Page 254 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
243
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
3197
W SCN1B sequence variations in Iranian patients
with epilepsy, causality or susceptibility?
A. Ebrahimi,
M. Moghaddasi, M. Houshmand, S. Zeinali, S. H.
Tonekaboni, M. S. Fallah, M. Mamarabadi.
3198
F A novel
KCNQ2
mutation in a Mexican-American
family with benign familial neonatal convulsions.
A.
Sznewajs, E. Rider, E. Sherr.
3199
W Coronal craniosynostosis and radial ray
hypoplasia: A third report of
TWIST
mutation in a
33-
week fetus with diaphragmatic hernia.
J. Piard, C.
Collet, F. Arbez-Gindre, L. Van Maldergem.
3200
F Identification of a novel gene causing fetal
akinesia deformation sequence.
M. M. Weiss, G. Tan, M.
Smit, J. I. de Vries, J. P. vd Voorn, I. Kluijt, E. Sistermans,
H. Meijers-Heijboer, S. Groffen, Q. Waisfisz.
3201
W Identification of a new syndrome with severe type
of cutaneous photosensitivity, mild mental retardation
and short stature caused by
KIAA1530
(
UVSSA
)
gene.
R.
Sharifi, A. Ahmadi, E. Ozkan, R. Maroofian.
3202
F Infantile cerebral and cerebellar atrophy
population screening using PCR-RFLP method.
V. Adir,
E. Shahak, E. Golinker, N. Ekhilevitch, Z. U. Borochowitz.
3203
W Genotype-phenotype correlation of enlarged
vestibular aqueduct syndrome.
R. Birkenhager, S. Arndt,
W. Maier, A. Aschendorff, E. Löhle, R. Laszig.
3204
F Molecular diagnosis of congenital muscular
dystrophies with defective glycosylation of alpha
dystroglycan using next-generation sequencing
technology.
J. Chae, B. Lim, J. Ko, J. Choi, M. Wo, W.
Park, B. Min.
3205
W Various clinical manifestations in 40 cases with
type 1 neurofibromatosis.
C. K. Cheon.
3206
F Mutation analysis results of 5 reductase type
2
enzyme deficiency patients.
H. Onay, D. Goksen, A.
Aykut, F. Hazan, S. Darcan, F. Ozkinay.
3207
W Griscelli syndrome with
RAB 27A
mutation and
prenatal diagnosis.
I. Panigrahi, R. Suther, B. Behera, A.
Rawat, R. Marwaha.
3208
F Molecular diagnosis of rare Mendelian diseases
using whole exome sequencing.
B. Rodríguez-Santiago,
S. Boronat, J. Argente, I. Valenzuela, M. del Campo, L. A.
Perez-Jurado, L. Armengol.
3209
W Next-generation sequencing for low and
high-bone density disorders.
G. Sule, P. Campeau, S.
Nagamani, B. Dawson, M. Grover, C. Bacino, J. Lu, E.
Lemire, R. Gibbs, D. Cohn, V. Zhang, L. Wong, B. Lee.
3210
F Molecular diagnosis of autosomal dominant
polycystic kidney disease using massively parallel
sequencing.
Y. Tan, A. Michaeel, G. Liu, J. Blumenfield, S.
Donahue, T. Parker, D. Levine, H. Rennert.
3183
W Complex ear abnormalities, choanal atresia,
coloboma and renal hypoplasia in a patient with
mutations in
CHD7
and
EYA1
and microdeletion of
2
q23.1.
R. Badilla-Porras, L. Dupuis, T. Stockley, D. J.
Stavropoulos, R. Mendoza-Londono.
3184
F Severe
CHST3
mutations in two Brazilian
families with spondyloepiphyseal dysplasia with
congenital joint dislocations.
W. A. R. Baratela, T. F.
Almeida, G. L. Yamamoto, J. H. Marques, O. Letaif, A. C.
Pereira, C. A. Kim, D. R. Bertola.
3185
W Computer-aided facial recognition of
individuals with FG (Opitz-Kaveggia) syndrome caused
by p.Arg961Trp mutation in
MED12
.
L. Basel-Vanagaite,
L. Karlinsky, L. Wolf, M. Shohat, C. Skinner, C. Rogers, R.
Stevenson, C. M. Schwartz, J. M. Graham, Jr.
3186
F Hand abnormalities in Loeys-Dietz syndrome:
Expanding the clinical spectrum.
B. Chung, A. Hinek, T.
Bradley, L. Grossse-Wortmann, S. Blaser, D. Chitayat.
3187
W Gorlin syndrome: Three unrelated female Mexican
cases.
N. O. Dávalos, S. A. Alonso Barragan, I. M. Salazar-
Dávalos, M. A. Aceves-Aceves, S. A. Ramirez-Garcia, L. R.
Topete -Gonzalez, D. A. Fierro-Rodriguez, D. M. Prado, A. R.
Rincon-Sanchez, I. P. Dávalos, D. García-Cruz.
3188
F Diamond-Blackfan anemia: A case report and
seven-year follow up.
M. G. González-Mercado, L.
Bobadilla-Morales, N. O. Dávalos, D. García-Cruz, A. Corona-
Rivera, C. E. Monterrubio-Ledezma, I. M. Salazar-Dávalos, A.
González-Mercado, M. A. Aceves-Aceves, I. P. Dávalos.
3189
W Familial Beare-Stevenson cutis gyrata
syndrome in the absence of craniosynostosis.
E. Leon,
J. Jung, M. Ririe, D. Stevenson.
3190
F Report of a novel mutation in the
SLC26A2
gene
found in a Colombian adult patient with diastrophic
dysplasia.
T. Pineda, A. Rossi, L. Bonafè, A. Superti-
Furga, H. Velasco.
3191
W Intragenic NSD1 duplication of exons 14-17 in a
patient with Sotos syndrome.
S. Ramanathan, R. D. Clark.
3192
F Craniosynostosis as a bone anomaly of Kabuki
syndrome.
A. Shimada, I. Tamada, H. Yoshihashi.
3193
W The variable spectrum of
SMAD4
mutations.
J.
van den Ende, N. Van der Aa, T. Boiy.
3194
F A new frontonasal dysplasia syndrome
associated with
SIX2
deletion.
S. L. Zimmerman, H. M.
Saal, Z. M. Ahmed, R. B. Hufnagel.
3195
W Importance of orofacial features and the role
of dentistry in the early diagnosis of developmental
disorders.
Z. ÷ncel Torun, D. Torun, K. Karaer, R. O. Rosti.
3196
F Renin receptor/
ATP6AP2
gene mutation: An
X-linked cause of mental retardation, postnatal
microcephaly and intractable seizures.
D. Chitayat, K.
Sirewanda, R. Mendoza, S. Blaser, J. Raiman, J. Jessen,
E. Donner, C. Schwartz.