Page 234 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
223
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
2711
T Severe familial growth hormone deficiency due
to defective U12-dependent processing of pituitary
developmental genes.
L. A. Perez-Jurado, R. Flores, G.
A. Martos-Moreno, I. Cuscó, J. Argente.
2712
F Impaired energy homeostasis and arrested
maturation underlie neutrophil dysfunction in glycogen
storage disease type Ib.
H. S. Jun, D. A. Weinstein, Y. M.
Lee, B. C. Mansfield, J. Y. Chou.
2713
W A novel mutation in
PSTPIP1
is responsible
for PAPA syndrome in a Jordanian child.
H. El-Shanti,
F. Al-Amri, B. Fathalla, S. Al-Dosari, M. Al-Mutawa, M.
Kambouris.
2714
T Prevalence of
anti3.7 triplication in beta-
thalassemia carriers in south of Iran.
G. Shariati,
M. Hamid, A. H. Saberi, B. Sharififard, B. Keikhaei, M.
Pedram.
2715
F Mutational analysis of Korean patients with
Diamond-Blackfan anemia.
H. Chae, J. Park, M. Kim, A.
Kwon, S. Lee, Y. Kim, J. W. Lee, N. G. Chung, B. Cho, D.
C. Jeong.
2716
W Apoptosis is responsible for neutropenia in
Cohen syndrome.
L. Duplomb, L. Faivre, A. Hammann,
G. Jego, N. Droin, E. Lopez, B. Aral, N. Gigot, S. El
Chehadeh, F. Huet, P. Callier, J. Thevenon, V. Carmignac,
C. Capron, M.-A. Gougerot-Pocidalo, F. Girodon, J.-N.
Bastie, L. Delva, C. Thauvin-Robinet.
2717
T A novel pig model of SCID; A tool for cancer and
immune research.
N. M. Ellinwood, E. H. Waide, D. M.
Thekkoot, N. Boddicker, R. R. R. Rowland, E. M. Snella, J.
K. Jens, C. R. Wyatt, J. W. Ross, D. Troyer, C. K. Tuggle, J.
C. M. Dekkers.
2718
F Polymorphism in the
HMOX-1
gene is associated
with high levels of HbF in Brazilian patients with sickle
cell anemia.
M. B. Melo, G. P. Gil, G. Ananina, M. B.
Oliveira, M. J. Silva, M. N. N. Santos, M. A. C. Bezerra, B.
L. D. Hatzlhofer, A. S. Araujo, F. F. Costa.
2719
W Beta-thalassemia in the Aegan Region of
Turkey: Identification of a novel deletion mutation.
F.
Ozkinay, H. Onay, E. Karaca, E. Arslan, A. Ece, B. Erturk,
M. Tekin, O. Cogulu, Y. Aydinok, C. Vergin.
2720
T Development of a diagnostic panel for
genetic immunodeficiencies using next-generation
sequencing.
E. M. Coonrod, J. Durtschi, A. Kumanovics,
R. L. Margraf, H. R. Hill, K. V. Voelkerding.
2721
F Spectrum of gene mutations in Chinese patients
with refractory human herpes viruses associated
disease.
H. Liu, F. Wang, Y. Zhang, Y. Wang, W. Teng, L.
Guo, C. Tong, T. Wu, Y. Zhao, J. Gu, D. Lu.
2722
W Exome sequencing identifies missense
IRF2BP2
mutation in a family with autosomal dominant common
variable immunodeficiency.
L. Tian, D. Li, M. Keller, K.
Cecilia, E. Frackelton, F. Otieno, H. Hakonarson, J. S.
Orange.
2700
F Role of SP1-binding site polymorphism of
COLIAI
gene and a sequence variation 713-8 del C of
TGF 1 polymorphism in osteoporosis in thalassemia
major patients.
S. Agarwal, K. Singh, R. Kumar.
2701
W Loss-of-function mutations in
IGSF1
cause
a novel X-linked syndrome of TSH deficiency and
macroorchidism.
M. Breuning, Y. Sun, B. Bak, N.
Schoenmaker, A. S. P. van Trotsenburg, P. Voshol, E.
Cambridge, J. White, P. le Tisser, S. Mousavy Gharavy, J.
Martinez-Barbera, W. Oostdijk, L. Persani, P. Beck-Peccoz,
T. Davis, A. Hokken-Koelega, C. Ruivenkamp, J. F.J. Laros,
M. Kriek, S. Kant, J. T. den Dunnen, R. Hennekam, K.
Chatterjee, M. Dattani, J. Wit, D. Bernard.
2702
T Hyperphagia, leptin, and brain-derived
neurotrophic factor in subjects with Alström syndrome
and BMI-Z matched controls.
M. D. Hicks, J. D.
Marshall, P. Maffei, A. E. Hanish, L. A. Hunter, S. M. Brady,
N. M. Sedaka, R. Sherafat Kazemzadeh, J. W. Tsao, G.
Milan, J. Naggert, J. A. Yanovski, J. C. Han.
2703
F The Euro-WABB Registry: Differences in molecular
genetic confirmation between monogenic Wolfram,
Alström, and Bardet-Biedl syndromes.
A. Farmer, S. Ayme,
P. Maffei, S. Mccafferty, R. Sinnott, W. Mlynarski, V. Nunes, V.
Paquis, K. Parkinson, V. Tillman, T. Barrett.
2704
W Biallelic
RFX6
inactivation can cause intestinal
atresia with childhood rather than neonatal onset
diabetes.
F. H. Sansbury, R. Caswell, H. Lango Allen, S. E.
Flanagan, B. Kirel, S. Ellard, A. T. Hattersley.
2705
T Identification of a de novo mutation in the
thyroid hormone receptor gene in a Colombian family
with RTH.
M. C. Lozano, L. Mejia, P. Duran, C. Lattig.
2706
F Use of lineage markers to predict founder effect
of E180Splice mutation in
GHR
gene causing Laron
syndrome: A witness of Jewish exodus.
F. T. Goncalves,
C. Fridman, E. M. Pinto, Z. Laron, J. Guevara-Aguirre, F.
G. Carsola, D. Damiani, T. S. Lins, O. Shevah, V. Hwa, A.
L. Rosembloom, R. G. Rosenfeld, U. P. Arnhold, A. A. L.
Jorge.
2707
W Genetics of congenital hypogonadotropic
hypogonadism in Denmark.
J. Tommiska, P.
Christiansen, N. Jørgensen, J. Lawaetz, A. Juul, T. Raivio.
2708
T A rare gain-of-function mutation in an
inhibitory upstream open reading frame in
CDKN1B
5’
untranslated region causes MEN4 phenotype.
G. Occhi,
D. Regazzo, G. Trivellin, F. Boaretto, D. Ciato, S. Ferasin, F.
Cetani, E. Pardi, M. Korbonits, N. Pellegata, G. Opocher, F.
Mantero, C. Scaroni.
2709
F Next-generation sequencing to identify cryptic
ABCC8 and HADH splice site mutations in patients
with congenital hyperinsulinaemic hypoglycaemia.
S.
Ellard, R. Caswell, M. Weedon, K. Hussain, S. E. Flanagan.
2710
W
ABCC8
and
KCNJ11
gene mutational analysis
in Slovenian patients with neonatal diabetes and
congenital hyperinsulinism.
K. Trebusˇak Podkrajsˇek, M.
Avbelj, T. Hovnik, N. Bratina, N. Bratanicˇ, T. Battelino.