Page 91 - ASHG 2012 Annual Meeting Program Guide

80
INVITED AND PLATFORM SESSIONS
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SESSION 19 – Vascular and Congenital Heart Disease
Room 123, Lower Level North, Moscone Center
Moderators
:
Amy Roberts, Children’s Hosp. Boston;
Bart L. Loeys, Univ. of Antwerp., Belgium
79/
10:30
Heterozygous germline mutations in a
prototypical TGF repressor cause Shprintzen-
Goldberg syndrome with aortic aneurysm.
A. J.
Doyle, J. J. Doyle, M. E. Lindsay, S. L. Bessling, N.
Huso, D. Schepers, L. Gillis, G. Mortier, L. Van Laer,
D. W. Mohr, M. J. Caulfield, A. F. Scott, C. J. Curry, B.
Loeys, A. S. McCallion, H. C. Dietz.
80/
10:45
Loss-of-function mutations in
TGFB2
cause Loeys-Dietz syndrome: Towards solving the
TGF paradox in aortic aneurysmal disease.
B. Loeys, M. E. Lindsay, D. Schepers, N. Ajit Bolar,
J. Doyle, E. Gallo, J. Fert-Bober, M. J. E. Kempers,
E. Fishman, Y. Chen, L. Myers, D. Bjeda, G. Oswald,
B. M. Anderlid, M. Y. Yang, E. M. H. F. Bongers,
J. Timmermans, A. C. Braverman, N. Canham,
G. R. Mortier, H. G. Brunner, P. H. Byers, J. Van Eyk,
L. Van Laer, H. Dietz.
81/
11:00
Genetic dissection of aortic disease in the
Marfan syndrome.
F. Ramirez, L. Carta, M. Del Solar,
M. Lindsay, H. Dietz, J. R. Cook.
82/
11:15
Bicuspid aortic valve, aortic coarctation
and patent ductus associated with
MATR3
disruption in human and mouse.
F. Quintero-
Rivera, Q. J. Xi, K. M. Keppler-Noreuil, J. H. Lee, A.
W. Higgins, R. Anchan, A. E. Roberts, G. A. P. Bruns,
R. Berezney, B. D. Gelb, R. V. Lacro, D. J. Harris,
A. Kamp, I. P. Moskowitz, W. Lu, C. C. Morton, J. F.
Gusella, R. L. Maas.
83/
11:30
Identification of the cause of blue rubber
bleb nevus syndrome.
J. Soblet, N. Limaye, M.
Cordisco, A. Dompmartin, O. Enjolras, S. Holden, A.
D. Irvine, C. Labrèze, A. Lanoel, P. N. Rieu, S. Syed,
C. J. van der Vleuten, R. Watson, S. J. Fishman, J. B.
Mulliken, L. M. Boon, M. Vikkula.
84
/11:45
Identifying genetic determinants of
congenital heart defect in Down syndrome.
M. R.
Sailani, P. Makrythanasis, S. Deutsch, A. Valsesia,
E. Migliavacca, F. Santoni, A. Sharp, C. Serra-Juhe,
S. Vicari, R. Rabionet, Y. Grattau, G. Dembour, A.
Megarbane, R. Touraine, S. Kitsiou, H. Fryssira, C.
Chatzisevastou-Loukidou, E. Kanavakis, G. Merla, L.
Perez-Jurado, X. Estivill, J. Delabar, S. E. Antonarakis.
85
/12:00
Transcriptome-wide decreased variation
in gene expression of Down syndrome fibroblasts:
Selection or canalization?
K. Popadin, A.
Letourneau, F. Santoni, S. E. Antonarakis.
86
/12:15
Mutations in
OLFML2B
within the QT
interval associated region 1q23.3 disturb cardiac
repolarization, predispose to Long-QT syndrome
and to sudden infant death syndrome.
A. Pfeufer,
C. Congiu, Z. Schäfer, H. Prucha, M. Vennemann,
I. Sinicina, N. Strutz-Seebohm, H. Kartmann, M.
Schell, E. Kremmer, E. R. Behr, N. H. Bishopric, R. J.
Myerburg, L. Crotti, P. J. Schwartz, A. A. Hicks, P. P.
Pramstaller, W. Rottbauer, S. Kääb, T. Meitinger, M.
Näbauer, M. Cohen, M. Donner, D. T. Mage, H. W.
Mewes, T. Bajanowski, G. Seebohm, M. Ueffing, C. J.
Gloeckner.
87
/12:30
The impact of inherited genetic variants
associated with lipid profile, hypertension, and
coronary artery disease on the risk of intracranial
and abdominal aortic aneurysms.
F. N. G. van `t
Hof, Y. M. Ruigrok, A. F. Baas, L. A. L. M. Kiemeney,
S. H. Vermeulen, A. G. Uitterlinden, F. Rivadeneira, A.
Hofman, G. J. E. Rinkel, P. I. W. de Bakker.
Wednesday, November 7
10:30
AM
–12:45
PM
Concurrent Platform (abstract-driven)
Session A (11-19)