Page 297 - 30917_ASHG_Complete

This is a SEO version of 30917_ASHG_Complete. Click here to view full version

« Previous Page Table of Contents Next Page »
1094F Cluster headache: Exome capture of the elusive
causal variants.
L. Southgate, S. Scollen, M. A. Simpson,
R. McEwen, B. Zhang, W. He, M. E. Weale, T. Schlitt, L.
Xi, C. L. Hyde, B. Dougherty, J. C. Stephens, M. Leone, C.
Sjöstrand, M. B. Russell, S. L. John, R. C. Trembath.
1095F Comparison of functional prediction methods
for nonsynonymous SNPs in exome sequencing-based
study of Mendelian diseases.
P. Wei, X. Jian, E.
Boerwinkle, X. Liu.
1096F The complex function of FMR2P and its
paralogs: Insights into the molecular pathology of
FRAXE intellectual disability.
B. Bardoni, M. Bensaid, D.
Douguet, J. Gecz, M. Melko.
1097F Modeling mental retardation in Cornelia de
Lange syndrome with
Drosophila melanogaster
.
D. Xu,
J. Li, W. Chen, A. Bell, N. Ferrick, T. Jongens, I. Krantz.
1098F Identification of novel mutations in xanthine
dehydrogenase gene in an Azorean family affected
with hypouricemia.
I. Foroni, A. R. Couto, J. Bruges-
Armas.
1099F Mutation analysis in OTCD patients with
emphasis on detection of large deletions.
G.
Storkanova, H. Vlaskova, L. Stolnaya, H. Treslova, V.
Stranecky, M. Hrebicek, R. Mihalova, L. Dvorakova.
1100F Gene expression profile in autosomal recessive
cutis laxa, type 2.
D. Z. Scherrer, C. V. Maurer-Morelli, J.
F. Vasconcellos, C. S. Rocha, A. H. B. Matos, C. E.
Steiner.
1101F Apoptosome independent caspase 9 activation
underlies microphthalmia with linear skin defects
(MLS) syndrome.
A. Indrieri, I. Conte, G. Chesi, D.
Ghezzi, J. Quartararo, I. Ferrero, R. Tate, P. Goffrini, M.
Zeviani, P. Bovolenta, B. Franco.
1102F Successful strategy for rapid molecular
diagnosis in complex I deficiency with custom target
capture associated to next-generation sequencing.
A.
S. Lebre, M. Jambou, M. Rio, P. De Lonlay, N. Boddaert,
V. Procaccio, J. P. Bonnefont, A. Munnich, A. Rötig, Z.
Assouline.
1103F Exome sequencing for unraveling the molecular
basis of complex I deficiency.
H. Prokisch, T. Haack, K.
Danhauser, B. Haberberger, P. Freisinger, S. Eck, M.
Zeviani, T. M. Strom, T. Meitinger.
1104F Defective NDUFA9 as a novel cause of
neonatally fatal complex I disease.
B. J. C. van den
Bosch, M. Gerards, W. Sluiter, A. P. A. Stegmann, E. L. C.
Jongen, D. M. E. I. Hellebrekers, E. H. Lambrichs, H.
Prokisch, K. Danhauser, K. Schoonderwoerd, I. F. M. de
Coo, H. J. M. Smeets.
Friday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
The Exhibit Hall will close at 4:30 pm.
1105F Zebrafish model of poikiloderma with
neutropenia syndrome: Towards the function of the
causative
C16orf57
gene.
E. A. Colombo, S. Carra, E.
Bresciani, L. Volpi, F. Cotelli, L. Larizza.
1106F Selenoprotein N deficiency in mice is associa
with lung emphysema.
B. Moghadaszadeh, B. E. Ride
M. W. Lawlor, C. A. Owen, A. H. Beggs.
1107F Update on the roles and functions of OPA1 in
mitochondria: A never ending story?
P. Amati-Bonne
V. Procaccio, G. Lenaers, C. Hamel, V. Carelli, A.
Martinuzzi, B. Wissinger, D. Milea, M. Ferré, A. Chevrolli
V. Desquiret-Dumas, N. Gueguen, P. Reynier, D. Bonne
1108F Identification and functional analysis of SOX1
missense mutations in different types of Waardenbu
syndrome.
A. Chaoui, Y. Watanabe, R. Touraine, V. Bar
M. Goossens, V. Pingault, N. Bondurand.
1109F Characteristics of hepatic proteome
expressions in Wilson disease.
B. H. Lee, J. M. Kim,
H. Heo, J. Kim, J. H. Kim, G. H. Kim, J. H. Choi, H. W.
Yoo.
1110F HRAS mutants identified in Costello syndrom
patients have the ability to induce cellular senescen
Possible association with the pathogenesis of Coste
syndrome.
T. Niihori, Y. Aoki, N. Okamoto, K. Kurosaw
H. Ohashi, S. Mizuno, H. Kawame, J. Inazawa, T. Ohura
H. Arai, S. Nabatame, K. Kikuchi, Y. Kuroki, M. Miura, T.
Tanaka, A. Ohtake, I. Omori, K. Ihrara, H. Mabe, K.
Watanabe, S. Niijima, E. Okano, H. Numabe, Y.
Matsubara.
1111F BMP2-Smad-Runx2 overexpression provides
evidence for the involvement of a pro-osteogenic
signaling pathway in pseudoxanthoma elasticum.
O.
Vanakker, M. Hosen, P. Coucke, O. Le Saux, A. De Pae
1112F Cohesin complex regulator ESCO2 and
replisome progression complex Timeless and TIPIN
constitute a complex that links establishment of sist
chromatid cohesion and the replication stress
checkpoint.
H. Vega, M. Gordillo, N. Sakai, H. S. Rho,
Boeke, H. Zhu, K. Inui, K. Ozono, E. W. Jabs.
1113F Severe myopathy due to cofilin-2 deficiency i
knockout mouse model.
P. B. Agrawal, T. Savic, Z.
Chen, M. Joshi, A. H. Beggs.
1114F Anoctamin 5 skeletal muscle subcellular
localization is preserved in a LGMD2L patient carryi
a splicing mutation.
V. Bolduc, T. C. Conte, R. Larivièr
K. M. Boycott, H. Inoue, M. Itakura, Y. Robitaille, N.
Leblanc, E. O'Ferrall, B. Brais.
1115F A molecular genetic approach to the diagnosi
of limb-girdle muscular dystrophies.
D. Monies, S.
Majid, M. Al Muhaizea, H. Al Hindi, I. Al Homoud, A. Al
Azami, D. Jaroudi, B. Baz, E. Naim, S. Al Haibey, B. F.
Meyer, S. Bohlega.