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1049F Results and experiences involving microarray-
based comparative genomic hybridization (aCGH) in an
inner-city setting.
E. Pereira, A. Singh, J. Samanich, P.
Levy, R. Marion, B. Morrow, K. H. Ramesh, L. Cannizzaro,
Q. Pan, R. Naeem.
1050F An Iranian cohort suspected to MELASE-
MERRF with a known muatation (A5814) in tRNA Cys
gene.
H. Aryan, O. Aryani, N. Farzan, M. Houshmand.
1051F Automatic annotation of mitochondrial variants
from high throughput next-generation sequencing in a
clinical molecular diagnostic laboratory.
D. C.-Y. Chen,
V. W. Zhang, J. Wang, L.-J. Wong.
1052F Comprehensive molecular analyses of
mitochondrial genome by next-generation sequencing.
H. Cui, V. W. Zhang, L. J. Wang.
1053F Identification of three novel mutations within the
FVIII gene in hemophilia A.
N. J. Faridi, N. Husain, I.
Siddiqi.
1054F Optimizing genetic counseling services for
prenatal patients in a subspecialty neurogenetics
clinic: Four years of experience with this patient
population.
C. L. Goldsmith, M. Cloutier, K. M. Boycott.
1055F Mitochondrial dysfunction in Mexican patients
with Parkinson's disease.
E. Martinez, G. Dorazco, E.
Lara, Y. Serrano.
1056F Study of Charcot-Marie-Tooth in Iran: Novel
types?
E. Mohammadi Pargoo, O. Aryani, H. Tonekaboni,
P. Yaghmaei, M. Houshmand.
1057F A revised diagnostic algorithm for analysis of
Zellweger spectrum disorders peroxisome assembly
defects.
G. S. Charames, B. A. Karczeski, G. R. Cutting,
S. J. Steinberg.
1058F IL28B SNP rs12979860 genotyping: Allele
frequencies in a diagnostic testing population.
M.
Mikula, A. Buller Burckle, W. Sun, C. Strom.
1059F Family members of patients with hereditary
hemorrhagic telangiectasia: HHT Center Paris
experience in 343 relatives from 116 families with
genotyping.
J. Roume-Baudrier, M. Eyris, I. Bourgault-
Villada, J. H. Blondel, S. Blivet, D. Cobarzan, J. P. Pelage,
A. Ozanne, C. Fagnou, G. Lesur, L. Crivat, F. Coulet, P.
Lasjaunias, B. Raffestin, L. Gouya, T. Chinet, P. Lacombe,
F. Soubrier.
1060F Predictive testing for adult-onset neuromuscular
diseases.
Y. Sato, Y. Ikegami, N. Minami, N. Okamoto, M.
Mori, M. Murata, Y. Goto.
1061F The combination of
ααα
anti 3.7 triplication and
β
-thalassemia in an Iranian family.
F. Moosavi, Z. Kaini
Moghaddam, A. Valaei, S. Zeinali, M. Karimipoor.
Friday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
The Exhibit Hall will close at 4:30 pm.
1062F The merry-go-round of discovery: Diagnosis
Fragile X syndrome and Duchenne muscular
dystrohpy.
A. D. Archibald, B. J. McClaren, S. H. Wong
M. N. Cotter, A. Kornberg, A. M. Jaques, S. Wake, J.
Cohen, S. A. Melcalfe.
1063F The role of social comparisons in quality of lif
following a prostate cancer diagnosis.
S. S. Kalia, A.
Madeo, D. Roter, L. A. H. Erby, T. O. Blank.
1064F Development of preventive strategy for health
adults with family history of type 2 diabetes:
Challenges in Japan.
M. Nishigaki, A. Ota, K. Kobayas
T. Shibayama, E. Sato, Y. Tokunaga, S. Kosaka, N. Seki
M. Yokoyama, T. Yokomura, Y. Fujikawa, T. Shimomura,
Ota, C. Matsuzaki, S. Taguchi, J. Nishida, K. Kazuma.
1065F Characterizing the role and skills of the
research genetic counselor over time.
A. Rupchock,
Zierhut, E. Heise, E. Burkett, A. Dressen, S. Hahn.
1066F Lack of lung function prediction value for
genetically determined ancestry in French Canadian
population.
J. Berube, M. Lamontagne, M. Laviolette,
Bossé, Merck-Laval-UBC-Groningen Lung eQTL
Consortium.
1067F Gene-gene and gene-environment interaction
in risk prediction.
H. Aschard, J. Chen, P. Kraft.
1068F X-linked retinitis pigmentosa in a three-
generation family of females and a female-sporadic
case accounted for by single heterozygosity for RP
mutations.
J. Kaplan, N. Delphin, S. Gobin, J.-P.
Bonnefont, J.-L. Dufier, O. Roche, A. Munnich, J.-M.
Rozet.
1069F Stargardt disease: Clinical utility and sensitivi
of a next-generation sequencing panel.
S. M. Sperbe
B. J. Williams, D. Blain, K. Goetz, V. Ndifor, M. Reeves,
Vitez, X. Wang, S. J. Tumminia, N. Smaoui.
Molecular Basis of Mendelian
Disorders
1070F Exome sequencing in phenotypic
facioscapulohumeral muscular dystrophy (FSHD2).
A
Leidenroth, H. S. Sorte, P. Lunt, R. Lyle, J. E. Hewitt.
1071F Candidate gene and whole exome sequencin
to identify novel muscular dystrophy mutations.
K. K
McDonald, E. E. Davis, J. Stajich, J. Rimmler, B. Rusna
K. Crooks, N. Katsanis, A. E. Ashley-Koch, M. A. Hause
1072F Genetic causes of primary lymphedema.
A.
Mendola, A. Ghalamkarpour, C. Debauche, N. Van
Regemorter, Y. Sznajer, D. Thomas, N. Revencu, Y.
Gillerot, K. Devriendt, E. Legius, G. Pierquin, R.
Hennekam, G. A. Diaz, J. B. Mulliken, L. M. Boon, M.
Vikkula, Lymphedema Research Group.