Page 247 - 30917_ASHG_Complete

This is a SEO version of 30917_ASHG_Complete. Click here to view full version

« Previous Page Table of Contents Next Page »
1151T Deficiency of adaptor protein complex 4 causes
autosomal recessive intellectual disability with absent
speech, shy character, progressive spastic paraplegia
and short stature.
L. Colleaux, O. Philippe, A. Raas-
Rothschild, S. Eck, E. Graf, R. Buchert, G. Borck, A. Ekici,
F. F. Brockschmidt, M. M. Nöthen, A. Munnich, T. M.
Strom, A. Reis, R. Abou Jamra.
1152T Mutation in
STXBP5L
in a novel
neurodegenerative disorder with severe axonal
peripheral neuropathy, neurogenic muscular atrophy
and optic atrophy.
M. Corbett, R. Sharma, K. Smith, A.
Hoischen, J. Veltman, M. Bahlo, E. Haan, J. Gecz.
1153T BLOC-1 mutation screening in Hermansky-
Pudlak syndrome reveals a new HPS subtype, HPS-9,
associated with mutations in PLDN (pallidin) and a
novel BLOS3 (HPS-8) mutation.
A. R. Cullinane, J. A.
Curry, C. Carmona-Rivera, G. Golas, C. G. Summers, C.
Ciccone, N. D. Cardillo, H. Dorward, R. A. Hess, J. G.
White, D. Adams, M. Huizing, W. A. Gahl.
1154T Mutations in
MEGF11
cause juvenile open angle
glaucoma.
B. J. Fan, D. Y. Wang, X. Chen, K. Linkroum,
E. A. DelBono, J. L. Haines, J. L. Wiggs.
1155T Genetic heterogeneity in the brittle cornea
syndrome: New evidence that
ZNF469
and
PRDM5
regulate extracellular matrix development and
maintenance within the same pathway.
C. Giunta, F.
Manson, E. M. M. Burkitt Wright, H. L. Spencer, N. Zoppi,
A. R. Janecke, C. Bürer-Chambaz, H. Al-Hussain, M.
Wilson, M. Bakshi, D. Sillence, M. Colombi, B. Steinmann,
M. Rohrbach, G. C. M. Black.
1156T Comparative study of mutation spectra in
North-West Russia familial hypercholesterolemia: St.
Petersburg versus Petrozavodsk.
A. S. Golovina, T. Y.
Komarova.
1157T Adams-Oliver syndrome, identification of a
putative causal gene using exome sequencing.
S. J.
Hassed, G. B. Wiley, S. Wang, J. Y. Lee, S. LI, Y. Xu, Z. J.
Zhao, J. J. Mulvihill, J. Robertson, P. M. Gaffney.
1158T Novel X-linked disorder identifies the phenotype
of a germline mutation in PIGA: The gene somatically
mutated in paroxysmal nocturnal hemoglobinuria.
J. J.
Johnston, A. L. Gropman, J. Martin, J. C. Sapp, J. K. Teer,
R. A. Brodsky, L. G. Biesecker, NIH Intramural Sequencing
Center.
Cancer Genetics
1159T Insulin-like growth factor-1 polymorphism and
cancer risk: A systematic review and meta-analysis.
M.
S. Haerian, B. S. Haerian.
Thursday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
1160T Detection of high levels of urinary apoptotic
nucleic acids and promoter hyper-methylation of
multiple tumor suppressor genes in prostate cancer.
Haj-Ahmad, M. Abdalla, Y. Haj-Ahmad.
1161T Genetic study of Tunisian familial hematologi
malignancies.
W. S. Hamadou, R. Elabed, Y. Ben Yous
A. Khelif, H. Sobol, Z. Soua.
1162T Extending the benign and malignant phenoty
associated with germline
DICER1
mutations.
N. Ham
M. Tischkowitz, A. Bahubeshi, B. Pasini, S. Asioli, G.
Baynam, A. Overkov, R. P. Frieder, M. Dishop, N. Graf,
Ekim, D. Bouron-Dal Soglio, J. Arseneau, R. H. Young,
Sabbaghian, A. Srivastava, J. R. Priest, W. D. Foulkes.
1163T Direct detection and enumeration of circulati
tumor cells by castPCR analysis of digitally enriche
samples.
T. Hartshorne, D. Deng, S. Sproul, Y. Bao, Y.
Fawn, D. Merrill, P. Brzoska, C. Chen.
1164T Investigating the function of
microseminoprotein-beta in prostate cancer.
J. E.
Hayes, X. Xu, H. Lilja, R. J. Klein.
1165T Whole-exome sequencing of a rare case of
familial childhood acute lymphoblastic leukemia.
J.
Healy, V. Saillour, M. Bourgey, A. Alter, M. Larivière, J. F.
Spinella, C. Richer, S. Busche, B. Ge, A. Montpetit, P.
Awadalla, T. Pastinen, D. Sinnett.
1166T Lobular endocervical glandular hyperplasia
found in a Peutz-Jeghers syndrome patient positive
STK11 mutation.
A. Hirasawa, T. Akahane, T. Tsuruta,
Banno, N. Susumu, K. Sugano, D. Aoki.
1167T Differential methylation in pancreatic cancer
and the associated effects on gene expression.
J.
Hoskins, J. Jinping, H. Parikh, I. Collins, S. Hussain, L.
Amundadottir.
1168T CNVs and CN-LOH in MDS and AML: A study
140 cases.
X. Hu, A. Iqbal, A. Ahmd, G. Raca, X. Xu, D
WolFF, R. Burack, B. Kipphut, D. Mulford, M. Li.
1169T Combined analysis with copy number variatio
identifies hotspot-located risk loci in lung cancer.
L.
Hu, X. Chen, X. Li, Y. Liu, Z. Zhang, P. Wang, X. Yi, J.
Zhang, Y. Zhu, Z. Wei, F. Yuan, X. Kong.
1170T Genetic variants in sex hormone metabolic
pathway genes and risk of esophageal squamous c
carcinoma.
P. L. Hyland, N. Hu, W. Wheeler, K. Yu, T.
Ding, J.-H. Fan, S. M. Dawsey, C. C. Abnet, A. M.
Goldstein, Z.-Z. Tang, Y.-L. Qiao, N. D. Freedman, P. R.
Taylor.