Page 255 - ASHG 2013 Program Guide

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POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
3156
T In silico and molecular analyses of mutations
that alter mRNA splicing of
COL1A1
.
J. Schleit, S.
Bailey, T. Tran, D. Chen, P. H. Byers.
3157
F Characterization of
Escherichia coli
-
expressed
acidic mammalian chitinase.
A. Kashimura, K. Okawa,
K. Ishikawa, Y. Kida, K. Iwabuchi, Y. Matsushima, M.
Sakaguchi, Y. Sugahara, F. Oyama.
3158
W Total uniparental isodisomy of all 23 paternal
chromosomes with whole genome homozygozity in
blood but not in skin in a Czech girl with deafness.
P. Seeman, M. Malíková, J. Neupauerová, M. Trková, M.
Putzová.
3159
T Genotype and family analysis of 68 Thai families
with Duchenne muscular dystrophy.
L. Choubtum, K.
Taweechue, W. Khunin, S. Nujarean, C. Limwongse, D.
Wattanasirichaigoon.
3160
F Novel mutations in
EDA
gene in hypodontia and
curly hair.
J.-W. Kim, K.-E. Lee, J. Ko.
Development
3161
W Defects in
Nek8
result in abnormal specification
of developmental patterning, polycystic kidney
disease, and impaired response to replication stress.
D. R. Beier, D. K. Manning, M. Sergeev, S. Houghtaling, P.
Czarnecki, M. Garnass, H. J. C. Choi, W. Goessling, K. A.
Cimprich, J. V. Shah.
3162
W Mutation in the mouse homolog of
C5ORF42
disrupts ciliogenesis and causes cerebellar defects
and other Joubert syndrome phenotypes associated
with the disruption of SHH signaling.
R. Damerla, C. Cui,
G. Gabriel, X. Liu, B. Gibbs, R. Francis, Y. Li, B. Chatterjee,
M. Srour, J. L. Michaud, G. J. Pazour, C. W. Lo.
3163
W NIH study, Clinical and Molecular
Investigations into Ciliopathies: Findings on Joubert
syndrome and related disorders.
J. K. de Dios,
D. Doherty, I. G. Phelps, T. Vilboux, A. Cullinane, D.
Yildirimli, J. Shendure, B. O’Roak, J. Bryant, W. Zein, B.
Brooks, R. Fischer, K. Daryanani, B. Turkbey, P. Choyke,
J. Snow, T. Heller, M. Parisi, M. Huizing, W. A. Gahl, M.
Gunay-Aygun.
3164
W Nephronophthisis type 3 with bone marrow
fib osis caused by
NPHP3
gene mutations: Expanding
the clinical phenotype of a ciliopathy.
E. Leon, T. Biagi,
K. Mistry.
3165
W Investigating the clinical features and genetics
of idiopathic generalized epilepsy starting in mothers
of babies with epilepsy.
S. Ghavimi, H. Azimi.
3166
W The role of fibrillin-1 in human mesenchyme
stem cell adipogenesis.
M. R. Davis, C. Duffy, P.
DeSousa, V. MacRae, K. M. Summers.
3144
T The role of molecular genetic analysis in the
diagnosis of primary ciliary dyskinesia.
R. H. Kim, D. A.
Hall, E. Cutz, M. R. Knowles, K. Nelligan, K. Nykamp, M.
A. Zariwala, S. D. Dell.
3145
F Genotype-phenotype correlation in Bardet- Biedl
syndrome.
O. Mhamdi, H. Chaabouni.
3146
W Fragile X triplet repeat instability is influenced
by both the presence and position of AGG interruptions
in intermediate and premutation alleles.
S. Nolin, R.
Cao, J. Taylor, A. Glicksman, N. Ersalesi, W. T. Brown, J.
Coppinger, G. Latham, A. Hadd.
3147
T Identification of a novel nonsense mutation
and a missense substitution in the
AGPAT2
gene
causing congenital generalized lipodystrophy type 1.
A. Haghighi, M. Razzaghy-Azar, A. Talea, M. Sadeghian, S.
Ellard, A. Haghighi.
3148
F Phenotype - genotype correlation in a
Colombian oculocutaneous albinism cohort.
C.
Lattig, D. Sanabria, A. Fernandez, O. Urtatiz, Fundacion
Contraste - Albinos por Colombia.
3149
W Support to the International Rare Diseases
Research Consortium: A new service to the research
community.
P. Lasko, B. Cagniard, S. Höhn, R. Favresse,
D. Désir-Parseille, S. Peixoto, M. Bellanger, N. Lévy, S.
Aymé.
3150
T Role of CFTR in regulating spermatogenesis and
implications in male infertility.
H. Sharma, R. Prasad, S.
K. Singh, R. Mohan.
3151
F Milder course in Duchenne patients with
nonsense mutations and no muscle dystrophin.
M.
Zatz, R. C. M. Pavanello, M. Lazar, N. C. V. Lourenço, A.
Cerqueira, L. Nogueira, M. Vainzof.
3152
W
MEFV
gene mutation detection In Arabic
patients.
R. Taha, S. Ayesh, M. Kambouris, H. El-Shanti.
3153
T PhenomeCentral: An integrated portal for
sharing and searching patient phenotype data for rare
genetic disorders.
M. Brudno, M. Girdea, S. Dumitriu,
S. Köhler, P. N. Robinson, A. J. Brookes, K. Boycott,
C. F. Boerkoel, W. A. Gahl, Canadian CARE for RARE
Consortium (FORGE) and NIH Undiagnosed Diseases
Program.
3154
F Ocular phenotypes in aneurysm syndromes
collected from GenTAC (National Registry of
Genetically Triggered Thoracic Aortic Aneurysms and
Cardiovascular Conditions) Registry.
G. Oswald, K. W.
Holmes, S. LeMaire, W. Ravekes, N. B. McDonnell, C.
Maslen, R. V. Shohet, R. E. Pyeritz, R. Devereux, D. M.
Milewicz, E. M. Reynolds, J. P. Habashi, GenTAC Registry
Consortium.
3155
W Budd-Chiari syndrome as the presenting
symptom of familial thrombotic thrombocytopenic
purpura caused by a novel frameshift mutation of
ADAMTS13
.
R. Parvari, M. Arafat, K. Akel, B. Yerushalmi,
M. Aviram, D. Landau.