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1036T Computer-assisted estimation of the prevalence
of dysmorphic features in the general population.
L.
Basel-Vanagaite, L. Karlinsky, L. Wolf, M. Shohat.
1037T A Simpson-Golabi-Behmel patient with severe
neonatal liver involvment.
B. Demeer, D. Djeddi, F.
Lacaille, G. Morin, G. Jedraszak, J. Micheli, R. Rhazlane,
S. Lanta, F. Amram, M.-P. Moizart, M. Mathieu.
Genetic Counseling and Clinical
Testing
1038T Genetic diagnosis of Duchenne and Becker
muscular dystrophy using next-generation sequencing
technology: Comprehensive mutational search in a
single platform.
B. Lim, J. Chae, K. Kim, S. Lee, J. Kim,
J. Seo.
1039T Dynamics of genetic polymorphisms linked to
hemophilia A gene (
F8
) in the Brazilian population.
J.
D. Massaro, C. E. V. Wiezel, C. T. Mendes-Junior, M. R.
Luizon, A. L. Simões.
1040T Molecular analysis by an individual diagnosed
with autosomal recessive polycystic kidney disease.
M. Nagel, S. Nagorka, M. Brzeska.
1041T Hemophilia A diagnose with
F8
Int18B
cl
I SNP
and DXS 1108 markers in Brazilian population.
F. A.
Saiki, J. D. Massaro, A. L. Simões.
1042T A comparative study about death anxiety with
familial amyloidotic polyneuropathy familiars
(caregivers).
P.Isabel. Santos.
1043T A comparison of enrichment techniques for
clinical next-generation sequencing of intellectual
disability, early infantile epilepsy and congenital brain
malformations.
S. Topper, V. Nelakuditi, M. A. Dempsey,
S. Das.
1044T A c.1372C
T mutation found in TSC2 gene in a
TSC-affected family revealed that it is less likely to
account for mental retardation.
T. Tsai, S. Lin, D. Chu.
1045T Ion Torrent as a potential platform for molecular
diagnosis.
X. Wang, H. Wang, D. Muzny, I. Newsham, Y.
Wu, C. Buhay, H. Dinh, R. Gibbs, R. Chen.
1046T Genetic counseling: An analysis of awareness,
opportunities and accessibility in India at the
undergraduate level.
A. Neogi.
1047T R143Q mutation of the POU1F1 gene,
underlying combined pituitary hormone deficiency.
A.
Aykut, S. Ozen, D. Goksen, H. Onay, O. Cogulu, S.
Darcan, F. Ozkinay.
Thursday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
1048T Glucose transporter type I deficiency syndro
epilepsy phenotypes and alternative therapies:
Implications for genetic testing, counseling, and
treatment from the world’s largest cohort.
A. W. Pon
K. Engelstad, B. Geary, A. Natarajan, H. Yang, D. C. De
Vivo.
1049T Developing a next-generation sequencing ge
panel for molecular diagnosis of genetic epilepsy.
F.
Xia, P. Stankiewicz, M. Vatta, C. M. Eng, Y. Yang.
1050T Parental attitudes toward the disclosure of
individual genotype results for children enrolled in a
gene discovery protocol.
J. C. Sapp, D. A. Dong, B. B
Biesecker, L. G. Biesecker.
1051T Fragile X AGG genotyping reclassifies risk for
expansion in intermediate and small premutation
carriers: Results of a multicenter study of 469 moth
child transmissions.
S. L. Nolin, E. Allen, A. Glicksman
S. L. Sherman, E. Berry-Kravis, F. Tassone, C. Yrigollen
Cronister, M. Jodah, N. Ersalesi, W. T. Brown, R. Shroff,
Sah, G. J. Latham, A. G. Hadd.
1052T Screening for LHON mutations in Brazilian
patients.
E. L. Sartorato, P. M. A. D. Miranda, M. S. A.
Fernandes, A. T. Maciel-Guerra.
1053T How do young adults with Leber congential
amaurosis perceive gene therapy?
M. P. Napier, J. E.
Sutherland, M. A. Day, R. Z. Hayeems, D. Chitayat, C.
Shuman, E. Héon.
1054T
Withdrawn
1055T Using next-generation sequencing as a clinic
diagnostic tool for autism.
T. Brandt, O. Jabado, S.
Yoon, V. Makarov, Z. Peralta, R. Kornreich, J. Buxbaum
Edelmann.
1056T Novel mutations in Iranian Rett syndrome
patients.
M. Dehghan Manshadi, S. Dadgar, O. Ariyani,
Karimzadeh, Sh. Salehpour, H. Tonkaboni, M.
Houshmand.
1057T Creating community dialogues: Exploring pub
opinions about genetics research in Newfoundland
Labrador.
E. Dicks, H. Etchegary, J. Green, D. Pullman,
Street, P. Parfrey.
1058T Validation of open-source colorectal cancer ri
assessment software compatible with the U.S.
Surgeon General's My Family Health Portrait tool.
W
G. Feero, F. M. Facio, E. Glogowski, H. Hampel, J.
Stopfer, A. Linn, D. Barton, L. G. Biesecker.
1059T ACTN3 R577X genotype and sport performan
in Roma/Gypsies.
D. Gabrikova, D. Hronska, S.
Macekova, J. Bernasovska, A. Sovicova, A. Bozikova.