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1003F Relatively high frequency of patients with
Aarskogg syndrome in a group of patients with cleft
lip and palate from Operation Smile Foundation,
Colombia.
I. Briceno, A. Venegas, J. Martinez.
1004F Genome-wide association study identifies three
loci associated with pyloric stenosis.
B. Feenstra, F.
Geller, C. Krogh, M. V. Hollegaard, S. Gørtz, H. A. Boyd, J.
C. Murray, D. M. Hougaard, M. Melbye.
1005F A novel PAX9 mutation caused oligodontia in a
Japanese family.
M. Kida, T. Kikuiri, T. Ariga.
1006F Cafe Variome: A novel platform for the routine
exchange of genetic variation data.
O. Lancaster, R. K.
Hastings, R. Dalgleish, D. Atlan, G. A. Thorisson, R. C.
Free, A. Webb, J. Muilu, M. Byrne, A. Blavier, F. Wolinski,
P. E. M. Taschner, A. J. Brookes.
1007F
MLL2
mutation spectrum and clinical phenotype
in patients with Kabuki syndrome.
N. J. Lench, A. N.
Barrett, C. Gerveshi, N. Trump, R. Palmer, L. Jenkins, R.
H. Scott.
1008F Multiple or high flow cerebral arteriovenous
shunts in children: Prospective angiographic and
genetic analysis of 26 consecutive cases.
A. Ozanne,
M. Eyries, J. P. Pelage, T. Chinet, J. H. Blondel, F. Coulet,
J. Roume, L. Gouya, I. Bourgault-Villada, S. Blivet, D.
Corbazan, C. Fagnou, G. Lesur, M. C. Waill, P. Lasjaunias,
G. Saliou, D. Ducreux, B. Raffestin, P. Lacombe.
1009F One extra expanded allele in Huntington
patients does not affect the phenotype.
S. Dadgar, M.
Dehghan, O. Aryani, M. Houshmand.
1010F A male infant of Leigh syndrome complicated
with Fukuyama congenital muscular dystrophy.
H.
Kondo, C. Tabata, A. Yamada, K. Hayashi, M. Kotani, K.
Tanda, M. Kihara, Z. Kizaki, K. Murayama, A. Otake.
1011F Molecular analysis and genetic counseling in
tuberous sclerosis.
P. Balakrishnan, R. D. Puri, U.
Kotecha, S. Kohli, R. Saxena, S. Bijarnia, I. C. Verma.
1012F Whole-exome sequencing combined with
linkage analysis identifies BSCL2 mutations in two
Korean Charcot-Marie-Tooth families.
S. K. Koo, M. H.
Park, H. M. Woo, B. O. Choi, K. W. Chung.
1013F Differences in fractures and activity in children
with NF1.
E. K. Schorry, J. K. George-Abraham, M. B.
Rieley, D. A. Stevenson, D. H. Viskochil, L. J. Martin, H. J.
Kalkwarf, R. J. Hopkin, A. M. Stevens, S. Allen.
1014F Interstitial duplication 15q11-q13 syndrome:
Language impairment, autism, abnormal EEG patterns
and mild facial anomalies.
N. Urraca, J. Cleary, E.
Pivnick, K. McVicar, V. Brewer, R. Thibert, L. T. Reiter.
Friday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
The Exhibit Hall will close at 4:30 pm.
1015F Exome sequencing identifies a DYNC1H1
mutation in a large pedigree with dominant axonal
Charcot-Marie-Tooth disease.
M. N. Weedon, R.
Caswell, R. Hastings, W. Xie, K. Paszkiewicz, T. Antonia
M. Williams, C. King, L. Greenhalgh, R. Newbury-Ecob,
Ellard.
1016F Tay syndrome: A rare syndrome diagnosed in
two brothers.
F. T. de Lima, T. E. Sfakianakis, E. Perron
M. F. F. Soares, V. F. A. Meloni.
1017F Trajectories of cognitive-behavioral
development in children with Wolf-Hirschhorn
syndrome.
G. S. Fisch, J. C. Carey, A. Battaglia, R. Fal
R. Simensen.
1018F Variability of phenotype in monozygotic twins
with Charcot-Marie-Tooth type 4C.
P. Laššuthová, D.
Šišková, P. Seeman.
1019F Molecular testing enhances characterization
EVC phenotypes.
L. Mehta, H. Q. Rana, M. Galdzicka,
Ginns.
1020F Genetic effects on the craniofacial morpholog
of unaffected parents of children with oral clefts.
L.
Moreno, S. Miller, D. Defay, S. Weinberg, M. L. Marazita
J. C. Murray, G. L. Wehby.
1021F Association of CFH and HTRA1/ARMS2
polymorphisms with early-age related maculopathy.
Chen, J. H. Chen, Y. Yang, P. O. S. Tam, M. Zhang, C.
Pang.
1022F Clinical genetics resources at NCBI: ClinVar a
ISCA support evidence-based interpretation of hum
variation.
J. Paschall, D. R. Maglott, J. Lee, L. Phan, D.
M. Church, G. Riley, M. Ward, D. Shao, R. Maiti, R. Tull
S. Chitipiralla, J. Garner, S. Stefanov, M. Feolo, S. T.
Sherry, J. M. Ostell.
1023F Telegenetics clinics in the United States:
Successes, challenges, and future directions.
S. Au,
Andersson, L. Creel, S. Kubendran.
1024F A rare DNA variant in a cis-overlapping motif
an IRF6 enhancer element is associated with Van de
Woude syndrome.
W. Fakhouri, F. Rahimov, H. Zhou, T
Du, E. Kouwenhoven, H. van Bokhoven, J. Murray, B.
Schutte.
1025F Histopathologic changes associated with
development of retrosternal CDH in
Frem1
-deficient
mice.
T. F. Beck, M. J. Wat, B. J. Kim, H. Zaveri, O.
Shchelochkov, M. Justice, B. Lee, D. A. Scott.
1026F Infantile systemic hyalinosis presenting as
multiple joint pain.
B. Chung, E. Lausch, A. Superti-
Furga, T. Y. Tan.