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1104T Linkage and homozygosity mapping identifies a
14 bp deletion in
in families with
microphthalmia and brain atrophy.
K. K. Selmer, G. D.
Gilfillan, P. Strømme, O. J. Kanavin, T. Hughes, K. Brandal,
R. Lyle, D. E. Undlien.
1105T Role of Fragile X related proteins in mammalian
circadian behaviors and glucose homeostasis.
Lumaban, D. Nelson.
1106T Evaluation of a PCR-based assay using sizing
PCR in combination with CGG repeat primed PCR for
FMR1 screening in a clinical setting.
K. Storm, N.
Peeters, W. Wuyts, F. Kooy.
1107T Functional characterization of novel variants in
Noonan syndrome.
J. J. Lee, B. H. Lee, J. M. Kim, G. H.
Kim, J. H. Choi, H. W. Yoo.
1108T Congenital diarrheal disorders: Translating
whole exome sequencing to the clinic.
M. Yourshaw, D.
Liu, S. F. Nelson, M. Martín.
1109T Demonstration of the interactions of genes and
environment in determining the phenotype of a genetic
disease using a mouse model of a fatty acid oxidation
W. Wang, A.-W. Mohsen, J. Palmfeldt, M.
Barmada, Y. Wang, N. Gregersen, J. Vockley.
1110T Identification of a novel gene for autosomal
dominant high-grade myopia using whole exome
T. Young, A. Powell, T. Klemm, S. Rozen, V.
Soler, T. Yanovitch, E. Nading, F. Hawthorne, L. Goh, K.-N.
Tran Viet.
1111T Interferon gamma impact on epidermolysis
bullosa simplex in patients with keratin 14 mutations.
T. Farez, M. Bchetnia, M. Tremblay, G. Leclerc, A.
Dupérée, J. Powell, C. McCuaig, C. Morin, V. Legendre-
Guillemin, C. Laprise.
1112T Potential therapeutic target of 185delAG,
5382insC, as two types of mutations in BRCA1, in
breast cancer.
H. Fiuji, A. Avan, M. Maftouh, R. Mirhafez,
A. Avan.
1113T Deletion of PORCN in mice confirms that
defective WNT signaling causes the features of human
Goltz syndrome (focal dermal hypoplasia).
W. Liu, T.
Shave, X. Wang, A. Balasa, S. Wen, H. Nguyen, I. Van den
1114T Increased oxidative stress in Nijmegen
breakage syndrome results from PARP hyperactivation
after DNA damage.
M. Digweed, H. Krenzlin, I. Demuth,
B. Salewsky.
1115T Dominant mutations in RP1L1 are responsible
for occult macular dystrophy (Miyake's disease).
Iwata, M. Akahori, K. Tsunoda, Y. Miyake, Y. Fukuda, H.
Ishiura, S. Tsuji, T. Usui, T. Hatase, M. Nakamura, H.
Thursday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
1116T Exome sequencing in patients with deafness,
onycho-osteodystrophy, and mental retardation
D. Kasperaviciute, A. Tostevin, V. Plagnol, S
Mead, S. Nampoothiri, E. Blair, H. Cross, R. C. M.
Hennekam, S. M. Sisodiya.
1117T Mapping of a lethal disorder with pulmonary
hypertension and limb deficiency.
D. C. Lynch, K. M.
Boycott, D. E. Bulman, J. S. Parboosingh, A. M. Innes.
1118T Whole exome sequencing in a consanguineou
pedigree reveals 2 novel RYR1 mutations in patients
with complete external ophthalmoplegia.
S. Shaaban
C. Andrews, J. Demer, E. Engle.
1119T PKD1 and PKD2 gene variation in Italian
patients affected by autosomal dominant polycystic
kidney disease.
P. Carrera, F. Rigo, S. Calzavara, C.
Montrasio, P. Messa, A. Edefonti, R. Magistroni, F. Scol
P. Manunta, A. Boletta, M. Ferrari.
1120T A novel nucleotide change in the intron 12 of
the SPAST gene might produce an aberrant protein
A. Magariello, M. Liguori, A. Patitucci, L.
Citrigno, R. Mazzei, FL. Conforti, C. Ungaro, W. Sprovie
D. Bosco, M. Plastino, A. Gambardella, M. Muglia.
1121T Assay design for detection of the SMN1 "2+0
genotype in carriers of spinal muscular atrophy.
Pont-Kingdon, A. Wilson, E. Lyon.
1122T Molecular analysis of
responsible for th
Mowat-Wilson syndrome.
Y. Yamada, K. Yamada, S.
Mizuno, E. Nishi, N. Ishihara, N. Akimura, K. Matsuda,
Okamoto, Y. Hiraki, N. Wakamatsu.
1123T Genetic profile for patients with familial
hemophagocytic lymphohistiocytosis type 5.
K. Zhan
J. A. Johnson, D. Kissel, U. Zur Stadt, A. H. Filipovich.
1124T Comprehensive analysis of novel disease-
causing copy number variants in syndromic obesity.
S. D'Angelo, C. P. Koiffmann.
1125T New gene variants in idiopathic scoliosis.
K. F
Fendri, S. A. P. Patten, P. E. Edery, F. M. Moldovan.
1126T Identification of novel genes for frontotempor
lobar degeneration using whole genome sequencing
Gijselinck, S. Philtjens, T. Van Langenhove, S.
Engelborghs, J. van der Zee, R. Van Den Berghe, P.
Santens, G. Maes, K. Peeters, M. Mattheijssens, P. P. D
Deyn, C. Van Broeckhoven, M. Cruts.
1127T Whole-genome sequencing to identify diseas
causing mutations in hereditary sensory and
autonomic neuropathy.
C. Gonzaga-Jauregui, W.
Wiszniewski, J. Reid, I. Kurth, R. A. Gibbs, J. R. Lupski.
1128T High-throughput sequencing for causal gene
discovery in Mendelian diseases.
S. N. Jhangiani, M.
Bainbridge, D. R. Murdock, F. J. Probst, J. L. Jeffries, I.
Newsham, Y. Q. Wu, M. Wang, D. M. Muzny, R. A. Gib