Page 245 - ASHG 2012 Annual Meeting Program Guide

234
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
2966
T Mutation of the
EYS
gene implicated in
autosomal recessive retinitis pigmentosa leads to
abnornmal cellular aggregates and cell death.
W.
Mustill, P. Kruczek, A. C. Zelhof, S. S. Bhattacharya.
Prenatal, Perinatal and
Reproductive Genetics
2967
T Mitochondrial DNA variations in human ova
and blastocyst and its clinical implications and IVF
outcome.
M. Shamsi, G. Periyasamy, L. Chawla, N.
Malhotra, N. Singh, S. Mittal, P. Talwar, K. Thangaraj, R.
Dada.
2968
T Cumulus cell microRNA profiles are associated
with oocyte aneuploidy.
B. R. McCallie, J. C. Parks, N.
Treff, R. T. Scott, W. B. Schoolcraft, M. G. Katz-Jaffe.
2969
T Prenatal diagnosis of sirenomelia by combining
two-dimensional ultrasound, new fetal skeletal
rendering, three-dimensional helical computer
tomography and magnetic resonance imaging.
X.-L.
Chen, R. Liu, X.-H. Yang, N. Zhong.
2970
T Comparative study on quantitative parameters
of blood perfusion and microvessel density in placenta
of rat model of preeclampsia evaluated with contrast-
enhanced ultrasound.
Y.-Q. Xu, X.-L. Chen, X.-J. Lu,
X.-H. Yang, P.-W. Chen, J.-H. Huang, C. Huang, Z.-L. Lu,
N. Zhong.
2971
T Prenatal ultrasound and autopsy findings in
Simpson-Golabi-Behmel syndrome.
K. Chong, J.
Jessen, M. Injeyan, K. Fong, S. Salem, S. Keating, P.
Shannon.
2972
T Testing the most frequent genetic diseases
optimizes abnormal gene identity and test accuracy
worldwide.
R. Lebo.
2973
T Single nucleotide polymorphism based method
for fetal fraction quantification in maternal plasma
using massively parallel sequencing.
G. Hogg, J. Tynan,
M. Tang, S. Sovath, A. Maer, D. van den Boom, P. Oeth.
2974
T The Pregnancy and Health Profile Pilot Project:
Evaluating the impact of integrating a novel family
history and genetic screening tool on patients,
providers, and clinical practice.
E. Edelman, B. Lin, T.
Doksum, B. Drohan, K. Hughes, S. Dolan, V. Edelson, J.
O’Leary, L. Vasquez, S. Copeland, J. Scott.
2975
T Chromosomal structural abnormalities among
Filipino couples with recurrent pregnancy losses.
E. C.
Cutiongco-de la Paz, A. D. Berboso, E. G. Salonga, C. M.
David-Padilla.
2976
T Factor II G20210A and factor V G1691A
mutations and methylenetetrahydrofolate reductase
C677T polymorphism in 155 women with repeated
pregnancy loss.
S. Seyedhassani, M. Houshmand, M.
Neshan, F. Saeb.
2953
W Exocrine and endocrine pancreatic damage in
cystic fibrosis are associated with
SLC26A9
.
D. Soave,
T. Chiang, M. Miller, D. Su, K. Keenan, W. Li, W. Ip, F.
Wright, S. Blackman, H. Corvol, M. Knowles, G. Cutting,
M. Drumm, L. Sun, J. Rommens, P. Durie, L. Strug.
2954
T Clinical findings of a three-generation family
with GLA nonsense mutation (W162X).
E. Severin, A.
Stan, C. Dragomir, G. J. Sarca.
2955
F Targeted array-CGH analysis to identify copy-
number changes underlying ciliopathies.
A. Lindstrand,
C. Carvalho, D. Pehlivan, R. D. Clark, C. A. Johnson, H.
Omran, B. Franco, H. Kremer, P. L. Beales, P. J. Scambler,
E. R. Maher, J. R. Lupski, N. Katsanis.
2956
W Is the R202Q mutation clinically relevant in
familial Mediterranean fever, though?
S. Duzenli, A. O.
Arslan.
2957
T Molecular basis of microphthalmia/
anophthalmia.
N. Chassaing, A. Causse, A. Delahaye, A.
Vigouroux, P. Calvas.
2958
F Identification and functional investigation of
non-coding NIPBL regulatory elements.
D. Braunholz,
J. Wilde, L. D. Michelis, K. S. Wendt, E. Watrin, J. Eckhold,
I. D. Krantz, G. Gillessen-Kaesbach, M. A. Deardorff, F. J.
Kaiser.
2959
W Molecular genetic studies of nonsyndromic
oculocutaneous albinism in the Pakistani population.
T. Jaworek, T. Kausar, N. Tariq, S. Sadia, M. I. Maqsood,
A. Sohail, M. A. Bhatti, M. Ali, S. Riazuddin, R. S. Shaikh,
Z. M. Ahmed.
2960
T A case of lymphedema with microcephaly and
chorioretinopathy with a mutation in the
KIF11
gene.
D.
Finegold, E. Lawrence, K. Levine, R. Ferrell.
2961
F miRNA-411 negatively regulates YAF2 and
myogenic factors.
Y. Chen, N. Harafuji, P. Schneiderat,
M. C. Walter.
2962
W Transcriptional profiling in facioscapulohumeral
muscular dystrophy to identify candidate biomarkers.
F. Rahimov, O. D. King, D. G. Leung, G. M. Bibat, C. P.
Emerson, Jr., K. R. Wagner, L. M. Kunkel.
2963
T The second most prevalent mutation of
fukutin
in
Japanese Fukuyama muscular dystrophy.
K. Kobayashi,
R. Kato, E. Kondo, M. Osawa, K. Saito, T. Toda.
2964
F Molecular study of
KRT14
mutations for making
a screening panel test for Iranian patient affected with
epidermolysis bullosa.
M. Mahdavi, M. Moghaddam, A.
Kakavand, N. Hatamnejadian, B. Sedaghati Khayat, H.
Dehghanpour, A. Ebrahimi.
2965
W Mutations in
ANO5
in the Norwegian limb
girdle muscle dystrophy population.
M. Van Ghelue,
M. Ingebrigtsen, A. Skogstad, B. Hestholm, C. Wahl, S.
I. Mellgren, F. Rasmussen, M. Rasmussen, B. Karimé, C.
Jonsrud.