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1322F Loss of the Prader-Willi syndrome candidate
gene Magel2 impairs leptin signaling in mice.
R. E.
Mercer, R. Wevrick, W. F. Colmers.
1323F Clinicopathological and genetical features of
autophagic vacuolar myopathies characterized by
autophagic vacuoles with sarcolemmal features.
K.
Sugie, H. Komaki, T. Kurashige, D. Kaneda, A. Kimura, M.
Matsumoto, S. Ueno, I. Nishino.
1324F Clinical findings and molecular analysis of the
GALT gene in Filipino patients with classical
galactosemia.
C. L. T. Silao, D. M. Canson, K. N.
Hernandez, S. C. Estrada.
1325F Observations on the molecular basis of
sucrase-isomaltase deficiency.
Z. Wu, S. Uhrich, C. R.
Scott.
1326F The heritability of metabolic profiles in preterm
twins.
K. K. Ryckman, S. L. Berberich, O. A.
Shchelochkov, S. Copeland, J. C. Murray.
1327F Guanidinoacetate methyltransferase deficiency
presenting as a late-onset refractory seizure disorder
and mental retardation in sibs.
A. Levtova, L. Carmant,
M. Lambert, V. Désilets.
1328F The clinical spectrum of pancreatitis in organic
acidemias.
H. Andersson, I. S. Fortgang, M. S. Petrescu,
T. C. Narumanchi, A. Cunningham.
1329F Identification of novel biochemical abnormalities
in organic acidemias through a GC-MS based
metabolomics approach.
H. Vernon, Y. Sandlers, R. I.
Kelley, D. Valle.
1330F Characterization of surfactant secretion in
alveolar type II cells cultured from PEX7 hypomorphic
mice: Does plasmalogen deficiency lead to surfactant
abnormalities?
X. He, W. Cui, S. Jiralerspong, I.
Mandeville, S. Steinberg, A. Moser, N. Braverman.
1331F Increased incidence of Zellweger syndrome in
French-Canadians of Saguenay-Lac-St-Jean due to a
founder mutation in
PEX6
.
S. Levesque, C. Morin, S.-P.
Guay, J. Villeneuve, P. Marquis, L. Bouchard, S. Steinberg,
K. Dewar, N. Braverman.
1332F Single nucleotide polymorphisms in the
promoter region of ADIPOQ are associated with
adiponectin level measured at first trimester in
pregnant women.
M.-F. Hivert, M. Lacroix, M. Doyon, M.-
C. Battista, P. Perron, D. Brisson, L. Bouchard.
1333F Significant association of ADRB2 Glu27Gln
polymorphism with triglyceride level in Tongans.
I.
Naka, R. Kimura, N. Nishida, T. Inaoka, Y. Matsumura, J.
Ohashi.
Friday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
The Exhibit Hall will close at 4:30 pm.
1334F Genetic polymorphism of -1297 T/C on
interleukin-18 may predispose gallstone patients to
cholecystectomy.
H. Yang, S. Shih, T. Chang, H. Wang
K. Hu, C. Chang, C. Chang, C. Hung, H. Chan, M. Lin,
Lee.
1335F A prediction model for gout using genetic
polymorphisms of ten loci associated with serum
levels of uric acid.
A. Taniguchi, W. Urano, E. Inoue, C
Sekita, Y. Koseki, N. Ichikawa, N. Kamatani, H. Yamana
1336F Genome wide expression profiling in the Smit
Lemli-Opitz syndrome.
R. Steiner, J.-B. Roullet, C.
Wassif, F. D. Porter, Q. Yang, S. Impey.
1337F Surface plasmon resonance - mass
spectrometry to identify novel binding partners in
intracellular vitamin B
12
metabolism.
M. Plesa, M. A.
Hancock, J. C. Deme, D. Watkins, D. S. Rosenblatt, J.
Coulton.
1338F A genome-wide association study identifies 3
genetic loci associated with human serum
metabolites.
J. Kettunen, T. Tukiainen, A. P. Sarin, A.
Ortega-Alonso, E. Tikkanen, L.-P. Lyytikäinen, A. J.
Kangas, P. Soininen, P. Würtz, K. Silander, D. M. Dick,
J. Rose, M. J. Savolainen, J. Viikari, M. Kähönen, T.
Lehtimäki, N. B. Freimer, M. I. McCarthy, A. Jula, J.
Eriksson, O. T. Raitakari, V. Salomaa, J. Kaprio, M.-R.
Järvelin, L. Peltonen, M. Perola, M. Ala-Korpela, A.
Palotie.
1339F Long-term outcome and intervention of urea
cycle disorders in Japan.
J. Kido, K. Nakamura, H.
Mitsubuchi, T. Ohura, M. Takayanagi, M. Matsuo, M.
Yoshino, Y. Shigematsu, T. Yorifuji, M. Kasahara, R.
Horikawa, F. Endo.
1340F Knockdown of upstream stimulatory factor 1
leads to a beneficial metabolic profile in mice.
P.-P.
Laurila, J. Soronen, E. Kaiharju, C. Ehnholm, V. Olkkone
M. Jauhiainen, L. Peltonen.
1341F Heterozygous mutation in the X chromosomal
NDUFA1 gene in an oligosymptomatic 5-year old girl
with complex I deficiency.
O. Bodamer, J. Mayr, T. B.
Haack, F. Zimmermann, H. Prokisch, C. Rauscher, J.
Koch, W. Sperl.
Ethical, Legal, Social and Policy
Issues in Genetics
1342F Circulating collections: Ethics and the
institutional and social locations of resources for
specimen-based human genome research.
J. Radin,
Brown.
1343F Freedom to directly access to genetic tests o
Internet: A part of the right to innovation?
E. Rial-
Sebbag, H. Howard, P. Borry, A. Cambon-Thomsen.