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1403T Candidate gene variants and susceptibility to
infection by hepatitis A and E viruses in the U.S.
population: Analysis using the Third National Health
and Nutrition Examination Survey (NHANES III), 1991-
L. Zhang, M. H. Chang, D. J. Hu, E. Teshale, N. F.
Dowling, C. G. Teo.
1404T Evaluation of cystine in urine samples for a
diagnostic approach in Colombian cystinuria.
Buitrago Alvarado, J. Benavides Sanchez, A. Uribe Ardila.
1405T Newborn screening education: What information
is important to expecting mothers?
S. M. Craigie, B. K.
Potter, B. J. Wilson, J. Allanson, D. Avard, M. Cappelli, J.
C. Carroll, D. Castle, P. Chakraborty, H. Etchegary, J.
Grimshaw, L. Lemyre, J. Little, J. Milburn, F. A. Miller, K.
Morin, G. Wells.
1406T Haptoglobin phenotypes in Saudi Arabia.
1407T Access to genetic health care: Qualitative study
of new universal screening for sickle cell and
thalassaemia disorders in England.
J. Kai, F. Ulph, T.
Cullinan, N. Qureshi.
1408T Familial breast cancer: Risk communication,
predictive testing and management in four European
I. Nippert, H. Harris, C. Julian-Reynier, J.
Schmidtke, C. van Asperen, A. Tibben, D. G. Evans.
1409T Developing and validating clinical genetics-
specific patient reported outcome measures: Are we
finally at the end of a long and winding road?
McAllister, A. M. Wood, G. Dunn, K. Payne, L. Davies, S.
Shiloh, C. Todd.
1410T Impact of family history information on
accuracy of cardiovascular disease prediction in
middle aged women.
Q. Hasanaj, BJ. Wilson, J. Little, Z.
Montazeri, G. J. Prescott on behalf of CIHR Emerging
Team in Genomics in Screening.
1411T Weighted metrics for assessing quality of
regional public health and clinical genetics services.
Mulvihill, S. Whitehead, A. Chou, Genetics Systems
Assessment Working Group.
1412T Predictive genetic tests of alcohol intolerance
for moderate and responsible drinking: Actions for
reducing harmful drinking.
Y. Ohta, S. Suzuki, F. Kato,
M. Sami, T. Kanda, I. Kobayashi.
1413T Medical genetics in Southeast Asia: Status and
current drivers.
J. K. Thompson, M. Laurino, D. L.
Sternen, K. Leppig.
1414T Cystic fibrosis carrier screening: Customer
satisfaction study.
L. Ditta, S. Egiziano, C. Salbe, M.
Mattiuzzo, L. Tognetto, A. Brugnoli, G. Romagnosi, M.
Gion, L. Bartoloni.
Thursday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
1415T Recognizing health care needs of orofacial cl
individuals during genetics evaluation in Alagoas,
M. I. B. Fontes, K. M. Santos, J. I. Vieira Filho,
K. M. Andrade, F. S. Anjos, T. P. Vieira, I. C. Sgardioli,
L. V. Campos, I. L. Monlleó, V. L. Gil-da-Silva-Lopes.
Developmental Biology
1416T Novel mouse models for hearing loss
associated with proximal 1p36 deletions.
H. Zaveri,
J. Kim, O. A. Shchelochkov, F. A. Pereira, A. K. Groves,
S. Oghalai, M. Justice, B. Lee, D. A. Scott.
1417T Alternative polyadenylation: Gene mechanism
avoid miRNA regulation.
C. Barbacioru, F. Tang, E.
Nordman, E. Heard, K. Lao, A. Surani.
1418T Understanding the anomalies in the
development of the skull and craniovertebral junctio
in achondroplasia.
F. Di Rocco, N. Kaci, E. Mugniery,
Benoist-Lasselin, N. Litim, A. Munnich, L. Legeai-Mallet
1419T Loss of prolyl-3-hydroxylation at position 986
type I collagen in transgenic mice has a negative
effect on bone mass and structure.
I. Grafe, D.
Baldridge, E. Homan, T. Bertin, Y. Chen, M.-A. Weis, D.
Napierala, T. Yang, B. Dawson, C. Lietman, E. Munivez,
Chen, M. Grover, M.-M. Jiang, D. Eyre, B. Lee.
1420T Consequences of gain-of-function mutations
ALK on central nervous system development.
Gordon, L. de Pontual, D. Kettaneh, M. Oufadem, N.
Boddaert, M. Lees, J. Mollet, A. Munnich, L. Brugière,
Delattre, M. Vekemans, S. Lyonnet, I. Janoueix-Lerosey,
1421T The nuclear receptor co-regulator, RERE
regulates the development of the cerebellum.
B. Kim
H. Zaveri, Z. Yu, O. A. Shchelochkov, M. Justice, B. Le
D. A. Scott.
1422T Intellectual disability-associated synaptic
protein KIRREL3 interacts with MAP1B and Myr8.
Liu, S. M. Sowell, Y. Luo, A. K. Srivastava.
1423T Aristaless brain diseases: A class of patholog
associated with an altered GABAergic homeostasis?
Poeta, D. Drongitis, F. Fusco, M. Paciolla, S. Filosa, P.
Collombat, M. B. Lioi, M. V. Ursini, M. G. Miano.
1424T Candidate gene effects on human craniofacia
variation in males and females.
S. F. Miller, D. Defay,
Weinberg, C. Kummet, J. C. Murray, M. L. Marazita, G.
Wehby, L. M. Moreno.
1425T The ciliary kinase
is required for
Polycystin2-mediated signaling.
D. R. Beier, D. K.
Manning, R. G. H. P. van Heesbeen, M. Sergeev, I. A.
Drummond, J. V. Shah.