesualdo, Z. Gucev, L. Allegri, A. Latos-Bielenska, D.
Cusi, F. Scolari, V. Tasic, H. Hakonarson, G. M. Ghiggeri,
A. G. Gharavi.
846
F Genome-wide screening and proteome analysis
of developing mice diastema region.
J. Y. Kim, W. J.
Sohn, Y. M. Chae, Y. J. Jin, B. J. Han, Y. K. Lee, J. K. Jung,
S. H. Kim, M. O. Kim, J. Y. Suh, S. Lee.
847
F Foxl2, as Sox9, is involved in skeletal
development through its role in cartilage maturation
and bone mineralization.
L. Marcia, A. Puddu, M. Lovicu,
R. Piras, D. Schlessinger, A. Forabosco, M. Uda, L.
Crisponi, M. Marongiu.
848
F Expression and functional analysis of MMACHC
during mammalian development.
M. Moreno-Garcia, M.
Pupavac, D. S. Rosenblatt, L. A. Jerome-Majewska.
849
F Three novel human
VANGL1
gene mutations in
144
Slovakian, Romanian and German patients with
neural tube defects.
O. Bartsch, I. Kirmes, A. Thiede, S.
Lechno, H. Gocan, I. S. Florian, T. Haaf, U. Zechner, L.
Sabova, F. Horn.
850
F Identification of a new ENU-induced mouse
model for neural tube defects.
S. Lachance, M. C.
Guyot, M. Justice, Z. Kibar.
851
F Involvement of sperm microRNAs in unidentified
male factor infertility.
M. G. Katz-Jaffe, B. R. McCallie, J.
Stevens, W. B. Schoolcraft.
852
F Comparison of the osteogenic potential of adult
stem cells from different sources.
R. Fanganiello, F.
A. A. Ishiy, L. P. Capelo, M. Aguena, D. F. Bueno, B. V. P.
Almada, M. T. Martins, M. R. Passos-Bueno.
853
F The NINDS repository’s publicly accessible
collections of highly characterized induced pluripotent
stem cells and primary fibroblasts.
C. Tarn, K. Fecenko-
Tacka, M. O’Rourke, K. Panckeri, C. Rhoda, S. Heil, K.
Hodges, M. Sutherland, R. Corriveau, M. Self.
854
F Deciphering the
Hmx1
pathway in the mouse
retina.
A. Boulling, D. F. Schorderet.
conditional knockout mice.
J. E. Roger, H. Breit, D.
Cheng, L. Dong, A. Swaroop.
831
F Uncovering the function of TMED2 during
trophoblast differentiation.
T. Heba, A. Zakariyah, L. A.
Jerome-Majewska.
832
F Mouse models of neurodevelopmental disorders:
Overlap between FoxG1 and MeCP2.
S. A. Adams, R.
Woods, S. Luu, J. M. LaSalle.
833
F Comprehensive characterization of a zebrafish
model for pseudoxanthoma elasticum.
M. J. Hosen, O.
M. Vanakker, A. Willaert, A. Huysseune, P. J. Coucke, A.
De Paepe.
834
F Mouse model reveals the role of
SOX7
in the
development of congenital diaphragmatic hernia
associated with recurrent deletions of 8p23.1.
D. A.
Scott, M. J. Wat, T. F. Beck, A. Hernández-García, Z. Yu,
D. Veenma, M. Garcia, A. M. Holder, J. J. Wat, Y. Chen, C.
A. Mohila, K. P. Lally, M. Dickinson, D. Tibboel, A. de Klein,
B. Lee.
835
F Generation and characterization of humanized
DUF1220 transgenic mice.
J. G. Keeney, N. Anderson, D.
Restrepo, J. M. Sikela.
836
F Overexpression of Sox9 in keratinocytes changes
hair follicle cycling in mice.
Y. Zhang, Z. H. Zheng, Y. Q.
Xu, S. L. Zhou, L. Shi, X. Zhang.
837
F Integration of BAC transgenesis, evolutionary
conservation, 3C, DNaseHS, and ChIP on chip data
identifies a candidate osteoblast enhancer of
Bmp2
.
E. M. Broeckelmann, S. Pregizer, D. P. Mortlock.
838
F The role of Filamin b in skeletogenesis and BMP
signaling in mice.
J. Zieba, A. Sarukhanov, M. Ivanova, A.
S. Kim, A. E. Merrill, D. Krakow.
839
F The role of SOX7 in cardiovascular
development.
A. Hernández-Garcia, M. Wat, M. Garcia,
T. F. Beck, Z. Yu, R. Schwartz, M. Dickinson, B. Lee, D.
A. Scott.
840
F Novel mouse models reveal the role of in the
development of inner ear phenotypes seen in 1p36
deletions.
H. Zaveri, B. J. Kim, O. A. Shchelochkov, F. A.
Pereira, A. K. Groves, J. S. Oghalai, M. Justice, B. Lee, D.
A. Scott.
841
F
Xenopus laevis
,
a model for studying
the involvement of HDAC6 in a novel form of
chondrodysplasia.
K. Massé, C. Blanchard, D. Simon,
M. Barillot, P. Helwi, C. Durand, P. Babin, A. Tingaud, P.
Thiebaud, N. Thézé, D. Lacombe, B. Arveiler.
842
F Genetic interaction between Sox10 and
b
1
integrins during enteric nervous system
development.
Y. Watanabe, F. Bondon-Broders,
P. Paul-Gilloteaux, B. Prosper, V. Baral, S. Dufour,
N. Bondurand.
843
F Mowat-Wilson syndrome associated
ZEB2