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1072W Regulation of
PLP1
alternative splicing by
secondary structure.
G. Hobson, J. Taube, K. Sperle, B.
Cavan, J. Garbern.
1073W Splice site variants in the Wilson disease gene,
ATP7B
, that affect splicing of an exon 18 minigene.
G.
Macintyre, A. M. E. Wilson, D. W. Cox.
1074W Discovery of mRNA splicing mutations in the
human gene mutation database by SNP-based
information theory prediction confirmed by expression
microarray analysis.
E. J. Mucaki, X. Sun, P. K. Rogan.
1075W Novel MFN2 mutations in two familial cases
with Charcot-Marie-Tooth type 2A.
M. Muglia, A.
Patitucci, D. Messina, A. Magariello, G. Nicoletti, R.
Mazzei, F. L. Conforti, C. Ungaro, L. Citrigno, I. Mikerezi,
W. Sproviero, A. Gambardella.
1076W Deep intronic mutations flanking the
alternatively spliced
NF1
exon 31/23a cause
missplicing preferentially including exon 31/23a in the
transcript.
J. Xie, T. Callens, J. Williams, L. Messiaen.
1077W The genetic etiology of otosclerosis in the
genetic isolate of Newfoundland, Canada.
N.
Abdelfatah, A. Griffin, K. Hodgkinson, T. Batten, S. Moore,
J. Houston, C. Negrijn, T. Young.
1078W Homozygous chromosomal microdeletion of
NEUROG1
in a consangineous family: A new human
gene for the development of cranial sensory ganglia
and inner ear neurons causing syndromic hearing loss,
Mondini malformation, and gulp and mouth motor
disorder.
O. Bartsch, J. Schröder, A. K. Lä
β
ig, A.
Keilmann, W. Müller-Forell, D. Galetzka.
1079W
AQP4
and syndromic Menière’s disease.
C. A.
Campbell, N. C. Meyer, L. T. TeGrootenhuis, C. C. Della
Santina, J. P. Carey, L. B. Minor, M. R. Hansen, B. J.
Gantz, R. J. H. Smith.
1080W Rationalization of molecular diagnosis of Usher
syndrome in the Spanish population.
T. Jaijo, E. Aller, G.
Garcia-Garcia, M. J. Aparisi, J. M. Millan.
1081W Assessment of GJB6, GJB4, and GJC3 genes
for double heterozygosity with GJB2 heterozygots in
autosomal recessive non-syndromic hearing
impairment patients.
D. Kooshavar, M. R. Noori Daloii,
M. Hashemzadeh Chaleshtori.
1082W Examination of gene expression patterns
associated with PMP22-related auditory dysfunction.
M. J. Kovach, T. A. Carver, W. R. Bolus.
1083W Pitfalls in the etiological diagnosis of
sensorineural hearing loss in Brazil.
P. Z. Ramos, A. M.
Castilho, V. C. S. de Moraes, E. L. Sartorato.
Wednesday Poster Authors are reminded to remove posters from the boards at 6:30 pm.
1084W Forward genetics to identify novel
neuromuscular genes in zebrafish.
V. Gupta, S. R.
Gundry, M. Discenza, A. T. Chen, Y. Zhou, L. I. Zon, A.
Beggs.
1085W A multiplex kindred with severe Buruli ulcer
displaying Mendelian inheritance.
Q. B. Vincent, A.
Chauty, M. F. Ardant, H. Dokponou, J. Gnossike, H.
Koussemou, L. Marsollier, J. L. Casanova, L. Abel, A.
Alcais.
1086W Target gene selection and dual genome
analysis by next-generation sequencing for
mitochondrial disorders.
W. Zhang, H. Cui, F. Li, l. Wo
1087W
FKBP10
-null mutation in recessive type XI OI
leads to abnormal collagen trafficking to Golgi.
A. M
Barnes, W. A. Cabral, E. Makareeva, M. Weis, W. Chan
L. Felley, D. Eyre, S. Leikin, C. Trujillo, J. C. Marini.
1088W Leri Weill syndrome caused by a duplication
cis-regulatory DNA elements downstream of SHOX
gene.
D. Coviello, L. Capone, M. Baffico, R. Bertorelli,
Iughetti, B. Predieri, S. Vanelli, B. Stasiowska, M. Baldi,
Forabosco.
1089W Musculo-contractural Ehlers-Danlos syndro
(EDS type VIB): A new EDS-subtype caused by a
defect in proteoglycan biosynthesis.
A. De Paepe, P.
Vlummens, D. Syx, S. Nampoothiri, S. Symoens, F.
Malfait.
1090W Novel canine chondrodysplasia mutation.
K.
Kyöstilä, H. Lohi.
1091W Identification by exome sequencing of
truncating mutations in the last exon of NOTCH2 as
cause of Hajdu-Cheney syndrome, a rare disorder w
osteoporosis.
C. Le Caignec, B. Isidor, P. Lindenbaum,
Pichon, S. Bezieau, C. Dina, S. Jacquemont, D. Martin-
Coignard, C. Thauvin-Robinet, M. Le Merrer, J. L. Mand
A. David, L. Faivre, V. Cormier-Daire, R. Redon.
1092W Mutations in the TGF
β
binding protein-like
domain 5 of FBN1 are responsible for acromicric an
geleophysic dysplasias.
C. Le Goff, C. Mahaut, L. W.
Wang, S. Allali, A. Abhyankar, S. Jensen, L. Zylberberg,
Collod-Beroud, C. Bole-Feysot, P. Nischtke, P. Handfor
J. L. Casanova, C. Boileau, S. S. Apte, A. Munnich, V.
Cormier-Daire, Clinical Consortium of Geophysic and
Acromicric Dysplasias.
1093W Sc65 is a novel regulator of bone homeostas
R. Morello, B. Hendrix, K. Gruenwald, P. Castagnola, D.
Gaddy, L. J. Suva.
1094W Whole-exome sequencing in Fine-Lubinsky
syndrome reveals a promising candidate gene.
D. R.
Murdock, P. Campeau, J. Lu, M.-C. Gingras, D. Scott,
Gibbs, B. Lee.