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979F Mutations in the WNT10A gene are the most
frequent cause of isolated hypodontia.
M. H. van den
Boogaard, M. Créton, A. Y. Bronkhorst, A. H. van der
Hout, M. Cune, J. K. Ploos van Amstel.
980F Haplotypes of the 3’untranslated region of the
HLA-G gene are associated with TD1.
R. de
Albuquerque, C. Leal, E. Castelli, N. Lucena-Silva, D.
Rassi, C. Mendes-Junior, E. Donadi.
981F SNPs located in regulatory regions of TPM1 and
TPM2 affect gene expression and are associated with
clubfoot.
K. S. Weymouth, S. H. Blanton, S. Richards, M.
J. Bamshad, A. E. Beck, A. Savill, M. B. Dobbs, C. A.
Gurnett, J. T. Hecht.
982F Protein biomarker development in Niemann-Pick
disease, type C.
S. M. Cologna, X.-S. Jiang, P. S.
Backlund, N. M. Yanjanin, C. A. Wassif, A. L. Yergey, F. D.
Porter.
983F Classification of severity of cleft lip and palate in
patients attending the genetic consultation in
Operation Smile Colombia.
J. Martinez, A. Venegas, I.
Briceno.
984F MOMO syndrome: broadening the clinical
spectrum and delineating natural history.
M. L. M.
Castro, J. G. C. Meira, L. R. Martelli, M. J. Rodovalho-
Doriqui, V. E. F. Ferraz, C. H. Grangeiro, W. A. R. Baratela,
C. G. Picanço, R. F. N. Bareiro, J. B. Volpon, A. C. Santos,
M. H. N. Barbosa, D. P. Paixão, R. T. Akamine, A. X.
Acosta, D. G. Melo, M. P. Foss, J. M. Pina-Neto.
985F Past and present investigations in a family with
Christianson syndrome and SLC9A6 gene defect.
S. G.
M. Frints, C. E. van Roozendaal, V. M. Kalscheuer, W. O.
Renier, D. Tserpelis, E. E. Smeets, A. P. Stegmann, R.
Blok, I. P. Krapels, C. T. R. M. Schrander-Stumpel, H. H.
Ropers, C. E. M. de Die-Smulders.
986F A patient with Allan-Herndon-Dudley syndrome
due to a complete deletion of exon 1 of the
MCT8
(
SLC16A2
) gene.
B. García de Teresa, A. González-del
Angel, M. L. Ruíz Reyes, R. Calzada Leon, B. Perez
Enriquez, M. A. Alcántara Ortigoza.
987F MEHMO syndrome: Report of a male patient.
D.
Gul, S. Vurucu, R. Akin.
988F A contiguous 6.6 Mb region of homozygosity on
chromosome 10 spanning the bands p15.1-p14 is
associated with unusual obesity, dysmorphic features,
and mild intellectual disability.
P. P. Koty, J. N. Hellwege,
T. Jewett, M. Mortenson, G. A. Hawkins, D. W. Bowden,
N. D. Palmer.
989F Outcomes of clinical genetic evaluation of 186
patients referred for intellectual disability or global
developmental delays of unknown cause.
J. Moeschler,
M. McClain, L. Burke, M. B. Dinulos, R. Smith, W. Smith,
P. Miller.
Friday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
The Exhibit Hall will close at 4:30 pm.
990F Extremely high prevalence of primary
microcephaly in Bushehrian population (a southern
province of Iran): Novel STIL and ASPM mutations.
Papari, M. Bastami, M. Hoseini, S. S. Abedini, I. Bahma
L. Nori-vahid, F. Behjati, K. Kahrizi, H. Najmabadi.
991F Searching for copy number changes in
nonsyndromic X-linked intellectual disability.
E. G.
Utine, P. O. Kiper, Y. Alanay, G. Haliloglu, D. Aktas, K.
Boduroglu, E. Tuncbilek, M. Alikas¸ ifoglu.
992F 47 XX iso 18p syndrome.
A. Venegas, I. Briceno.
993F The first case of Sjögren-Larsson syndrome wi
a mutation in ALDH3A2 in Korea.
K. Y. Koo, J. Y. Yan
C. H. Lee, J. S. Lee.
994F Genetic heterogeneity of Mabry syndrome.
M.
Thompson, T. Rosioli, M. N. Nezarati, E. Sweeney, P.
Meinecke, D. Horn, P. M. Krawitz, R. Londono-Mendoz
H. van Bokhoven, D. Andrade, A. Munnich, H. B. Brunn
D. E. Cole.
995F Effect of NSD1 mutations on the DNA methylo
in patients with Sotos syndrome.
S. Choufani, J. Hail
Y. A. Chen, D. Grafodatskaya, R. Mendoza, S. Bowdin,
Reardon, C. Cytrynbaum, R. Weksberg.
996F 46,XX male associated with a de novo
duplication of the SOX3 gene.
R. Babul-Hirji, D.
Wherrett, D. Bagli, D. Chitayat.
997F XY disorder of sexual development associated
with microdeletion of chromosome 9p33.3 including
the
NR5A1
(SF-1) gene.
L. M. Blanchard, K. Desai, S.
Nimkarn, T. Brandt, L. Edelmann, L. Mehta.
998F Further clinical delineation of BPES associated
with microdeletions encompassing
FOXL2
.
K. Enom
Y. Sugawara, N. Furuya, M. Adachi, S. Mizuno, Y.
Yamanouchi, M. Masuno, T. Kondo, S. Doi, S. Mizutani,
Kurosawa.
999F A novel de novo microduplication of 1q21.3-q2
in a patient with growth retardation and developme
delay.
S. Gunn, M. N. Strecker, P. Mark, K. Hovanes.
1000F Copy number alterations in VACTERL
association detected by chromosomal microarray
analysis.
S. Y. Shin, E. J. Seo, J. O. Lee, M. Hong, K. J
Kim, A. R. E. Kim, H. W. Yoo, J. K. Ko, Y. H. Kim, I. S.
Park.
1001F Intragenic de novo deletion of
COL11A1
in a
patient with Stickler/Marshall syndrome.
M. L. Wiggi
B. J. Dave, D. L. Pickering, J. M. Stevens, D. M. Golde
J. M. Carstens, D. L. Bishay, E. T. Rush, R. Lutz, W. G.
Sanger.
1002F Analysis of clinical phenotype and inheritance
50 nuclear pedigrees carrying mitochondrial DNA
m.3243A>G mutation.
Y. Ma, F. Fan, Y. Cao, Y. Yang, J
Wang, L. Zou, Y. Zhang, S. Wang, S. Zhu, Y. Qi.