Page 244 - ASHG 2013 Program Guide

POSTER SESSIONS
  231
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
2919
T Cardiovascular manifestations in a family
with GLA nonsense mutation (
W162X
).
E. Severin,
C. Dragomir, A. Stan, G. Sarca.
2920
F Unused Program Number
2921
W Analysis of GH-releasing hormone
(
GHRH),
GHRHR, GH1, PROP1, HESX1
and
GLI2
reveal the
etiology of congenital growth hormone deficienc .
I. J. P. Arnhold, M. M. França, M. G. F. Osorio, S. Marui,
M. Y. Nishi, L. R. Carvalho, A. P. Otto, F. A. Correa, E. F.
Costalonga, A. A. L. Jorge, B. B. Mendonca.
2922
T Somatic mutations in
ATP1A1
and
ATP2B3
lead to aldosterone-producing adenomas and
secondary hypertension.
T. Wieland, F. Beuschlein, S.
Boulkroun, A. Osswald, H. N. Nielsen, U. D. Lichtenauer,
D. Penton, V. R. Schack, L. Amar, E. Fischer, A. Walther,
P. Tauber, T. Schwarzmayr, S. Diener, E. Graf, B. Allolio,
B. Samson-Couterie, A. Benecke, M. Quinkler, F. Fallo,
P.-F. Plouin, F. Mantero, T. Meitinger, P. Mulatero, X.
Jeunemaitre, R. Warth, B. Vilsen, M.-C. Zennaro, T. M.
Strom, M. Reincke.
2923
F A novel homozygous mutation IVS6
1
5
G
.
T of
CYP11B1
gene of patient with Vietnamese congenital
adrenal hyperplasia.
M. T. P. Nguyen, T. H. Nguyen, N. D.
Ngo, C. D. Dung, V. H. Nong, T. L. Nguyen, H. H. Nguyen.
2924
W Alterations in the
PAX8
promoter region
cause thyroid dysgenesis.
P. Hermanns, M. Morlot, M.
Donaldson, J. Jones, P. Pohlenz.
2925
T Shortening the diagnostic odyssey of patients
with very early onset inflammatory bowel disease
S.
Drury, J. Kammermeier, L. Jenkins, M. Elawad, K. Gilmour,
N. Lench, N. Shah.
2926
F Patient derived somatic and induced pluripotent
stem cells as a model for functional assessment
of mutations identified by exome sequencing in
congenital diarrheal disorders.
M. Yourshaw, A. Vega-
Crespo, R. Solorzano-Vargas, J. Wang, S. Stanford, C.
Sosa, S. Nelson, J. Byrne, M. Martín.
2927
W Exome sequencing of a familial trio with a
suspected autosomal dominant idiopathic immune
deficient synd ome identifies novel candidate
mutations in the complement system and two other
genes.
R. Golhar, J. Liang, D. Li, C. Kao, Y. Guo, W. Chen,
L. Tian, F. Wang, J. Synder, N. Abdel-Magid, L. Vazquez,
B. Keating, J. Zhang, H. Hakonarson.
2928
T SNPs associated with cerebrovascular accident
in a Brazilian cohort of sickle cell anemia patients.
P. R. S. Cruz, G. Ananina, F. Menaa, M. A. C. Bezerra,
A. S. Araujo, G. P. Gil, W. M. Avelar, F. Cendes, F. F.
Costa, M. B. Melo.
2929
F Clinical, immunological, and molecular
characterization of
JAK3
deficiency causing seve e
combined immunodeficiency disease in Saudi Arabia
A. Hawwari, H. Al-Shammari, S. Al-Hisi, O. Alsmadi,
H. Al-Dhekri, A. Al-Ghonaium, S. Al-Muhsen, B. Al-Saud,
R. Arnaout, H. Al-Mousa.
2906
W Analysis of the role of GAA repeat expansion
instability in Friedreich ataxia pathology in a
humanized mouse model.
J. Sarsero.
2907
T Beta-glucosidase 2 (
GBA2
),
which is mutated
in inherited spastic paraplegia and cerebellar ataxia,
is sensitive to inhibition by conduritol B epoxide.
A. C.
van der Spoel, C. M. Ridley, K. E. Thur, N. B. Thillaiappan,
A. A. Rahim, S. N. Waddington.
2908
F A biological role for impaired BDNF transcription
in familial dysautonomia.
M. Nilbratt, G. Lee, E. Morini,
S. J. Haggarty, L. Studer, S. A. Slaugenhaupt.
2909
W Species-specific exp ession of acidic
mammalian chitinase in stomach tissues.
M. Ohno, Y.
Togashi, K. Tsuda, K. Okawa, M. Kamaya, M. Sakaguchi,
Y. Sugahara, F. Oyama.
2910
T Quantitative expression analysis of mammalian
chitinases in human and mouse tissues.
F. Oyama, M.
Ohno, Y. Togashi, K. Tsuda, K. Okawa, M. Sakaguchi, Y.
Sugahara.
2911
F Molecular basis of a new form of hyperekplexia.
J. Capo-chichi, S. Boissel, E. Brustein, F. F. Hamdan, M.
Samuels, G. A. Rouleau, P. Drapeau, J. l. Michaud.
2912
W A homozygous missense mutation in
HSPA9
causes epiphyseal-vertebral-ear dysplasia.
J. Amiel, M.
Oufadem, A. Linglart, D. Lehalle, C. Bole, P. Nitschke, A.
Munnich, S. Lyonnet, C. Gordon.
2913
T Autosomal recessive congenital ichthyosis
and related disorders: Mutation in
CERS3
,
coding
for ceramide synthase 3, reveal major puzzle
peaces for the understanding of epidermal barrier
formation.
K. M. Eckl, R. Tidhar, H. Thiele, V. Oji, I.
Hausser, S. Brodesser, M. L. Preil, A. Önal-Akan, F.
Stock, D. Müller, K. Becker, R. Casper, G. Nürnberg,
J. Altmüller, P. Nürnberg, H. Traupe, A. H. Futerman,
H. C. Hennies.
2914
F The centriolar satellite protein AZI1 interacts
with BBS4 and is involved in ciliary trafficking of the
BBSome.
X. Chamling, S. Seo, C. C. Searby, G. H. Kim,
D. C. Slusarski, V. C. Sheffield.
2915
W NPHP10 (
SDCCAG8
)
interacts with components
of the multi-aminoacyl-tRNA synthetase complex.
K. Weihbrecht, M. Humbert, V. Sheffield, S. Seo.
2916
T Fragile X mental retardation protein in cell
differentiation: The MEG-01 as a new study model.
M. Mc Coy, F. Corbin.
2917
F Hypervitaminosis D due to 1,25-(OH)2D-24
hydroxylase (
CYP24A1
)
deficiency causing
nephrocalcinosis and nephrolithiasis.
G. Nesterova,
M. Malicdan, T. Sakaki, M. Collins, D. Adams, C. Boerkoel,
W. Gahl.
2918
W
ARID1B
inhibits WNT signaling through
interaction with BRG1 and
b
-
catenin.
G. Vasileiou, A. B.
Ekici, S. Uebe, J. Behrens, A. Reis, M. V. Hadjihannas.