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1116F Molecular diagnosis of neuromuscular diseases
by next-generation sequencing.
N. Vasli, J. Boehm, S.
Legras, J. Muller, F. Plewniak, C. Keime, S. Vicaire, B.
Jost, J.-L. Mandel, V. Biancalana, J. Laporte.
1117F Application of massive parallel sequencing to
the detection of somatic
NLRP3
mutations in
cryopyrinopathies.
E. Gonzalez, M. Ibañez, R. Merino, F.
Rius, S. Plaza, J. Yague.
1118F Molecular analysis in four Greek patients with
retinal degeneration establishes a spectrum of clinical
diagnosis:Iidentification of four novel mutations in
CHM, RS1, SPATA7 and RDS genes.
S. Kamakari, G.
Koutsodontis, C. Tsika, I. Datseris, M. Tsilimbaris.
1119F A novel mutation at F9 gene Iranian hemophilia
B patient.
L. Kokabee, M. Kokabee, S. Zeinali, M.
Karimipoor.
1120F A family of oculofaciocardiodental syndrome
with a novel
BCOR
mutation and genomic
rearrangements involving
NHS
.
Y. Kondo, H. Saitsu, K.
Nishiyama, Y. Tsurusaki, H. Doi, N. Miyake, T. Miyamoto,
N. K. Ryoo, J. H. Kim, Y. S. Yu, N. Matsumoto.
1121F Exome sequencing reveals a homozygous
mutation in
DPH1/OVCA1
associated with syndromic
craniosynostosis with ectodermal and developmental
abnormalities.
C. M. Loucks, A. M. Innes, F. P. Bernier, D.
R. McLeod, E. G. Puffenberger, K. M. Boycott, S. J.
Childs, J. S. Parboosingh.
1122F MLL2 haploinsufficiency and nonsense-
mediated mRNA decay as pathological mechanisms
for the Kabuki syndrome.
G. Merla, C. Fusco, B.
Augello, M. N. Loviglio, E. V. D'Addetta, A. Calcagni, L.
Micale.
1123F Molecular investigation into cystic fibrosis in
Omani patients.
A. Ouhtit, H. Al-Kindy, Q. Al-Salmi, S. Al-
Yahyaee, M. Al-Bimani, M. Al-Nabhani.
1124F A germline mutation in a family with Gaucher
disease.
N. Tayebi, H. Saranjam, S. Chopra, H. Levy, E.
Sidransky.
1125F Complete scanning of the HFE gene in Dutch
hereditary hemochromatosis patients.
M. J. van Belzen,
S. Smith, E. Bakker.
1126F Candidate gene functional analysis in
nonsyndromic sagittal craniosynostosis.
G. Yagnik, J.
Liu, C. Stevens, A. Ghuman, S. Kim, J. Kim, E. Cherkez,
D. Soung, H. Drissi, M. Buckley, T. Roscioli, S. A.
Boyadjiev.
1127F Exome sequencing reveals a novel homozygous
mutation in adult-onset autosomal recessive
spinocerebellar ataxia with psychomotor retardation.
H. Doi, K. Yoshida, Y. Tsurusaki, N. Miyake, H. Saitsu, H.
Sakai, Y. Kuroiwa, N. Matsumoto.
Friday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
The Exhibit Hall will close at 4:30 pm.
1128F The role of the JAK-Stat3 signaling pathway i
inherited photoreceptor degenerations.
K. C. Jiang,
J. Szego, A. N. Bramall, K. L. Wright, L. R. Pacione, W.
Hauswirth, S. E. Egan, R. R. McInnes.
1129F Mechanism and clinical severity of FIG4
mutations in Charcot-Marie-Tooth disease.
M. H.
Meisler, G. M. Lenk, S. Reddel, A. E. Grant, C. J.
Ferguson, C. Towne, J. M. Jones, L. G. Biesecker, S. D
Batish, G. Nicholson.
1130F Demyelinating sensory-motor neuropathy wit
secondary axonopathy: A novel mutation in
Connexin32.
A. Patitucci, C. Tortorella, M. Liguori, A.
Magariello, R. Mazzei, F. L. Conforti, W. Sproviero, L.
Citrigno, A. Morabito, C. Ungaro, A. Gambardella, M.
Muglia.
1131F Identification of the genetic defect causing
pontine autosomal dominant microangiopathy and
leukoencephalopathy using exome sequencing.
S.
Appenzeller, G. Kuhlenbäumer.
1132F Whole-exome sequencing to tackle genetic
heterogeneity in cortical malformations associated
with eye and muscle defects.
M. C. Manzini, R. S. Hill
J. Rodriguez, J. N. Partlow, B. Barry, W. B. Dobyns, M.
Salih, C. A. Walsh.
1133F Linkage and single exome analyses identify
ADCY5
as the gene for familial dyskinesia with facia
myokymia.
W. H. Raskind, Y.-Z. Chen, M. M. Matsushit
P. D. Robertson, M. Rieder, S. Girirajan, H. Lipe, E. E.
Eichler, D. A. Nickerson, T. D. Bird.
1134F Mutation in the neurofilament light chain gen
associated with facial diplegia and marked elevation
creatine kinase.
B. Rautenstrauss, N. Garcia-Angarita,
Schlotter-Weigel.
1135F Identification and functional studies of MLC1
mutations in Chinese patients with megalencephalic
leukoencephalopathy with subcortical cysts.
J. Wan
H. Xie, A. Dhauchak, J. Shang, H. Wei, Y. Wu, H. Xiong
Q. Gu, C. Ding, L. Wang, Z. Gao, D. Colman, X. Wu, Y.
Jiang.
1136F Genetic analysis and exome sequencing in
amyotrophic lateral sclerosis.
K. L. Williams, J. A.
Solski, J. C. Durnall, A. D. Thoeng, S. Waraich, G.
Rouleau, G. A. Nicholson, I. P. Blair.
1137F Role of IL-1
β
in NLRP12-associated
autoinflammatory disorders and resistance to anti-I
therapy.
I. Jéru, V. Hentgen, S. Normand, P. Duquesno
E. Cochet, A. Delwail, G. Grateau, S. Marlin, S. Amsele
JC. Lecron.
1138F Arteriosclerosis, emphysema and abnormal
elastogenesis in Schimke immuno-osseous dysplasi
M. Morimoto, Z. Yu, J. M. Clewing, K. Choi, B. Najafian
C. Mayfield, G. Hendson, J. G. Weinkauf, A. K. Gormle
D. M. Parham, T. Lücke, C. F. Boerkoel.