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1275F Variant Rett syndrome in a girl with a pericentric
X-chromosome inversion leading to overexpression of
the MECP2 gene in the absence of gene duplication.
F.
Lopes, A. Silva-Fernandes, S. Moura, S. Pereira, B. Costa,
B. Ylstra, J. Weiss, T. Temudo, T. Lourenço, J. Vieira, P.
Maciel.
1276F Next-generation genomic microarrays and
custom FISH probes for molecular cytogenetic
analysis designed by ab initio sequence analysis.
S. N.
Dorman, B. C. Shirley, N. G. Caminsky, E. J. Mucaki, W. A.
Khan, L. Guo, J. H. M. Knoll, P. K. Rogan.
1277F Place of CGH-array analysis in the investigation
of constitutional cytogenetic abnormalities: Example of
three phenotypically related cases.
H. Hannachi, S.
Mougou, M. Kammoun, I. Ben Abdallah, W. Fathallah, N.
Kahloul, N. Gaddour, D. H'mida, H. El Ghazel, D.
Sanlaville, A. Saad.
1278F A microdeletion in 3p24.2 including a portion of
the retinoic acid receptor beta gene in a boy with
autism spectrum disorder.
X. Li, K. Button, D. Witt.
1279F Design, validation and clinical routine
implementation of custom a-CGH in the diagnosis of
patients with psychomotor development delay and/or
mild-severe mental retardation.
J. Nevado, E. Vallespin,
M. Palomares, M. A. Mori, S. Garcia-Miñaur, F. Santos, F.
Garcia-Santiago, E. Mansilla, L. Fernandez, A. Delicado, P.
Lapunzina.
1280F Clinical utility of metaphase FISH and/or
chromosome studies following the identification of
terminal or subcentromeric deletions identified by
chromosomal microarray testing.
C. J. Packard, J. C.
Hodge, N. L. Hoppman-Chaney, E. C. Thorland.
1281F Identification of genomic copy number
abnormalities associated with childhood apraxia of
speech.
G. Raca, J. J. Laffin, G. M. Rice, K. J. Jakielski,
E. A. Strand, L. D. Shriberg.
1282F Paralleldetection of copy number variation and
loss of heterozygosity with CGH microarrays.
C. Shaw,
J. Geoghegan, X. Zhang, E. Rorem, T. Richmond, D.
Raterman, R. Selzer.
1283F Analysis of 24 cell lines of mosaicism by the
Affymetrix Genome-Wide Human SNP Array 6.0.
Z.
Tang, N. Gerry, D. Berlin, A. MacMillan, M. Wineburg, B.
Frederick, L. Toji, G. Toruner, C. Beiswanger.
1284F Chromosomal heterochromatic variations
involved in reproductive failure.
D. Mierla, V. Stoian.
1285F Genome-wide analysis of genomic stability in
human induced pluripotent stem cells.
D. S. Berlin, M.
Bucan, R. Allen, A. MacMillan, N. P. Gerry, Z. Tang, M. A.
Keller, C. Tarn, K. Fecenko-Tacka.
Friday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
The Exhibit Hall will close at 4:30 pm.
1286F Shorter telomeres on chromosome 1
demonstrated in 11 older individuals with mild
cognitive impairment and Down syndrome using lin
measurements in microns.
E. Jenkins, L. Ye, S. Krinsk
McHale, W. Zigman, N. Schupf, W. Silverman.
1287F Genomic imbalances in patients with syndro
ocular developmental anomalies.
A. Delahaye, P. Bito
S. Drunat, M. Gérard-Blanluet, N. Chassaing, A. Toutain
A. Verloes, F. Gatelais, M. Legendre, L. Faivre, S.
Passemard, A. Aboura, S. Kaltenbach, S. Quentin, A. C.
Tabet, S. Amselem, J. Elion, P. Gressens, E. Pipiras, B.
Benzacken.
1288F De novo intrachromosomal Xp22 deletion and
Xq28 duplication including HCCS and MECP2 in a
female with microphthalmia, glaucoma, cataracts, cl
palate, seizures and global developmental delay.
I. E
Amarillo, B. F. Crandall, P. N. Rao, F. Quintero-Rivera.
1289F Rapid screening of people exposed to ionizin
radiation for cytomolecular alteration de novo.
S.
Moosavi, S. Shabani, M. Tondar, F. Mojtahedi, Z.
Ghanbari, H. Dargahi, F. Heshmati.
Metabolic Disorders
1290F Phenylbutyrate therapy for pyruvate
dehydrogenase deficiency.
R. Ferriero, E. Lamantea,
Lee, M. Zeviani, N. Brunetti-Pierri.
1291F Novel mutations in the GCDH gene.
F. Ghase
O. Aryani, M. Houshmand.
1292F Comparison of expression profiles of children
born before and after maternal bariatric biliopancre
diversion surgery.
F. Guenard, P. Marceau, K. Cianflon
Y. Deshaies, J. G. Kral, M.-C. Vohl.
1293F Accuracy of diagnostic tests in Niemann-Pick
type C disease.
R. Hartung, H. Runz, M. Beck, E.
Mengel.
1294F Mutation screening of two genes involved in
intracellular vitamin B
12
metabolism genes by high
resolution melting analysis.
M. L. Illson, Q. Huang, L.
Dempsy Nunez, A. Brebner, B. M. Gilfix, D. Watkins, D.
Rosenblatt, C. T. Wittwer.
1295F Methylenetetrahydrofolate reductase and
methionine synthase reductase deficiency affect
behaviour and alter choline metabolism in cerebellu
and hippocampus of mice.
N. M. Jadavji, L. Deng, O.
Malysheva, M. A. Caudill, R. Rozen.
1296F Spatial and temporal characterization of singl
minded 1 (
SIM1
) enhancers.
M. J. Kim, C. Vaisse, N.
Ahituv.