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1388W Immune and fibrosis pathway genes are
important in anti-SSA/Ro exposed neonates with
congenital heart block and/or cardiomyopathy.
R. M.
Clancy, P. S. Ramos, M. C. Marion, J. P. Buyon, C. D.
Langefeld.
1389W Phenotype-specific adverse effects of
XPD
mutations on human prenatal development implicate
transcription factor IIH in regulation of cellular
metabolism in placenta.
R. Moslehi, A. Kumar, J. L. Mills,
X. Ambroggio, C. Signore, A. Dzutsev.
1390W The fetal RHD genotyping and gender
determination from cell-free fetal DNA circulating in
maternal blood.
A. Stan, C. Dragomir, L. Savu, E.
Severin.
1391W Non-invasive prenatal detection of a novel
12p12.1-p11.22 microdeletion in a fetus by next-
generation sequencing of maternal plasma DNA.
D.
Peters, T. Chu, S. Yatsenko, N. Hendrix, W. Allen Hogge,
U. Surti, K. Bunce, M. Dunkel, P. Shaw, A. Rajkovic.
1392W Runs of homozygosity analysis from GWAS
data for preterm birth.
A. Uzun, B. Feenstra, M. L.
Marazita, M. Melby, J. C. Murray, J. Padbury.
1393W Novel loci associated with birth weight provide
biological links between intrauterine growth, postnatal
growth and metabolic traits.
H. Yaghootkar, M.
Horikoshi, D. O. Mook-Kanamori, U. Sovio, N. J. Timpson,
M. Kaakinen, D. J. Berry, J. P. Bradfield, D. L. Cousmi, J.
J. Hottenga, M. R. Jarvelin, M. Kerkhof, M. Kirin, E.
Kreiner-Møller, V. Lagou, H. R. Taal, E. Thiering, N. M.
Warrington, J. H. Zhao, S. van Wingerden, T. M. Frayling,
M. I. McCarthy, R. M. Freathy, I. Prokopenko, EGG
Consortium Investigators.
1394W Noninvasive prenatal diagnosis of multiple fetal
aneuploidies using massively parallel sequencing.
A. J.
Sehnert, D. W. Bianchi, R. P. Rava.
1395W Ancestral origins of African American women in
the Healthy Pregnancy, Healthy Baby cohort.
M. L.
Miranda, M. E. Garrett, K. S. Quinn, G. K. Swamy, A. E.
Ashley-Koch.
1396W Differential impact of mtDNA mutations on the
mtDNA copy number during human oogenesis and
embryofetal development.
J. Steffann, S. Monnot, D. C.
Samuels, N. Gigarel, P. Vachin, L. Hesters, P. Burlet, Y.
Ville, M. Rio, A. Benachi, R. Frydman, A.-S. Lebre, A.
Munnich, A. Rotig, N. Frydman, J.-P. Bonnefont.
1397W Novel
NEB
mutation in an Ashkenazi Jewish
infant with severe congenital nemaline myopathy.
A.
Ludtke, R. Kornreich, T. Winder, L. Mehta.
1398W Prenatal diagnosis of
β
-thalassemia using
polymorphic marker revealed DNA recombination 5' to
β
-globin gene.
Z. Kaini Moghaddam, M. Karimipour, A.
Amiriyan, M. Taghavi, A. Sanjari, M. Chobini, S. Zeinali.
Wednesday Poster Authors are reminded to remove posters from the boards at 6:30 pm.
1399W Preimplantation genetic diagnosis based
detection of uniparental disomy on embryos
undergoing IVF.
G. Ozgon, A. Fejzullahu, K. Senvardar,
Biricik, F. Fiorentino.
1400W Pre-implantation genetic diagnosis offers a f
chance of having unaffected offspring for
mitochondrial DNA disorders.
H. J. M. Smeets, D. M.
I. Hellebrekers, R. Wolfe, A. T. M. Hendrickx, J. P. M.
Geraedts, P. F. Chinnery, C. E. De Die, I. F. M. de Coo.
1401W Monosomy 18p presenting prenatally as mild
ventriculomegaly: Case report and review of the
literature.
K. Bajaj, M. Rosner, T. Goldwaser, J. Gebb,
Dar, S. Klugman.
1402W Prenatal screening of SMN1 deletion or
duplication showed pregnancies in the high-risk
women had a higher abnormal copy numbers of SM
alleles than that in the general pregnancies.
Y. Chen,
M. J. Liu, H. B. Li, J. Mao, H. Li.
1403W Early delivery of infants for treatment of
retinoblastoma diagnosed by prenatal
RB1
mutation
identification.
H. Dimaras, E. Heon, J. Sutherland, M.
Day, V. Khetan, J. Gardniner, H. S. L. Chan, B. L. Gallie.
1404W Detection of aneuploidies from microdissect
amniotic cells by quantitative fluorescent-polymeras
chain reaction.
R. Drouin, J. Lamoureux, A. Emad, E.
BenDavid, K. Chun, C. Bouffard.
1405W Clinical study of chorionic villous sampling f
10 years.
K. Lee, S. Kim, S. Shim, J. Baek, D. Cha.
1406W Distribution of fetal skeletal dysplasias in a
tertiary care centre: Genetic, pathologic, and
radiological findings in 91 cases.
U. Mohan, S. Keatin
D. Chitayat, A. Toi, K. Chong, G. Tomlinson, P. Glanc.
1407W SNP array analysis in prenatal diagnosis: Wh
do pregnant couples want to know?
G. Oudesluijs, S
R. Riedijk, M. I. Srebniak, A. M. Joosten, L. C. P.
Govaerts, K. E. M. Diderich, M. Boter, D. Van Opstal, A.
Tibben, R.-J. H. Galjaard.
1408W Non-invasive prenatal diagnosis of multiple
trisomic chromosomes in a triploid fetus using a no
single nucleotide polymorphism-based bioinformati
approach.
M. Rabinowitz, G. Gemelos, M. Banjevic, J.
Baner, B. Levy, M. Hill.
1409W A novel method to detect fetal trisomy in
pregnant women using a selective analysis of cell-fr
DNA in maternal blood.
K. Song, A. Sparks, C. Strubl
E. Wang, W. Barrett, R. Stokowski, C. McBride, J. Zahn
D. Hollemon, K. Lee, N. Shen, J. Sandler, J. Doshi, M.
Sun, J. Garrison, P. Pattee, J. Stuelpnagel, A. Tomita-
Mitchell, M. Mitchell, A. Oliphant.
1410W Impact of prenatal diagnosis on livebirth
prevalence of infants with Down syndrome.
C. Stoll,
Alembik, B. Dott, M. P. Roth.