Page 240 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
229
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
2855
T Characterization of transient receptor potential
vanilloid channel 4 in metatropic dysplasia primary cell
lines.
L. M. Hurd, S. M. Kirwin, K. M. Vinette, M. B. Bober,
W. G. Mackenzie, R. L. Duncan, V. L. Funanage.
2856
F Exome sequencing identifies a de novo
missense mutation in
TGF-
b
1
in a sporadic patient
with craniotubular bone dysplasia.
D. Li, A. Haghighi,
F. Salehzade, L. Tian, H. Haghighi-Kakhki, C. Kim, E.
Frackelton, F. Otieno, H.-D. Nah, H. Hakonarson.
2857
W An intracellular role for FGFR2 in bent
bone dysplasia syndrome.
C. L. Neben, B. Idoni, A.
Sarukhanov, D. Krakow, A. E. Merrill.
2858
T
ZDHHC13
is a key regulator in postnatal
epiphyseal development.
I. W. Song, W. R. Li, J. Y. Wu,
M. T. Lee, Y. T. Chen.
2859
F Identification of novel genes downstream of
FGFR2 contributing to coronal suture synostosis in
a murine model for Crouzon syndrome.
S. Kumar, E.
Peskett, J. A. Britto, E. Pauws.
2860
W Identification of copy number variants in
413
isolated talipes equinovarus patients: role of
transcriptional regulators of limb development.
D. M.
Alvarado, J. G. Buchan, S. L. Frick, J. E. Herzenberg, M.
B. Dobbs, C. A. Gurnett.
2861
T Mutation of
B3GAT3
causes skeletal dysplasia
in a consanguineous clan from Nias.
B. S. Budde, S.
Mizumoto, R. Kogawa, C. Becker, J. Altmüller, H. Thiele,
P. Frommolt, M. R. Toliat, J. M. Hämmerle, W. Höhne, K.
Sugahar, P. Nürnberg, I. Kennerknecht.
2862
F Mutation analysis of the
BIN1
gene performed
to evaluate the cause of centronuclear myopathy in
two fetuses of consanguineous parents from Sudan.
N.
Dohrn, A. Petersen, P. Skovbo, I. S. Pedersen, A. Ernst, H.
Krarup, M. B. Petersen.
2863
W Novel
ROR2
mutations in patients with autosomal
recessive Robinow syndrome.
J. Mazzeu, H. Kayserilli,
C. A. Kim, D. Brunoni, P. C. Pieri, A. Richieri-Costa, H. van
Bokhoven, H. G. Brunner, A. M. Vianna-Morgante.
2864
T Whole exome sequencing identifies mutations
in the nucleoside transporter gene
SLC29A3
in
dysosteosclerosis, a form of osteopetrosis.
P. Campeau,
J. T. Lu, G. Sule, M.-M. Jiang, Y. Bae, S. Madan, W. Högler,
N. J. Shaw, S. Mumm, R. A. Gibbs, M. P. Whyte, B. H. Lee.
2865
F Polymorphisms in osteoporosis and their
associations with bone metabolism.
R. Richterová, P.
Cibulková, A. Bóday, D. Stejskal, P. Novosad, P. Fojtík, P.
Hrdý.
2866
W Combination of whole-genone cytogenetics
array, high-throughput SNP genotyping, homozygosity
mapping and Sanger sequencing identify
FXN
gene
expansion leading to axonal peripheral neuropathy and
ataxia phenotype in two consanguineous families from
North West Africa.
H. Azzedine, B. Hubert, W. Amer, F.
Ferrat, M. Chaouch, F. Lagace, R. Fetni, C. Paisan-Ruiz.
2843
T A novel
GUCY2D
mutation, V933A, causes
central areolar choroidal dystrophy.
A. E. Hughes, W.
Meng, A. J. Lotery, D. T. Bradley.
2844
F Novel splice site mutations in
NPHS1
gene in
Indian congenital nephrotic syndrome patients.
S.
Sharma, A. Bagga, M. Kabra.
2845
W Genetic basis of prune belly syndrome:
Screening the candidate genes.
L. Baker, S. Harrison, C.
Granberg, C. Villanueva.
2846
T DNA copy-number variations in persistent
cloaca patients.
S. Harrison, L. Baker.
2847
F Whole genome sequencing reveals a deletion
of the last exon of
FAN1
in Basenji dogs with adult-
onset Fanconi syndrome.
G. S. Johnson, F. H. Farias,
T. Mhlanga-Mutangadura, J. F. Taylor, D. P. O’Brien, R. D.
Schnabel.
2848
W Formation of a novel N-glycosylation motif in
integrin 3 due to a rare
ITGA3
gene polymorphism
causes congenital nephrotic syndrome and interstitial
lung disease.
K. Y. Renkema, N. Nicolaou, C. Margadant,
S. H. Kevelam, M. R. Lilien, M. J. S. Oosterveld, M. Kreft,
A. M. van Eerde, R. Pfundt, P. A. Terhal, B. van der Zwaag,
N. Sachs, R. Goldschmeding, N. V. A. M. Knoers, A.
Sonnenberg.
2849
T Defining the phenotypic specificity of Schimke
immuno-osseous dysplasia.
M. Morimoto, C. Myung,
K. Beirnes, D. Leung, H. K. Fam, K. Choi, Y. Huang, C. F.
Boerkoel.
2850
F High-throughput mutation analysis in patients
with a nephronophthisis-associated ciliopathy applying
multiplexed barcoded array-based PCR amplification
and next-generation sequencing.
E. A. Otto, J. Halbritter,
K. Diaz, B. Tarrier, M. Chaki, C. Fu, J. L. Innis, S. J. Allen,
R. H. Lyons, C. J. Stefanidis, H. Omran, N. A. Soliman.
2851
W Founder mutation in
RPSPH4A
identified in
patients of Hispanic descent with primary ciliary
dyskinesia.
M. A. Zariwala, M. W. Leigh, S. D. Davis, M.
C. Armstrong, M. L. Daniels, J. L. Carson, M. Hazucha, S.
S. Dell, M. R. Knowles, Genetic Disorders of Mucociliary
Clearance Consortium.
2852
T Leri’s pleonosteosis results from defective
SMAD signaling.
S. Banka, S. Cain, J. Urquhart, S. Carim,
S. Daly, G. Erdem, M. Bottomley, D. Donnai, B. Kerr, H.
Kingston, C. Kielty, W. G. Newman.
2853
F Abnormal type I collagen folding and matrix
deposition in a cyclophilin B KO mouse model of
recessive osteogenesis imperfecta.
W. A. Cabral, E.
Makareeva, M. Weis, S. Leikin, D. R. Eyre, J. C. Marini.
2854
W Differential contributions of P3H1 to collagen
processing in the pathogenesis of osteogenesis
imperfecta.
E. P. Homan, C. Lietman, I. Grafe, J.
Lennington, R. Morello, W. R. Hogue, D. Napierala, M.
M. Jiang, B. Dawson, T. K. Bertin, Y. Chen, R. Lua, O.
Lichtarge, J. Hicks, M. A. Weis, D. R. Eyre, B. Lee.