Page 246 - ASHG 2013 Program Guide

POSTER SESSIONS
  233
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
2965
F Late-onset sacsinopathy diagnosed by exome
sequencing and comparative genomic hybridisation.
A. Pyle, H. Griffin, J. Duff, S. Zwolinski, T. Smertenko,
P. Yu-Wai-Man, M. Santibanez-Koref, R. Horvath, P. F.
Chinnery.
2966
W Autosomal-recessive spastic ataxias:
Systematic whole exome sequencing of a large cohort
reveals novel phenotypes and gene candidates.
R.
Schüle, M. Gonzalez, J. Reichbauer, A. Caballero Oteyza,
S. Wiethoff, M. Dobler, U. Gaiser, T. Rattay, K. Karle, L.
Schols, S. Zuchner, M. Synofzik.
2967
T A dominantly inherited syndrome of adult-onset
tremor, ataxia, parkinsonism, seizures and sensory
neuropathy associated with c.970-1 GA
PolG2
splice
site mutation.
L. Van Maldergem, R. W. Taylor, R. Van
Coster, G. Stevanin, A. Rolfs, M. Humble, E. Blakely, L. He,
J. Piard, B. Depaepe, P. Hella, F. G. Debray, J.-J. Martin, J.
Bergmans, P. Laloux, A. Durr, S. Forlani, W. C. Copeland,
E. Mormont.
2968
F Successful collaborative data mining for novel
neuromuscular genes in Genomes Management
Application (GEM.app).
S. Zuchner, F. Speziani, A.
Abrams, A. Strickland, A. P. Rebelo, R. Ulloa, R. Acosta,
M. Gonzalez.
2969
W Comprehensive genetic analysis of an Usher I
patient cohort.
K. M. Bujakowska, M. Consugar, E. Place,
M. F. Farkas, D. Taub, J. White, D. Navarro-Gomez, A.
Langsdorf, M. Sousa, C. Weigel DiFranco, S. Harper, X.
Gai, E. L. Berson, E. A. Pierce.
2970
T
SPG11
and
SPG15
are the most frequent
genotypes causing spastic paraplegia with thin
corpus callosum, white matter changes and mental
retardation in Italian patients.
C. Gellera, V. Pensato,
B. Castellotti, E. Sarto, D. DiBella, L. Nanetti, D.
Pareyson, E. Salsano, M. Eoli, C. Ciano, C. Mariotti,
F. Taroni.
2971
F 5q15 Deletions: Clinical and molecular
characterization of a new syndrome.
E. Pallesi-
Pocachard, J. Andrieux, A.-M. Bisgaard Pedersen, R.
Steensbjerre Møller, E. Buhler, A. Carabalona, P. H.
Kaad, E. Parrini, D. Héron, B. Keren, B. Benyahia, N.
Sobreira, V. Malan, L. Manouvrier-Hanu, T. Wang, R.
Guerrini, A. Represa, M. Kirchhoff, M. Holder-Espinasse,
C. Cardoso.
2972
W Evolution of magnetic resonance
imaging findings in a girl with megalencephalic
leukoencephalopathy with subcortical cysts.
D. L.
Renaud, N. Manolakos, G. M. Hobson.
2973
T De novo mutations in the autophagy gene
encoding
WDR45
(
WIPI4) cause static encephalopathy
of childhood with neurodegeneration in adulthood.
H. Saitsu, T. Nishimura, K. Muramatsu, H. Kodera, S.
Kumada, K. Sugai, E. Kasai-Yoshida, N. Sawaura, H.
Nishida, A. Hoshino, F. Ryujin, S. Yoshioka, Y. Kondo, Y.
Tsurusaki, M. Nakashima, N. Miyake, H. Arakawa, M. Kato,
N. Mizushima, N. Matsumoto.
2955
T Whole exome sequencing links with cerebro-
facio-thoracic syndrome.
Y. Bayram, E. Karaca, D.
Pehlivan, C. R. Beck, C. Gonzaga-Jauregui, T. Gambin, S.
