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1139F Clinical, molecular, and diagnostic features of
Hermansky-Pudlak syndrome type 3.
T. Gall, R. Hess, T.
Markello, E. Doherty, K. O'Brien, H. Doward, B. Gochuico,
N. Cardillo, A. Cullinane, W. Gahl, M. Huizing.
1140F Oligogenic disease models and ‘clan genomics’.
J. Lupski, J. Belmont, E. Boerwinkle, M. Bainbridge, C.
Gonzaga-Jauregui, R. Gibbs.
1141F Carrier screening in Romanian population for
GJB2-35delG gene mutation causing non-syndromic
E. Severin, C. Dragomir, A. Stan, N. Scribann,
L. Savu.
1142F 5’UTR region mutations in
gene cause
hereditary hemorrhagic telangiectasia.
K. Damjanovich,
C. Langa, C. Bernabeu, F. J. Blanco, J. McDonald, D. A.
Stevenson, P. Bayrak-Toydemir.
1143F Minor splicing defect in microcephalic
osteodysplastic primordial dwarfism type 1 (Taybi-
Linder syndrome).
P. Edery, C. Marcaillou, M. Sahbatou,
A. Labalme, J. Chastang, R. Touraine, E. Tubacher, F.
Senni, M.-B. Bober, S. Nampoothiri, P.-S. Jouk, E.
Steichen, S. Berland, A. Toutain, C.-A. Wise, D. Sanlaville,
F. Rousseau, F. Clerget-Darpoux, A.-L. Leutenegger.
1144F Mutations in SERPINF1 cause osteogenesis
imperfecta type VI.
E. Homan, F. Rauch, I. Grafe, C.
Lietman, J. Doll, B. Dawson, T. Bertin, D. Napierala, R.
Morello, R. Gibbs, L. White, R. Miki, D. Cohn, S.
Crawford, R. Travers, F. Glorieux, B. Lee.
1145F Spondylothoracic dysostosis, spondylocostal
dysostosis type 2, and the mutational spectrum of
MESP2: Protein modeling helps explain phenotypic
differences from the genotype.
P. D. Turnpenny, M.
Owens, K. Stals, E. Young, S. Phadke, I. Verma, O.
Braaten, M. Nielsen, L. Bonafé, A. Cornier, R. Caswell, S.
1146F Biochemical and molecular data of patients with
osteogenesis imperfecta type II - IV in the Netherlands
F. S. van Dijk, D. Micha, N. Ameziane, M.
Huizer, E. D. Setijowati, T. Uithuisje, A. Maugeri, G. Pals.
1147F Targeted re-sequencing of the remaining
22q11.2 region in atypical DiGeorge patients.
B. A.
Nowakowska, J. K. J. Van Houdt, A. Swillen, K. Devriendt,
S. Bouquillon, F. Novara, C. Le Caignec, M. Piotrowicz, W.
Hawula, A. Kutkowska-Kazmierczak, E. Obersztyn, J. R.
1148F Phage display predicts regions on MMACHC
that bind its partner MMADHC in human intracellular
cobalamin metabolism.
I. R. Miousse, M. Plesa, D. S.
Rosenblatt, J. W. Coulton.
Friday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
The Exhibit Hall will close at 4:30 pm.
1149F DFNB59 gene mutation screening using PCR-
SSCP/HA technique in non-syndromic genetic heari
loss in province of Iran.
F. Azadegan-Dehkordi, E.
Farrokhi, M. Saedi-Marghmaleki, M. Abolhasani, G.
Banetalebi, M. Montazer-Zohouri, M. Hashemzadeh-
1150F Ubiquitous expression of glucosylceramide-
synthesizing enzyme accelerates disease phenotype
a Gaucher disease mouse model.
S. Barnes, Y.-H. Xu
Y. Sun, W. Zhang, K. Setchell, G. Grabowski.
1151F Transgenic mouse model for MADA disease
displays severe pathology in skin organization and a
specific transcriptional profile in cutaneous fibrobla
M. R. D'Apice, A. Vielle, M. Bertoli, S. Sambucini, S.
Mariani, S. M. Lepore, D. Minella, B. Testa, G. Rossi, G.
Chillemi, G. Prosperini, S. Bueno, M. Federici, A. Botta,
Amati, G. Novelli.
1152F Pathogenic orphan transduction created by a
non-reference, rare LINE-1 retrotransposon.
S. Solyo
A. D. Ewing, D. C. Hancks, M. Matsuo, Y. Takeshima, H
Awano, H. H. Kazazian.
1153F A novel gene controls macular retina
development, corpus callosum and hippocampus
morphogenesis as well as immune function.
P. Bitou
E. Pipiras, B. Benzacken, A. Delahaye.
1154F Novel mutations in CNGA3 and CNGB3 cause
achromatopsia in the Newfoundland population.
Doucette, J. Green, C. Black, G. Johnson, T. L. Young.
1155F RD3 mutations are responsible for GUCY2D-li
I. Perrault, S. Hanein, N. Delphin, S. Gerber, N.
Aboussair, A. Megarbane, C. Edelson, C. Leowski, J.-L.
Dufier, O. Roche, A. Munnich, J. Kaplan, J.-M. Rozet.
1156F Transcriptional regulation of B°AT1 (Slc6a19),
the gene mutated in Hartnup disorder.
E. Tumer, S.
Broer, T. Juelich.
1157F Expression and characterization of the ALAS2
carboxy-terminal gain-of-function mutations causin
X-linked protoporphyria.
D. F. Bishop, V. Tchaikovskii,
Nazarenko, M. Balwani, D. Doheny, R. J. Desnick.
1158F Mutational screening of ARID/BRIGHT and
JmJC domains in
gene in Brazilia
men with intellectual disability of unknown etiology.
P. Gonçalves, N. F. Rodrigues, M. Campos, Jr., J. M.
Santos, M. M. G. Pimentel, C. B. Santos-Rebouças.
1159F Disease-associated NEMO mutations as a to
to unravel the key molecular mechanisms in NF-
A. Pescatore, E. Esposito, J. Gautheron, G.
Courtois, M. V. Ursini.
1160F Regulation of dendritic spine characteristics i
mouse brains by members of the Fmr1 gene family.
Zong, Z. Fang, D. Parghi, D. Nelson.