Page 100 - ASHG 2012 Annual Meeting Program Guide

INVITED AND PLATFORM SESSIONS
89
Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.
INVITED AND PLATFORM SESSIONS
Thursday, November 8
10:30
AM
12:45
PM
Concurrent Platform (abstract-driven)
Session B (29-37)
(
SESSION 32, continued)
122
/12:15
Chipping a hole-in-one from the FAIRE
way: Use of post-GWAS fine-mapping genotyping
arrays for functional variant discovery.
A. J. P.
Smith, F. Drenos, P. Howard, C. Giambartolomei, P. J.
Talmud, V. Plagnol, S. E. Humphries.
123
/12:30
Strong association of one carbon
metabolism genes with stroke and change in post-
methionine load homocysteine levels in the
Framingham Heart and Vitamin Intervention for
Stroke Prevention studies.
S. R. Williams, Q. Yang,
F. Chen, X. Liu, K. Keen, P. Jacques, W. M. Chen,
G. Weinstein, F. C. Hsu, A. Beiser, L. Wang,
K. F. Doheny, P. A. Wolf, M. Zilka, J. Selhub,
B. B. Worrall, S. Seshadri, M. M. Sale, Genomics and
Randomized Trials Network (GARNET).
Thursday, November 8
10:30
AM
12:45
PM
Concurrent Platform (abstract-driven)
Session B (29-37)
SESSION 33 – Clinical Genetics: Mutations, Mutations
and Syndromes
Gateway Ballroom 104, Lower Level South, Moscone
Center
Moderators
:
Nathaniel Robin, Univ. of Alabama at
Birmingham; Anne Slavotinek, UCSF
124
/10:30
Baraitser-Winter syndrome: Delineation
of the phenotypic spectrum in a large series of
molecularly defined patients.
A. Verloes, O. A.
Abdul-Rahman, J. Allanson, J. F. Atkin, M. Baraitser, H.
Brunner, N. Chassaing, K. Devriendt, V. Drouin, A. Fry,
J. P. Fryns, F. Giuliano, K. W. Gripp, D. Lacombe, A.
Lin, G. Mancini, M. Marble, M. Nezarati, M. Nowaczyk,
S. Osimani, M. Rossi, C. Rusu, Y. Sznajer, C. Van
Ravenswaaij, J. Masliah, J. B. Rivière, B. W. M. van
Bon, A. Hoischen, W. Dobyns, D. Pilz.
125
/10:45
Three novel mutations in
MED12
cause
Ohdo syndrome Maat-Kievit-Brunner type.
A. T.
Vulto-van Silfhout, A. Hoischen, B. W. M. van Bon,
W. M. Nillesen, C. Gilissen, F. Gao, J. M. Spaeth, B.
C. Hamel, T. Kleefstra, M. A. A. P. Willemsen, H. van
Bokhoven, H. G. Yntema, B. B. A. de Vries, H. G.
Brunner, T. G. Boyer, A. P. M. de Brouwer.
126
/11:00
Heterogeneity of mutational mechanisms
and modes of inheritance in auriculo-condylar
syndrome.
C. Gordon, A. Vuillot, A. Omarjee, S. Park,
J. Horst, R. McGowan, E. Tobias, S. García-Miñaúr, M.
Bitner, L. Jakobsen, P. Kroisel, A. Stewart, R. Palmer,
A. Munnich, M. Holder, A. Lin, A. Henderson, L. Basel-
Vanagaite, E. Gerkes, L. Wilson, M. Cunningham, S.
Marlin, S. Lyonnet, J. Amiel.
127
/11:15
Genetic heterogeneity of Myhre
syndrome.
C. Le Goff, C. Michot, C. Mahaut,
A. Abhyankar, W. Le Goff, V. Serre, A. Afenjar, A.
Brooks, N. Brunetti-Pierri, P. Campeau, A. Destrée,
M. di Rocco, D. Donnai, R. Hennekam, D. Heron, S.
Jacquemont, S. Mansour, S. Marlin, R. McGowan, H.
Murphy, M. Simon, I. Stolte- Dijkstra, J. Tolmie, R.
Touraine, N. Van der Aa, T. Van Essen, A. Verloes, J. L.
Casanova, A. Munnich, V. Cormier-Daire.
128
/11:30
Seven novel families with ADCL favor
clinical and molecular homogeneity.
C. Bodemer, B.
Callewaert, M. Kempers, E. Bourrat, M. Renard, O.
Vanakker, F. Malfait, J. De Backer, P. J. Coucke, S.
Hadj-Rabia, A. De Paepe.
129
/11:45
Comprehensive clinical and molecular
analysis of 12 families with type I recessive cutis
laxa.
B. Callewaert, C.-T. Su, T. Van Damme, P.
Vlummens, F. Malfait, O. Vanakker, B. Schulz, M. Mac
Neal, E. C. Davis, J. G. H. Lee, A. Salhi, S. Unger, K.
Heimdal, S. De Almeida, U. Kornak, H. Gaspard, J.
L. Bresson, K. Prescott, M. E. Gosendi, S. Mansour,
G. E. Pierard, S. Madan-Khetarpal, F. C. Sciurba, S.
Symoens, P. J. Coucke, L. Van Maldergem, Z. Urban,
A. De Paepe.