N. Jhangiani, H. Aydin, W. Wiszniewski, A. H. Cebi, M. M.
Atik, D. Muzny, R. A. Gibbs, J. R. Lupski.
2956
F Stormorken syndrome: Mutation in
STIM1
as
a cause or a remarkable coincidence?
G. Morin, G.
Jedraszak, A. Rabbind singh, B. Roméo, E. Bourges-Petit,
H. Sevestre, D. Brémond-Gignac, H. Ouadid-Ahidouch, M.
Mathieu, J. Rochette.
2957
W
SOX10
in the development of the olfactory
ensheathing cells.
V. Pingault, W. Watanabe, S. Marcos,
V. Baral, A. Chaoui, M. Goossens, J. P. Hardelin, C. Dodé,
N. Bondurand.
2958
T
FGFR1
mutations cause Hartsfield synd ome,
the unique association of holoprosencephaly
and ectrodactyly.
C. Vilain, I. Migeotte, N. Lambert,
C. Perazzolo, D. de Silva, B. Dimitrov, C. Heinrichs,
S. Janssens, B. Kerr, G. Mortier, G. Van Vliet, P. Lepage,
G. Casimir, M. Abramowicz, N. Simonis, G. Smits.
2959
F Exome sequencing in Mendelian cleft lip and
palate families: Results of an international orofacial
clefting consortium.
T. Roscioli, M. Buckley, C. Carels,
T. Cox, E. Haan, D. Hanna, A. V. Hing, K. Khandelwal,
E. Kirk, A. Lidral, J. Murray, D. A. Nickerson, F. Reinier,
J. Smith, E. Thompson, H. van Bokhoven, H. Zhou.
2960
W Identification of a novel mutation Arg118Gly in
the
TWIST1
gene causing Saethre-Chotzen syndrome.
M. L. M. Castro, C. H. P. Grangeiro, N. R. Quaresemin,
C. M. Leprevost, J. A. Josahkian, L. A. F. Laureano,
W. A. R. Baratella, J. Huber, E. S. Ramos, W. A. Silva, Jr.,
L. Martelli, G. A. Molfetta.
2961
T Splice site mutation leads to ataxia and
retardation in a consanguineous family .
R. M. Burns,
W. Peng, J. Xu, J. Z. Li, M. Burmeister.
2962
F A novel gene for spinocerebellar ataxia linked to
chromosome 6 and involved in fatty acid metabolism.
E. Di Gregorio, B. Borroni, E. Giorgio, D. Lacerenza,
C. Mancini, A. Calcia, I. Mura, D. Coviello, N. Mitro,
M. Gaussen, N. lo Buono, A. Funaro, G. Vaula, I. Lagroua,
L. Orsi, A. Durr, C. Costanzi, A. Padovani, A. Brice,
L. Boccone, E. Hoxha, F. Tempia, D. Caruso, G. Stevanin,
A. Brusco.
2963
W Targeted exome sequencing with copy number
variant detection reveals
HSD17B4
-
deficiency in a
male with cerebellar ataxia and azoospermia.
D. S.
Lieber, S. G. Hershman, N. G. Slate, S. E. Calvo, K. B.
Sims, J. D. Schmahmann, V. K. Mootha.
2964
T Mutations of
COQ2
in familial and sporadic
multiple system atrophy.
J. Mitsui, T. Matsukawa, H.
Ishiura, Y. Fukuda, Y. Ichikawa, H. Date, B. Ahsan, Y.
Nakahara, Y. Momose, Y. Takahashi, J. Goto, Y. Yamamoto,
K. Shirahige, H. Takahashi, O. Onodera, M. Nishizawa,
T. Kondo, S. Murayama, A. Dürr, A. Brice, A. Filla, T.
Klockgether, U. Wüllner, G. Nicholson, S. Gilman, S. Tsuji,
JAMSAC, JGSCAD, JPDSGC, JaCALS, and NAMSA-SG.