Page 240 - ASHG 2013 Program Guide

POSTER SESSIONS
  227
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
2818
T Myocardial thickness and ventricular Tei index
by echocardiography among normal developing
fetuses.
Y.-H. Zhang, Q.-Y. Cao, J. Ge, N. Zhong.
2819
W Harlequin ichtyosis: A rare case of two
consecutive harlequin ichthyosis in the offspring of a
sequindigravida.
O. Franciska, R. Santos.
2820
T Prenatal presentation of fetal anemia associated
with
gdb
-
thalassemia: Two new cases.
E. Gagne,
Y. Sabr, M. F. Delisle, N. Kent, T. Nelson, L. A. Brown,
K. Schlade-Bartusiak, P. C. Rogers, S. Pritchard, L. D.
Wadsworth, N. Au.
2821
W Aicardi-Goutières syndrome carrier screening
in Ashkenazi Jewish families.
C. Jalas, A. Fedick,
C. Landau, C. Halberstam, A. Shaag, W. K. Chung,
J. G. Pappas, E. S. Moran, J. Roberts, N. R. Treff, M.
Szynkiewicz, G. Rice, Y. J. Crow, O. Elpeleg, S. Edvardson.
2822
T Quantification of total and fetal cell-f ee DNA
in patients with abnormal maternal serum screen
parameters.
I. Manokhina, T. K. Singh, M. Peñaherrera, W.
P. Robinson.
2823
W De novo mutations in embryonic development
and early lethality.
A. Hoischen, C. Serra-Juhé, C.
Gilissen, M. Steehouwer, J. A. Veltman, L. A. Pérez-Jurado.
2824
T Non-invasive prenatal Sscreening: Are we
providing a false sense of security?
S. Klugman, B.
Suskin, K. Erskine, N. Kirshenbaum, S. Dolan.
2825
W Two unrelated cases of female fragile X carriers
with proximal duplication of non-repetitive DNA
sequence within the CGG repeat region of the
FMR1
gene.
J. Skeen, J. Coppinger, J. McCarver, R. Cao, S.
Filipovic-Sadic, L. Schnetzler, D. Sevilla, J. Weisberger,
A. Hadd, S. Nolin, R. Zimmerman, G. Latham.
2826
T Non-invasive prenatal testing: Proceed
with caution. A case of trisomy 18 mosaicism in a
phenotypically normal newborn.
H. Welsh, H. Ardinger,
M. Begleiter, L. Zhang, L. Cooley.
2827
W Detection of carriers of rare and novel
mutations using next-generation DNA sequencing.
V. Greger, C. J. Kennedy, K. Casey, N. Chennagiri, C.
Perreault-Micale, S. Hallam.
2828
T Cree leukoencephalopathy and Cree
encephalitis carrier screening: Retrospective
evaluation of a population-based program.
A. M.
Laberge, J. Leclerc-Blain, G. A. Mitchell, B. Wilson,
A. Bearskin, V. Gosselin, J. Torrie, A. Richter.
2829
W Y-chromosome partial deletions and male
infertility in Indian sub-continent.
S. Rajender, D. Jaiswal,
K. Kumar, D. S. Rani, K. Singh, R. Dada, K. Thangaraj.
2830
T
MTHFR
C677T polymorphism in Mexican
patients with polycystic ovary syndrome.
I. M. Salazar-
Dávalos, N. Suárez-Magaña, J. P. Mena, M. Salazar-
Páramo, E. Chávez, M. A. Aceves-Aceves, N. O. Dávalos,
M. G. González-Mercado, F. Grover-Páez, I. P. Dávalos.
2806
T A GC polymorphism associated with serum
25(
OH)D level is the risk for hip fracture in Japanese
patients with rheumatoid arthritis.
S. Yoshida, K. Ikari,
T. Furuya, Y. Toyama, A. Taniguchi, H. Yamanaka, S.
Momohara.
2807
F Fetal alcohol syndrome and assessment
of maxillary and mandibular arc measurements.
K. Abell, W. May, P. May, W. Kahlberg, G. Hoyme,
O. Abdul-Rahman.
2808
W Genetic analysis of gonadal disorders of
sex development (46,XY DSD) by cytogenetic and
molecular methods.
A. Shojaei, F. Baghbani-Arani, R.
Ebrahimzadeh-Vesal, F. Behjati, J. Tavakkoly-Bazzaz.
2809
T Beckwith-Wiedemann syndrome: A familial case
report.
M. A. Aceves-Aceves, I. M. Salazar-Dávalos, M.
G. González-Mercado, R. E. Jiménez-Arredondo, S. A.
Alonso-Barragán, M. Salazar-Páramo, N. O. Dávalos, D.
García-Cruz, C. Roa, I. P. Dávalos.
2810
F Gastric necrosis and dilation with or without
rupture a cause of death in Prader-Willi syndrome:
Three new case reports with a review of the mortality
literature and an update in causes of death in PWS.
J. A. Gold, R. T. Rivera, J. Heinemann, A. Scheimann,
P. J. Gold, S. B. Cassidy, J. L. Miller.
2811
W The coordination of rare diseases at Sanford
(
CoRDS) patient registry for all rare diseases and
those undiagnosed.
E. A. Donohue, N. A. Simpson, R. M.
Bourscheid, D. A. Pearce.
2812
T Homoplasmy of a mitochondrial 3697G
.
A
mutation causes Leigh syndrome.
Y. Negishi,
A. Hattori, E. Takeshita, C. Sakai, N. Ando, T. Ito,
Y. Goto, S. Saitoh.
2813
F Defining the undefined congenital myopathies
Pathological findings and clinical featu es.
L. C.
Swanson, P. D. S. C. Ciarlini, A. H. Beggs.
2814
W Molecular and clinical study of 30 Angelman
syndrome patients with
UBE3A
mutations.
K. Hosoki,
S. Saitoh.
2815
T Stargardt disease, a clinical description.
L. Mora,
M. Tamayo, F. Rodriguez, M. Valencia.
2816
F Mixed phenotype of incontinentia pigmenti and
anhidrotic ectodermal dysplasia with immunodeficienc
in a patient with duplication of the
IKBKG
gene.
A. Ramalingam, E. van Asbeck, T. J. Chen, E. Morava.
Prenatal, Perinatal and Reproductive
Genetics
2817
W Single molecule targeted sequencing of
long fragments (
.
1
kb) for ovarian hypersensitivity
syndrome.
F. Orkunoglu-Suer, A. Harralson, D. Frankfurter,
P. Gindoff, E. Hoffman, T. J. O’Brien.