Page 99 - ASHG 2013 Program Guide

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INVITED AND PLATFORM SESSIONS
Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.
Wednesday, October 23
2:00
PM
–4:15
PM
Concurrent Platform (abstract-driven)
Session A (10-18)
SESSION 16 – Expanding Knowledge of Mendelian
Disorders: Genes, Phenotypes and Treatment
Room 258, Level 2, Convention Center
Moderators
:
Deb Krakow, UCLA; Donna M. Martin,
Univ. of Michigan
61
/2:00
NIH study, Clinical and Molecular
Investigations into Ciliopathies: Findings on
Alström syndrome.
J. D. Marshall, J. Han, J. K.
Naggert, D. Yildirimli, J. Bryant, R. Fischer, W. M. Zein,
K. Daryanani, B. Turkbey, E. Turkbey, C.-Y. Liu, P.
Choyke, T. Heller, D. Rosing, A. Brofferio, V. Sachdev,
L. Olivieri, N. Bridges, J. Graf-Myles, S. Bernstein,
K. Olivier, B. Shamburek, M. Huizing, W. A. Gahl, M.
Gunay-Aygun.
62
/2:15
Genotype/epigenotype/phenotype
correlations define Beckwith-Wiedemann
syndromes.
A. Mussa, A. De Crescenzo, S. Russo,
L. Calzari, N. Chiesa, C. Molinatto, G. Baldassarre, D.
Melis, D. Milani, M. F. Bedeschi, L. Tarani, A. Selicorni,
M. Cirillo Silengo, L. Larizza, A. Riccio, G. B. Ferrero.
63
/2:30
Myhre and LAPS syndromes: Clinical and
molecular review of 32 patients.
C. Michot, C.
Le Goff, A. Afenjar, A. S. Brooks, P. M. Campeau,
A. Destree, M. Di Rocco, D. Donnai, R. Hennekam,
D. Heron, S. Jacquemont, P. Kannu, A. E. Lin,
S. Manouvrier-Hanu, S. Mansour, S. Marlin, R.
McGowan, H. Murphy, A. Raas-Rothschild, M. Rio,
M. Simon, I. Stolte-Dijkstra, J. R. Stone, Y. Sznajer, J.
Tolmie, J. van den Ende, N. Van der Aa, T. van Essen,
A. Verloes, V. Cormier-Daire.
64
/2:45
The phenotype combining Treacher Collins
syndrome features with Diamond-Blackfan anemia
is a heterogeneous ribosomopathy.
K. Sol-Church,
D. Stabley, A. Haskins Olney, C. Curry, J. Fisher, L.
Pilchman, C. Schanen, J. X. Chong, D. E. Ward, K. W.
Gripp, UW Ctr. for Mendelian Genomics.
65
/3:00
Weaver syndrome is caused by loss-of-
function mutations in
EZH2
.
A. S. A. Cohen, D. B.
Yap, X. Han, S. M. E. Lewis, C. Chijiwa, M. A. Ramos-
Arroyo, D. D. Weaver, C. J. D. Ross, S. Aparício, W. T.
Gibson.
66
/3:15
Novel
ELN
mutations and vascular
phenotype in autosomal dominant cutis laxa.
E.
Lawrence, M. McGowan, K. Levine, C. Lorenchick,
S. Alkan, H. Salvaggio, A. Zaenglein, M. Bodzioch, A.
Kiss, M. Siefring, Z. Urban.
67
/3:30
Mutations in
Lrp5
improve bone properties
in a mouse model of osteogenesis imperfecta.
C.
M. Jacobsen, L. A. Barber, U. M. Ayturk, H. J. Roberts,
M. A. Schwartz, M. Weis, D. Eyre, D. Zurakowski, A. G.
Robling, M. L. Warman.
68
/3:45
Teriparatide, the first anabolic agent for
treatment of osteogenesis imperfecta improves
bone mineral density at the hip and spine: A
randomized, blinded, placebo-controlled trial.
S. C.
Sreenath Nagamani, J. Shapiro, S. Veith, Y. Wang, J.
Lapidus, J. L. Reeder, T. M. Keaveny, D. Lee, M. A.
Mullins, B. Lee, E. S. Orwoll.
69
/4:00
Integrin modulating therapies prevent
fibrosis and autoimmunity in genetic mouse
models of scleroderma.
E. E. Gerber, E. M. Gallo, S.
C. Fontana, E. C. Davis, X. Zhong, F. M. Wigley, D. L.
Huso, H. C. Dietz.