Page 256 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
245
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
3247
W Twin discordance and congenital
hydrocephalus.
C. Lee, J. T. C. Shieh.
3248
F Hallermann-Streiff Syndrome: Case report from
Mongolia.
P. Erkhembulgan, M. Purevdorj, T. Altansukh, I.
Purevdorj.
3249
W Global gene profiling identifies a novel
cytoskeleton pathway involved in VCP-associated
myopathy.
A. Nalbandian, S. Ghimbovschi, S. Radom-
Aizik, E. Hoffman, V. Kimonis.
3250
F External validation of the Bartholdi clinical
scoring system for Silver-Russell syndrome: A report
of a Brazilian cohort.
G. L. Yamamoto, A. Bonaldi, A. M.
Vianna-Morgante, I. Gomy, C. A. Kim, D. R. Bertola.
Evolutionary and Population Genetics
3251
W Copy number differences of putative regulatory
elements shape primate expression profiles.
R. Iskow,
O. Gokcumen, A. Abyzov, J. Malukiewicz, Q. Zhu, A.
T. Sukumar, A. A. Pai, R. E. Mills, L. Habegger, D. A.
Cusanovich, M. A. Rubel, G. H. Perry, M. Gerstein, A. C.
Stone, Y. Gilad, C. Lee.
3252
T Linkage disequilibrium, population structuring
and genome-wide association studies reveal
metabolism and craniofacial dysmorphology mutations
in the domestic cat.
L. A. Lyons, H. Alhaddad, B.
Gandolfi, R. A. Grahn.
3253
F Genome-wide scan for identifying selection
footprints in immune related pathways.
J. Molineros,
S. Nath.
3254
W Signatures of selection surrounding large
insertions and deletions in coding regions identified
between modern and Denisovan humans, as well
as four other species of primates genome-wide.
W.
Guiblet, K. Zhao, D. Ferrer-Torres, C. T. Ruiz-Rodriguez, A.
Roca, S. Massey, J. C. Martínez-Cruzado, T. Oleksyk.
3255
T An optimized panel for ancestry informative
markers derived from the Mexican Genome Diversity
Project.
J. C. Fernandez-Lopez, A. V. Contreras, M. J.
Gómez-Vázquez, C. Rangel-Escareño, I. Silva-Zollezzi.
3256
F A fish-specific transposable element shapes the
repertoire of p53 target genes in zebrafish.
M. N. Loviglio,
L. Micale, M. Manzoni, C. Fusco, B. Augello, E. Migliavacca,
G. Cotugno, E. Monti, G. Borsani, A. Reymond, G. Merla.
3257
W Meiotic recombination hotspots in humans:
Dynamics and controlling factors.
L. Odenthal-Hesse,
A. J. Jeffreys.
3258
T The MHC linkage haplotype in the Finnish
population.
A. Wennerström, M. L. Lokki, MHC Disease
Research Group.
3259
F Fine-scale mapping of meiotic recombination in
Mongolians and Koreans.
T. Bleazard, Y. S. Ju, J. Sung,
J. S. Seo.
3234
F Identification of X-linked
RPGR
ORF15
mutations in females diagnosed with autosomal
dominant retinitis pigmentosa.
J. D. Churchill, S. J.
Bowne, L. S. Sullivan, R. A. Lewis, D. K. Wheaton, D. G.
Birch, K. E. Branham, J. R. Heckenlively, S. P. Daiger.
3235
W A recurrent 143 kb duplication in TSPAN7 as
a possible cause of intellectual disability.
J. Hoyer, M.
Krumbiegel, C. Kraus, A. Reis.
3236
F Alpha thalassemia /mental retardation X linked:
An uncommon presentation.
U. H. Kotecha, R. Puri, C.
Badens, I. C. Verma.
3237
W Proteolipid protein 1 gene mutation in 44
Chinese patients with Pelizaeus-Merzbacher disease
and prenatal diagnosis of five fetuses in three Chinese
families with PMD probands.
J. Wang, D. Li, Y. Wu, H.
Zhao, J. Shang, J. Qin, F. Fang, X. Wu, Y. Jiang.
3238
F Four years of data from the California Cystic
Fibrosis Newborn Screening Program and experiences
of the Sutter CF Center.
M. Tsang, B. Chipps, M.
Kharrazi, K. Pearson, S. O’Bra.
3239
W Polymicrogyria awareness is a critical first
step in facilitating early diagnosis and intervention for
those affected by this rare congenital brain anomaly.
C.
Byrge, A. Perszyk, PMG Awareness Organization, Inc.
3240
F Novel
KIF7
mutations extend the phenotypic
spectrum of acrocallosal syndrome.
A. Putoux, S.
Nampoothiri, V. Cormier-Daire, N. Laurent, P. Beales, A.
Schnizel, D. Bartholdi, C. Alby, S. Thomas, N. Elkhartoufi, J.
Litzler, F. Encha-Razavi, R. Kannan, A. Munnich, L. Faivre,
N. Boddaert, A. Rauch, M. Vekemans, T. Attie-Bitach.
3241
W Goldberg-Shprintzen syndrome: KBP, the
KIAA1279
encoding protein, is located to cytoskeleton,
but not to mitochondria.
L. Drévillon, A. Megarbane, B.
Demeer, C. Matar, P. Benit, A. Briand-Suleau, J. Ghoumid,
M. Nasser, V. Bodereau, M. Doco-Fenzy, P. Rustin, D.
Gaillard, M. Goossens, I. Giurgea.
3242
F Craniofacial and dental development in cardio-
facio-cutaneous syndrome: The importance of Ras
signaling homeostasis.
A. Goodwin, S. Oberoi, M.
Landan, C. Charles, J. Groth, A. Martinez, C. Fairley, W. E.
Tidyman, L. A. Weiss, O. D. Klein, K. A. Rauen.
3243
W Sotos syndrome diagnosis confirmed by aCGH.
F. I. Sahin, Y. K. Terzi, M. Derbent.
3244
F Expanding (or narrowing) the phenotype of
Beckwith-Wiedemann syndrome.
E. Todd, G. Bellus.
3245
W Genetic studies in VACTERL association.
J. Winberg, P. Gustavsson, E. Sahlin, G. Annerén,
E. Iwarsson, P.-J. Svensson, F. Bradley, E. Nordenskjöld,
N. Papadogiannakis, A. Nordgren, A. Nordenskjöld.
3246
F A homozygous
AHI1
mutation in a Moroccan
consanguineous Joubert syndrome family.
L. Baala, S.
Chafai Elalaoui, M. Chalon, N. Elkhartoufi, M. Mansouri, Y.
Kriouele, O. Perche, S. Briault, T. Attie, A. Sefiani.