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Friday, October 14
4:15
PM
–6:15
PM
Concurrent Platform Session C (51-60)
SESSION 57 – Cardiovascular Genetics II: Single Gene
and Chromosomal Conditions
Room 516, Level 5, Convention Center
Moderators:
Joanne Dixon, Wellington Hosp., New
Zealand; John Belmont, Baylor Col of Med., USA
211
/4:15
Two new genes for dominant and
recessive pseudohypoaldosteronism type II provide
novel insights into regulation of serum potassium,
pH, and blood pressure.
L. M. Boyden, K. A. Choate,
M. Choi, C. J. Nelson-Williams, A. Farhi, R. P. Lifton.
212
/4:30
Identification of a susceptibility gene for
Moyamoya disease,
RNF213
by a genome-wide
association study.
S. Kure, F. Kamada, Y. Aoki, Y.
Abe, S. Komatsuzaki, A. Kikuchi, J. Kanno, T. Niihori,
M. Fujimura, Y. Mashimo, M. Ono, N. Ishii, Y. Owada,
Y. Suzuki, A. Hata, T. Tominaga, Y. Matsubara.
213
/4:45
FBN1
susceptibility loci associated with
thoracic aortic aneurysm and aortic dissection
disease spectrum.
M. N. McDonald, S. A. Lemaire, D.
Guo, L. Russell, C. C. Miller, III, R. J. Johnson, M. R.
Bekheirnia, L. M. Franco, M. Nguyen, R. E. Pyeritz, J.
E. Bavaria, R. Devereux, C. Maslen, K. W. Holmes, K.
Eagle, S. C. Body, C. Seidman, J. G. Seidman, E. M.
Isselbacher, M. S. Bray, J. S. Coselli, A. L. Estrera, H.
J. Safi, J. W. Belmont, S. M. Leal, D. M. Milewicz.
214
/5:00
A major modifier locus for vascular
disease in Marfan syndrome.
A. Doyle, K. Kent, H.
Dietz.
215
/5:15
Exome sequencing identifies
SMAD3
mutations causing familial thoracic aortic
aneurysm and dissection with intracranial and
other arterial aneurysms.
E. S. Regalado, L. Gong,
C. Villamizar, D. C. Guo, N. Avidan, D. Gilchrist, B.
McGillivray, L. Clarke, F. Bernier, R. L. Santos-Cortez,
S. M. Leal, A. M. Bertoli-Avella, J. Shendure, M. J.
Rieder, D. A. Nickerson, D. M. Milewicz, NHLBI GO
Exome Sequencing Project.
216
/5:30
Bone morphogenic protein receptor 2
alternative splicing has a role in the reduced
penetrance seen in autosomal dominant heritable
pulmonary arterial hypertension.
R. Hamid, L.
Hedges, B. Womack, J. Phillips, J. Cogan.
217
/5:45
Intracranial aneurysm risk locus 5q23.2 is
associated with elevated systolic blood pressure:
Evidence for pathomechanism of a complex
disease locus.
E. I. Gaál, P. Salo, M. Niemelä, K.
Kristiansson, M. Günel, M. S. Nieminen, J. Sinisalo,
M.-L. Lokki, A. Jula, O. Raitakari, T. Lehtimäki, J.
Eriksson, E. Widen, M. Kurki, M. Fraunberg, K.
Rehnström, J. E. Jääskeläinen, J. Hernesniemi, A.
Palotie, V. Salomaa, M. Perola, ICBP GWAS.
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperation
218
/6:00
The 22q11.2 deletion syndrome: Second
hit copy number variants and conotruncal heart
defects.
M. B. Sheridan, T. Guo, D. McDonald-
McGinn, M. Bowser, M. Xie, X. Gai, J. C. Perin, A.
Bassett, E. Chow, A. Blonska, A. Shanske, F. Beem
K. Devriendt, M. C. Digilio, B. Marino, B. Dallapiccol
A.-M. Higgins, N. Philip, T. J. Simon, K. Coleman, W
Kates, M. Devoto, E. Zackai, J. Ott, D. Heine-Suñer,
Shaikh, R. Shprintzen, B. Morrow, B. E. Emanuel,
International Chromosome 22q11.2 Consortium.