Page 235 - ASHG 2012 Annual Meeting Program Guide

224
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
2737
W Linkage analysis in families with autosomal
dominant corneal dystrophies.
D. Singh, V. Vanita.
2738
T A novel chromosomal locus in a family with
primary ciliary dyskinesia.
R. Parvari, M. Mazor, S.
Alkrinawi, V. C. Sheffield, M. Aviram.
2739
F Polymorphism of
VEGF+674
gene as potential
risk factor for age related macular degeneration in
Indian patients.
D. Gupta, V. Gupta, S. Chawla, S. R.
Phadke.
2740
W Whole genome analysis identifies mutations
in inositol polyphosphate phosphatase-like 1 as the
cause of opsismodysplasia.
J. E. Below, D. Earl, K. M.
Bofferding, M. J. McMillin, J. Smith, E. Turner, M. Stephan,
L. Al-Gazali, J. Hertecant, D. H. Cohn, D. A. Krakow, D. A.
Nickerson, M. J. Bamshad.
2741
T Novel loci for autosomal dominant nocturnal
frontal lobe epilepsy.
S. E. Heron, M. Bahlo, K. R. Smith,
P. Hickey, C. Bromhead, C. P. Derry, J. S. Duncan, S.
Howell, S. F. Berkovic, I. E. Scheffer, L. M. Dibbens.
2742
F Identification of a new gene for X-linked
Charcot-Marie-Tooth neuropathy using linkage and
exome analysis.
M. Kennerson, E. Yiu, D. Chuang,
S.-C. Tso, C. Ly, A. Kidambi, G. Perez Siles, M. Ryan, G.
Nicholson.
2743
W A novel splice site mutation in
Erlin2
gene
causes complicated form of hereditary spastic
paraplegia in a Saudi family.
S. Majid, S. Bohlega, S.
Hagos, H. Dossari, K. Ramzan, Z. Hassnan.
2744
T Clinical and genetic study of a new form of
familial multiple keratoakanthoma in a Tunisian family:
The palmoplantar familial multiple keratoacanthoma.
O. Mamaô, L. Boussofara, L. Adala, I. Ben Charfeddine, S.
Bouraoui, A. Amara, R. Nouira, M. Denguezli, B. Sriha, M.
Gribaa, A. Saad.
2745
F
FBLN5
mutation as the cause of HMSN I in
a Czech family: Usefulness of combination of SNP
linkage and exome sequencing analysis.
D. Brozˇková, P.
Lasˇsˇuthová, J. Lisonˇ ová, M. Kru˚ tová, P. Seeman.
2746
W Expansion of a repeat motif in the
5’
untranslated region of
EIF4A3
causes craniofacial
and limb defects (Richieri-Costa-Pereira syndrome).
F.
Favaro, R. M. Zechi-Ceide, L. Alvizi, J. Souza, T. M. Felix,
S. R. F. Twigg, S. J. McGowan, A. O. M. Wilkie, A. Richieri-
Costa, M. L. Guion-Almeida, M. R. Passos-Bueno.
2747
T A recurrent mutation of keratin 4 gene causing
white sponge nevus in a Japanese family.
M. Kimura,
T. Nagao, J. Machida, S. Yamaguchi, A. Shibata, G.
Takeuchi, H. Miyachi, K. Shimozato, Y. Tokita.
2748
F Molecular analysis of benign familial neonatal-
infantile convulsion in a Japanese family.
Y. Yamada, K.
Yamada, D. Fukushi, K. Miura, N. Nomura, A. Yamano, T.
Kumagai, N. Wakamatsu.
2723
T C-terminal frameshift truncation and extension
mutation in
POU3F4
.
W. Park, B. Choi, D. Kim, A. Kim.
2724
F Dominant allele of
DFNM1
suppresses
DFNB26
associated recessive hearing loss.
R. Yousaf, Z. M.
Ahmed, G. Nayak, R. J. Morell, S. Sumanas, E. R. Wilcox,
S. Riazuddin, T. B. Friedman, S. Riazuddin.
2725
W Phenome-wide, cross-species comparisons
identify novel disease genes with high accuracy.
D. P.
Smedley, C. J. Mungall, S. C. Doelken, S. Köehler, B. J.
Ruef, M. Westerfield, P. N. Robinson, S. E. Lewis, W. C.
Skarnes, Members of Mouse Genetics Project.
2726
T Mutation screening in
CYP1B1
in glaucoma
cases from North India.
A. Bhardwaj, V. Vanita.
2727
F Screening of
SOX10
and
MITF
regulatory regions
in Waardenburg syndrome type 2.
N. Bondurand, V.
Baral, A. Chaoui, Y. Watanabe, M. Goossens, T. Attie-
Bitach, S. Marlin, V. Pingault.
2728
W Utilization of gene mapping and candidate gene
mutation screening for diagnosing clinically equivocal
conditions.
V. Chini, D. Stambouli, F. M. Nedelea, G. A.
Filipescu, D. Mina, H. El-Shanti, M. Kambouris.
2729
T Search for a new gene responsible for non-
syndromic craniosynostosis.
S. El Chehadeh-Djebbar, F.
Di Rocco, C. Collet, M. Le Merrer, J. Puechberty, G. Lefort,
B. Aral, S. Lambert, N. Gigot, M. Payet, C. Ragon, N.
Marle, A.-L. Mosca-Boidron, J.-R. Teyssier, F. Mugneret, C.
Thauvin-Robinet, P. Sarda, L. Faivre, P. Callier.
2730
F Mutation screening in
CNGA1
in an autosomal
recessive retinitis pigmentosa family.
S. Goyal, V. Vanita.
2731
W A novel mutation of the nicastrin (
NCSTN
)
gene in a large Indian family with autosomal dominant
hidradenitis suppurativa (or acne inversa).
D. Jhala, U.
Ratnamala, T. Y. Mehta, F. M. S. Al-Ali, M. Raveendrababu,
S. S. Chettiar, M. V. Rao, S. Nair, J. J. Sheth, M. R.
Kuracha, S. K. Nath, U. Radhakrishna.
2732
T A systematic approach to identifying disease
genes in Mullerian aplasia.
H.-G. Kim, H. K. Nishimoto,
R. Ullmann, J. A. Phillips III, Y. Shen, R. H. Reindollar, H. H.
Ropers, V. M. Kalscheuer, L. C. Layman.
2733
F Linkage analysis in an autosomal recessive
retinitis pigmentosa family.
V. Kumar, S. Saini.
2734
W Homozygosity mapping and mutation profile
of the
MYO7A
gene in Saudi patients with Usher
syndrome.
K. Ramzan, M. Al-Owain, K. Taibah, G. Bin-
Khamis, R. Allam, A. Al-Mostafa, S. Al-Hazza, F. Imtiaz.
2735
T Mutation analysis in an autosomal recessive
retinitis pigmentosa family.
S. Saini, J. R. Singh, V.
Vanita.
2736
F The role of
APCS
and
RBP4
genes as modifiers
of age-at-onset in familial amyloid polyneuropathy
(
FAP ATTRV30M).
D. Santos, T. Coelho, J. L. Neto, J. P.
Basto, J. Sequeiros, I. Alonso, C. Lemos, A. Sousa.