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1280T Subtelomeric deletion of chromosome 10p15:
Clinical findings and molecular cytogenetic
C. DeScipio, L. K. Conlin, J. Rosenfeld,
J. Tepperberg, A. Patel, M. T. McDonald, S. Aradhya, D.
Ho, J. Goldstein, M. McGuire, L. Medne, R. Rupps, A.
Serrano-Russi, E. C. Thorland, A. Tsai, Y. Hilhorst-Hofstee,
H. Van Esch, D. Clark, H. Riethman, N. B. Spinner, I. D.
1281T Cytogenetic analysis of an additional ten cells
does not improve the detection of sex chromosome
J. T. Mascarello, M. Thangavelu.
1282T 21,5 Mb mosaic pure inverted duplication of
chromosome 1q42.13qter.
M. L. M. Morris, C. N.
Medina, E. L. Freitas, C. Rosenberg, S. F. Oliveira, I.
Ferrari, J. F. Mazzeu.
1283T 45,X (40%); 46,X der X (ter rea) (60%)
mosaicism: Case report.
M. Pérez Sánchez, A. Gonzalez
Ramírez, A. Enriquez de Luna, A. Mora Guijosa.
1284T Elucidation of inheritance and pathogenicity of
CNVs: An approach to a better understanding and
clinical utility of SNP arrays.
S. Schwartz, C. M. Smith,
R. D. Burnside, I. Gadi, V. Jaswaney, E. Keitges, R.
Pasion, V. R. Potluri, H. Risheg, J. Smith, J. H.
Tepperberg, B. Williford, P. R. Papenhausen.
1285T A new microdeletion syndrome of 5q31.3
characterized by severe developmental delays,
distinctive facial features, and delayed myelination.
Shimojima, B. Isidor, C. Le Caignec, A. Kondo, S. Sakata,
K. Ohno, T. Yamamoto.
1286T How to recognize a recombinant pericentric
inversion at array CGH.
R. F. Suijkerbuijk, L. K. Leegte, T.
Dijkhuizen, B. Sikkema-Raddatz, J. B. G. M. Verheij, R. J.
Sinke, C. M. A. van Ravenswaaij-Arts.
1287T Confirmation testing for CNVs detected by
whole genome microarrays: Necessary or obsolete.
Tepperberg, E. Keitges, H. Risheg, J. Smith, V. R. Potluri,
R. Pasion, B. Rush, R. D. Burnside, J. Jaswaney, I. K.
Gadi, R. Royster, S. Moore, J. Kesler, S. Griffin, S.
Schwartz, P. R. Papenhausen.
Metabolic Disorders
1288T Study on correlation between severe
preeclampsia and abnormal expression of long-chain
fatty acid oxidative enzyme.
X. L. Sun, Z. Yang, J. L.
1289T Study on the expression of LCHAD in
trophoblast cells stimulated with different chain length
fatty acids.
J. L. Wang, Z. Yang, X. L. Sun.
Thursday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
1290T Study on the gene and protein expression of
p38MAPK and COX-2 in trophoblast cells stimulated
by different chain length fatty acids.
Z. Yang, X. L. Su
J. L. Wang.
1291T Biochemical and molecular characterization o
the W1327X frequent mutation in Tunisian families w
glycogen storage disease type III.
A. Mili, A. Amara, I.
Ben Charfeddine, O. Mamaï, L. Adala, A. Ayadi, A. Saa
K. Limem, M. Gribaa.
1292T Association of adiponectin and leptin gene
polymorphisms with hypertension in type 2 diabetic
O. Khabour, S. Wehaibi, S. Al-Azzam, K.
1293T Deficiency in Mthfr or low dietary choline ma
lead to adverse reproductive outcomes by modulati
ApoAI and inflammatory mediators PPAR-alpha, IFN
gamma or IL-10.
L. G. Mikael, J. Pancer, Q. Wu, R.
1294T Large-scale replication using Metabochip arr
identifies additional genetic loci influencing glycaem
R. A. Scott, V. Lagou, E. Wheeler, R. Welch, R.
Mägi, J. Luan, T. M. Teslovich, C. Langenberg, I.
Prokopenko, I. Barroso on behalf of MAGIC Investigato
1295T Gene and pathway-based analysis of 61 gene
variants in the nicotinic acetylcholine receptor gene
and insulin resistance in American Indians.
J. Yang,
A. Cole, K. Haack, B. V. Howard, L. G. Best, R. B.
Devereux, E. T. Lee, J. Zhao.
1296T MPS Brazil Network International Program:
Helping to identify MPS patients around the world.
Giugliani, K. Jesuino, A. Brites, M. Burin, S. Leistner-
Segal, U. Matte, M. Wilke, A. Federhen, I. V. Schwartz,
MPS Brazil Network Members.
1297T Simple and rapid testing for citrin deficiency.
Kikuchi, O. Sakamoto, T. Ohura, Y. Matsubara, T. Sahek
K. Kobayashi, S. Kure.
1298T Molecular genetics of glycogen storage
J. Wang, G. L. Wang, F. Y. Li, M. L. Landsver
W. Zhang, E. S. Schmitt, L. C. Wong.
1299T Phenotype to genotype corallation in a mild
form of isovaleric acidemia with novel G391V in thre
patients from a consangineous Saudi family.
A. I. Al-
Aqeel, D. Colak, B. Al-Younes, A. Al-Bakheet, S. Tulba,
Al-Mutairi, M. Al-Amoudi, A. Al-Odaib, N. Kaya.
1300T Meta-analyses of genetic association with bo
mass index in over 92,000 individuals using a gene-
centric genotyping array.
Y. Guo, M. Lanktree, K. Tayl
G. Papanicolaou, N. Timpson, K. North, H. Hakonarson,
Lange, B. Keating on behalf of IBC-BMI Consortium.
1301T Genotype-phenotype correlations in Pompe
A. Herzog, R. Hartung, E. Mengel, P. Hermann
H. Runz, S. Gökce, J. Pohlenz, M. Beck.