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1082T De novo copy number variants associated to
intellectual disability have a paternal origin and age
bias.
J. Y. Hehir-Kwa, B. Rodríguez-Santiago, L. E.
Vissers, N. de Leeuw, R. Pfundt, L. A. Pérez-Jurado, J. A.
Veltman.
1083T
Withdrawn
1084T Mitotic microhomology-mediated replication-
based mechanisms underly non-recurrent pathogenic
microdeletions of the
FOXL2
gene or its regulatory
domain.
H. Verdin, B. D'haene, Y. Novikova, D. Beysen, P.
Lapunzina, J. Nevado, C. Carvalho, J. R. Lupski, B.
Menten, E. De Baere.
1085T A de novo paradigm for intellectual disability.
L.
Vissers, J. de Ligt, B. van Bon, C. Gilissen, M. Willemsen,
I. Janssen, J. Schuurs-Hoeijmakers, M. Steehouwer, W.
Nillesen, P. de Vries, K. van der Donk, B. van Lier, P. Arts,
H. Scheffer, N. Wieskamp, M. del Rosario, A. de Brouwer,
A. Hoischen, T. Kleefstra, B. de Vries, H. Brunner, J.
Veltman.
1086T A cell-based translocation assay system for
screening plant extracts for fibroblast growth factor
receptor 3 (FGFR3) modulators: Therapy of FGFR3-
related skeletal dysplasias and cancers.
Y. Lee, C. Tai,
C. Ko, R. Wu, K. King, Y. Chen.
1087T Molecular analysis of 246 patients with
oculocutaneous albinism.
B. Arveiler, E. Lasseaux, C.
Rooryck-Thambo, A. Rouault, D. Cailley, C. Plaisant, D.
Lacombe, A. Taieb, F. Morice-Picard.
1088T The LMNA c. 1968+5G>C transversion leads to
progerin generation and Hutchinson-Gilford progeria
syndrome.
V. Benoit, P. Hilbert, I. Maystadt, C. Gaspard,
S. Castedo, T. Kay.
1089T Novel EVC and EVC2 mutations in Ellis-van
Creveld syndrome and Weyers acrofacial dysostosis.
A. De Luca, M. C. D'Asdia, M. Magliozzi, R. Ferese, F.
Consoli, V. Guida, L. Bernardini, M. C. Digilio, B. Marino,
B. Dallapiccola, I. Torrente.
1090T Screening for microdeletion/duplication
syndromes and subtelomeric deletion/duplications in
patients with unexplained mental retardation using
MLPA analysis.
F. B. Essop, C. A. Robinson, A. Krause.
1091T Detection of inherited mutations for Alport
syndrome using next-generation sequencing.
P. Hilbert,
M. Lizon, D. Goossens, J. Del-Favero, K. Dahan.
1092T Spinal muscular atrophy in Singapore: An
eleven-year experience in a diagnostic laboratory.
H. Y.
Law, I. S. L. Ng, G. P. Tan, C. S. Yoon, E. S. Tan, S. S.
Jamuar, A. H. M. Lai.
1093T Molecular screening of ichthyosis vulgaris in
Iranian patients.
S. Matoo, N. Hatamnejadian, A. Yasari
Mazandarani, A. Tavakoli Tameh, B. Sedaghati Khayat, M.
Mahdavi, SH. Abadpour, A. Ebrahimi.
Thursday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
1094T Identification of 15 novel mutations in Sotos
syndrome.
S. Boulanger, M. D'amico, A. Destree, I.
Maystadt, D. Lederer, H. Van Esch, J. Van Den Ende, N
Van Der Aa, K. Segers, P. Hilbert.
1095T Detection of a mutation in Lenz microphthal
family by exome sequencing.
T. Kaname, K. Yanagi, Y
Muramatsu, T. Tohma, H. Hanafusa, K. Morita, S.
Ikematsu, Y. Itagaki, K. Kurosawa, S. Mizuno, K. Yoshiu
K. Naritomi.
1096T Homozygous and heterozygous
IGFALS
mutations are detected in a significant fraction of
patients with primary IGF-I deficiency and postnatal
growth deficit.
A. Campos-Barros, S. de Frutos, E.
Barroso, A. Gómez, R. Gracia-Bouthelier, J. Sánchez d
Pozo, E. Gallego, K. E. Heath.
1097T TSHR is the main causative locus in autosom
recessively inherited thyroid dysgenesis.
H. Cangul,
Tarim, Z. Aycan, H. Saglam, T. Yakut, Y. Cesur, E. Bobe
G. A. Kirby, M. Karkucak, E. Eren, V. Bas, S. Cetinkaya,
Demir, S. A. Yuca, S. Pasha, J. R. Forman, M. Kendall,
Karthikeyan, N. Shaw, J. Kirk, W. Hogler, T. G. Barrett,
R. Maher.
1098T Short stature and mutations in the ghrelin
receptor (GHSR) gene.
M. Legendre, J. Pantel, C. Laz
S. Cabrol, N. Collot, F. Dastot, P. Duquesnoy, L. Hilal, A
Kadiri, C. Dupuis, S. Nivot, S. Rose, A. Rothenbuhler,
L. Sobrier, M.-P. Vie-Luton, Y. Le Bouc, M. Polak, J. Le
S. Amselem.
1099T Nonclassic thyrotropin resistance:
TSHR
mutation carriers with discrepantly high thyroidal
iodine uptake.
S. Narumi, K. Nagasaki, T. Ishii, K.
Muroya, Y. Asakura, M. Adachi, T. Hasegawa.
1100T Whole exome sequencing in
SCN1A
-negative
Dravet syndrome reveals novel candidate genes and
suggests genetic heterogeneity.
G. L. Carvill, S. C.
Yendle, J. McMahon, J. Cook, S. F. Berkovic, I. E.
Scheffer, H. C. Mefford.
1101T Refinement of the benign familial infantile
seizures chromosome 16 epilepsy locus in a large
Utah family.
N. Singh, R. Mao, E. Lyon, S. Shetty, M.
Dixon, M. Leppert, F. Filloux.
1102T Exclusion of known lymphedema genes in tw
families with severe congenital lymphedema.
M.
Amyere, S. Greenberger, D. Chitayat, E. Pras, K. Chong
Uster, H. Reznik-Wolf, D. Marek-Yagel, L. Boon, M.
Vikkula.
1103T Genetic linkage analysis to identify susceptibi
loci for primary biliary cirrhosis in British Columbia’s
First Nations peoples.
S. Asuri, S. McIntosh, L. Fields,
Arbour.