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1137W Contribution of
GH
and
GHRHR
mutations to
isolated growth hormone deficiency: Identification and
functional characterization of new variants.
S.
Amselem, M. L. Sobrier, F. Dastot-Le Moal, N. Collot, S.
Rose, A. Soleyan, P. Duquesnoy, B. Copin, M. Legendre.
1138W A novel spontaneous autosomal recessive
mutation/deletion that causes a multifarious alopecia-
like phenotype in mouse.
H. Beauchemin, C.
Polychronakos.
1139W Exome sequencing strategy in a family with
congenital fiber-type disproportion and insulin
resistance reveals an unexpected excess of non-
synonymous variants.
T. Esposito, D. Formicola, S.
Magliocca, M. Simonetti, O. Farina, F. Cipullo, S.
Sampaolo, F. Gianfrancesco, G. Di Iorio.
1140W The novel M1304R mutation in the von
Willebrand factor gene (VWF) causes defective VWF
multimerization and storage and results in type 2 von
Willebrand disease.
J. Hinckley, J. Chen, R. Montgomery,
S. Haberichter, R. Wong, J. Lopez, J. Di Paola.
1141W CHD7 mutations causing CHARGE syndrome
are predominantly of paternal origin.
J. Kohlhase, N.
von Velsen, P. Burfeind, M. Steckel, J. Maenz, A.
Buchholz, W. Borozdin, S. Pauli.
1142W Mutations in MAP3K1 cause 46, XY DSDs by
shifting the balance in downstream signaling
pathways.
J. Loke, A. Pearlman, S. Blais, T. Neubert, H.
Ostrer.
1143W Identification of a novel missense mutation in
exon 4 of the human factor VIII gene associated with
severe hemophilia A patient.
H. Onsori, M. A.
Hosseinpour Feizi, Sh. Mintasser Kouhsari, A. A.
Hosseinpour Feizi.
1144W Histone acetylation deficits in lymphoblastoid
cell lines from Rubinstein-Taybi syndrome patients.
C.
Gervasini, J. P. Lopez-Atalaya, S. Spena, F. Mottadelli, M.
Piccione, A. Selicorni, A. Barco, L. Larizza.
1145W Identification of a new gene involved in IHH
and ataxia by positional cloning of a patient with a
balanced translocation t(3;12)(p13;p13).
H. Kim, R.
Ullmann, H. Ropers, V. Kalscheuer, L. Layman.
1146W Microarray-based copy number analysis can
identify genomic disruptions of PHEX causing X-linked
hypophosphatemic rickets.
S. Mumm, D. Wenkert, M.
Huskey, V. A. Wollberg, M. P. Whyte.
1147W Approach to the genetic dissection of primary
ciliary dyskinesia in the Qatari population.
A. S. Al-
Dosari, Y. A. Alsarraj, I. A. Janahi, A. Saadoon, S. F.
Mohammed, J. Alami, H. I. Elshanti.
Wednesday Poster Authors are reminded to remove posters from the boards at 6:30 pm.
1148W The ciliopathy gene cc2d2a controls zebrafis
photoreceptor outer segment development through
role in Rab8-dependent vesicle trafficking.
R.
Bachmann-Gagescu, I. G. Phelps, G. Stearns, B. A. Lin
S. Brockerhoff, C. B. Moens, D. Doherty.
1149W Mutational analysis of
SDCCAG8
in Bardet-
Biedl syndrome patients with severe renal disease.
Billingsley, C. Deveault, E. Héon.
1150W A critical review of the human ciliopathy-
related literature reveals a need for revision of
diagnostic criteria.
C. Deveault, G. Billingsley, E. Héon
1151W Genetic and phenotypic characterization of a
ovine large animal model of the MKS/JBTS/NPHP
ciliopathy, Meckel-Gruber syndrome.
M. R. Eccles, B.
Lett, C. Stayner, A. Wiles, L. Slobbe, K. Parker, A. C.
Johnstone, R. J. Walker, A. C. Poole, J. McEwan, D.
Markie.
1152W
NEK1
is not responsible for all short rib
polydactyly, Majewski type or for Beemer Langer
cases.
J. El Hokayem, C. Huber, G. Baujat, C. Bauman
D. Calvacanti, F. Collins, A. L. Delezoide, M. Gonzales,
Johnson, M. Le Merrer, A. Levy-Mozziconacci, D. Marti
Coignard, G. Mortier, M. J. Perez, L. Olivier-Faivre, J.
Roume, G. Scarano, C. Thauvin-Robinet, A. Munnich, V
Cormier-Daire.
1153W Strain-specific differences in perinatal viabilit
support genetic modifiers in Bardet-Biedl syndrome.
L. Gottlieb, D. Nishimura, C. Searby, K. Bugge, V. C.
Sheffield.
1154W
PKD1
hypomorphic alleles act as major
modulators of disease severity in autosomal domina
polycystic kidney disease.
K. Hopp, S. Rossetti, C. J.
Ward, C. M. Heyer, J. L. Sundsbak, V. E. Torres, P. C.
Harris.
1155W Next-generation exon re-sequencing of 86
ciliopathy candidate genes in 480 individuals using a
DNA pooling strategy.
E. A. Otto, J. L. Innis, F.
Hildebrandt.
1156W Primary ciliary dyskinesia caused by
homozygous mutation in DNAL1 encoding dynein lig
chain 1.
R. Parvari, M. Mazor, S. Alkrinawi, V. Chlifa-
Caspi, E. Manor, V. C. Sheffield, M. Aviram.
1157W Mutations of NEK1 cause short rib-polydacty
syndrome type Majewski with defective ciliogenesis.
C. T. Thiel, K. Kessler, A. Giessl, A. Dimmler, S. A. Shal
S. von der Haar, M. Zenker, D. Zahnleiter, H. Stoess, E.
Beinder, R. Abou Jamra, A. B. Ekici, N. Schroeder-Kres
T. Aigner, T. Kirchner, A. Reis, J. Brandstaetter, A. Rauc