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984W IRF6, SNAP91, PRSS35 and CRISPLD2
contribute to the etiology of oral clefts in a Latin
American population (ECLAMC).
R. F. Fonseca, F.
Poletta, F. M. Carvalho, E. E. Castilla, A. R. Vieira, I. M.
Orioli.
985W Phenotype characterization of a sibship with
SDCCAG8
-related disease.
E. Héon, C. Deveault, G.
Billingsley.
986W Mutation screening of the
LPP
gene in patients
with esophageal atresia, tracheoesophageal fistula,
and VACTERL association.
A. Hernandez-Garcia, E.
Brosens, H. Zaveri, Z. Yu, C. Fernandes, A. Johnson, S.
Lalani, D. Tibboel, A. de Klein, D. A. Scott.
987W Case-parent trio genome-wide association study
identifies several candidate loci for nonsyndromic
sagittal craniosynostosis.
C. M. Justice, Y. Kim, G.
Yagnik, I. A. McMullen, H. Ling, P. A. Sanchez-Lara, V.
Kimonis, J. Stoler, M. Cunningham, A. F. Wilson, S. A.
Boyadjiev.
988W Statistical and biological evidence for AXIN2/
IRF6 interaction in oral facial clefting.
A. Letra, B. Bjork,
M. Copper, H. Szabo-Rogers, C. Brandon, J. Resick, K.
Bardi, F. W. B. Deleyiannis, L. L. Field, A. E. Czeiczel, L.
Ma, G. P. Garlet, F. A. Poletta, J. C. Mereb, J. S. Lopez-
Camelo, E. C. castilla, I. M. Orioli, S. K. Wendell, K. L. Liu,
M. L. Marazita, A. R. Vieira, R. Menezes.
989W Refining the 2p15-p16 microdeletion syndrome.
R. Lozano, W. Wilcox.
990W Microduplication on chromosome 17q23.1q23.2
involving TBX4 is not a common cause of
nonsyndromic clubfoot.
W. Lu, C. A. Bacino, S.
Richards, J. T. Hecht.
991W Association analysis of
MSX1
,
AXIN2
, and
PAX9
with palatally displaced canines in subjects exhibiting
no lateral incisor agenesis.
L. A. Morford, D. L. Kujak, G.
Falcão-Alencar, D. W. Fardo, J. V. Macri, J. K. Hartsfield,
Jr.
992W Comparison of neoplastic phenotypes in
Cowden/Cowden-like syndrome characterized by
germline
SDHx
variants,
PTEN
mutations versus
KLLN
epimutations.
Y. Ni, M. H. Tan, K. Bennett, J. Mester, J.
Chen, J. Moline, M. Orloff, C. Eng.
993W Analyzing the contribution of GTF2IRD1 to
Williams-Beuren syndrome: Mouse knockout
phenotypes and molecular mechanisms.
S. J. Palmer,
J. Widagdo, K. M. Taylor, S. Bontempo, M. Howard, A. C.
Wong, G. D. Housley, A. J. Hannan, P. W. Gunning, E. C.
Hardeman.
994W HoxA9 regulatory SNP is associated with
clubfoot and alters gene expression.
T. Powell, K. S.
Weymouth, S. Richards, C. V. Patel, S. H. Blanton, J. T.
Hecht.
Wednesday Poster Authors are reminded to remove posters from the boards at 6:30 pm.
995W Investigation of molecular basis of X-linked
mandibulofacial dysostosis with cleft palate.
N.
Sobreira, A. Telegrafi, L. Cirulli, P. Pichurin, D.
Avramopoulos, M. Gunay-Aygun, A. Hamosh, D. Valle.
996W Increased need for medical intervention in
children with 22q11.2 deletion (velocardiofacial)
syndrome.
E. King, K. Stanford, B. J. Leech, H. M. Saa
J. James, S. R. Callahan, S. Geraghty, I. Sageser, R. J.
Hopkin.
997W A complex cardiac abnormality associated wit
deletion of the NOTCH1 gene.
D. Myles-Reid, L. Nield
P. Shannon, R. Teitelbaum, M. Thompson, D. Chitayat.
998W R179H mutation in ACTA2 expanding the
phenotype to include Prune-Belly sequence and ski
manifestations.
J. Richer, D. M. Milewicz, R. Gow, J. d
Nanassy, G. Maharajh, E. Miller, L. Oppenheimer, M.
O’Connor.
999W Congenital diaphragmatic hernia syndromes a
involvement of 1q41.
J. Shieh, A. Slavotinek.
1000W Five case reports with Opitz G/B.B.B syndro
Two patients with chromosomal abnormalities; X
chromosome duplication (47, XXY) and translocatio
46XX t(3q;4q), in the Hospital Para El Niño Poblano.
Aparicio, M. D. L. Hurtado, I. Marroquin, G. A. Rojas, p.
Sanchez, S. Rodriguez, R. Zamudio.
1001W MECP2 duplication (453 Kb) clinical
manifestations in a four generation family.
J. Bartley,
Park.
1002W Genetic medicine: The NIH Undiagnosed
Diseases Program model.
C. F. Boerkoel III, D. Adams
T. Markello, C. Toro, C. J. Tifft, W. A. Gahl.
1003W Orbicularis oris muscle thickness and area i
cleft lip with or without cleft palate families versus
controls.
C. A. Brandon, T. Parsons, J. Joseph, M. E.
Cooper, R. DeSensi, S. M. Weinberg, K. Neiswanger, K.
Schmidt, J. M. Resick, K. Bardi, M. L. Marazita.
1004W
CYP1B1
mutations in Spanish families with
primary congenital glaucoma: identification of six
novel mutations and association with early diagnosi
J. Escribano, M. P. Lopez-Garrido, L. Morales, J. M.
Martinez-de-la-Casa, M. T. Garcia-Anton, J. Garcia-Feij
1005W De novo 5q14.3 deletion in a child with
developmental delay, microcephaly, venous
malformation and seizures.
A. Guerin, R. Babul-Hirji,
Al-Zaidy, E. Donner, M. Shago, D. Chitayat.
1006W A longitudinal analysis of clinical features in
patients labeled cerebral palsy and global
developmental delay, define chronic complex disord
syndrome: An undefined clinical entity or genetic
disorder?
J. Kapalanga, Y. Said, D. Wong, A. Gandy, M
Moyo, N. Nwebube, A. Singh.