Page 218 - ASHG 2013 Program Guide

ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
Therapy for Genetic Disorders
T Dynamics of HSPC subtypes in non-human
primates revealed by a decade-long clonal tracking
S. Kim, N. Kim, A. Presson, M. E. Metzger, G. M.
Crooks, D. An, R. E. Donahue, I. S. Y. Chen.
F Long term outcome and success of liver
transplantation in patients with progressive familial
intrahepatic cholestasis: Is there an association
between genotype and outcome?
S. M. Herbst,
J. Vermehren, M. Melter, U. Hehr.
T First U.S. orthotopic liver transplantation for
intractable acute intermittent porphyria.
A. Ludtke, M.
Balwani, L. U. Liu, H. Naik, M. Yasuda, A. Arvelakis, C. Yu,
S. S. Florman, R. J. Desnick.
F Creation of a new mouse model for the mRNA
splicing disease familial dysautonomia.
E. Morini,
P. Dietrich, I. Dragatsis, M. Salani, F. Urbina, S. A.
T Phosphatidylserine: A potential gene modifying
therapy for familial dysautonomia?
M. Salani, L.
Norcliffe-Kaufmann, J. Martinez, E. Morini, F. Axelrod, S.
F Inhibition of retinoic acid signaling rescues
inner-ear defects in a mouse model of CHARGE
J. M. Skidmore, E. A. Hurd, A. Saiakhova,
D. L. Swiderski, E. D. Sperry, P. S. Scacheri, Y. Raphael,
D. M. Martin.
T Myhre syndrome-causing
result in disorganization of extracellular matrix
that is corrected by losartan treatment.
P. Piccolo,
P. Mithbaokar, V. Sabatino, J. Tolmie, D. Melis, M. C.
Schiaffino, M. Filocamo, G. Andria, N. Brunetti-Pierri.
F Tumor-associated macrophages in
neurofib omatosis.
C. Prada, E. Jousma, T. Rizvi, J. Wu,
S. Dunn, N. Ratner.
T Oligotherapeutic strategies for the treatment of
Friedreich’s ataxia.
F. Ozsolak, D. Jun Li, D. Parekh, D.
Knowlton, M. Wysk, R. Subramanian, J. Barsoum.
F Positive effects of short course androgen
therapy on the neurodevelopmental outcome in
boys with 47, XXY syndrome at 9 years of age.
C. A.
Samango-Sprouse, E. Stapleton, C. Sprouse, T. Sadeghin,
F. L. Mitchell, A. L. Gropman.
T Prenatal therapy in developmental disorders:
Drug targeting via intra-amniotic injection to treat
X-linked hypohidrotic ectodermal dysplasia.
K. Hermes,
P. Schneider, P. Kreig, A. Dang, K. Huttner, H. Schneider.
F A novel, selective and orally-available
glucosylceramide synthase inhibitor for substrate
reduction therapy of Fabry disease.
J. Marshall, K. Ashe,
E. Budman, D. Bangari, J. Nietupski, R. J. Desnick, R. K.
Scheule, J. P. Leonard, S. H. Cheng.
F The yield of clinical genetic testing for isolated
left ventricular noncompaction.
A. R. Shikany, A. S.
Parrott, S. Ware, E. M. Miller.
W Causative analysis of markers related to PR
interval properties and atrial fibrillation after ca diac
M. I. Sigurdsson, J. Muehlschlegel, A. Fox,
M. Heydarpour, P. Lichtner, T. Meitinger, C. Collard,
S. Shernan, S. C. Body.
T Clinical and mutational spectrum in patients
with cardiac glycogenosis related to mutations
in the
J. Thevenon, G. Laurent, P.
Charon, P. Laforêt, A. Millaire, D. Klug, L. Gouya, C.
A. Maurage, S. Kacet, J. C. Eicher, X. Jeunemaitre, M.
Desnos, E. Bieth, P. Bouvagnet, D. Duboc, L. Martin,
P. Réant, F. Picard, C. Bonithon-Kopp, E. Gautier,
C. Binquet, C. Thauvin-Robinet, J. E. Wolf, L. Faivre,
P. Richard.
F Genetic profiling supports the causal ole
of type 2 diabetes, and fasting insulin and glucose
in cardiovascular diseases.
E. Tikkanen, M. Pirinen,
A. S. Havulinna, V. Salomaa, S. Ripatti.
W Left ventricular non-compaction, Ebstein’s
anomaly and autosomal dominant polycystic kidney
disease: A novel association and review of the
vascular features of ADPKD.
L. Zahavich, A. Dipchand,
S. Bowdin.
T Identification of copy number variations in
patients with isolated conotruncal heart defects:
A family trio study.
J. Arteaga-Vazquez, A. Aguayo,
Y. Svyryd, G. Vargas, J. E. Calderon, C. Zamora,
O. Mutchinick.
F Identification of global methylation markers
for myocardial infarction in males.
J. M. Devaney, B. T.
Harmon, E. P. Hoffman, S. E. Epstein.
W Evaluation of the familiality of cardiovascular
diseases among patients in a large healthcare system.
S. Knight, B. Horne.
T Genome-wide linkage and positional association
study of blood lipid phenotypes: The GenSalt study.
C. Li, J. E. Hixson, L. C. Shimmin, D. C. Rao, D. Gu, J. He,
T. N. Kelly.
F Genome-wide linkage and regional association
study of blood pressure response to cold pressor test
in Chinese: The GenSalt study.
X. Yang, T. N. Kelly, X.
Wu, J. E. Hixson, J. Chen, J. Cao, J. Li, L. C. Shimmin, J.
Huang, D. C. Rao, J. He, D. Gu.
W Whole genome expression profile of calcifie
bicuspid and tricuspid aortic valves.
S. Guauque-Olarte,
N. Gaudreault, P. Pibarot, P. Mathieu, Y. Bossé.
T Peripheral blood microRNA profiles a e
associated with cardiometabolic disease.
L. C. Kwee,
W. E. Kraus, U. Hidefumi, H. Toyoshiba, T. Andou, E.
R. Hauser, S. G. Gregory, J. Bain, M. Muehlbauer, R.
Urquhart, C. B. Newgard, S. H. Shah.