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1328T KIR/HLA gene variants in patients with Gaucher
disease in Southern Brazil.
F. Vairo, P. Portela, P. Salim,
T. Alegra, C. Netto, M. L. Saraiva-Pereira, M. Jobim, L. F.
Jobim, I. V. Schwartz.
1329T Diagnostic testing for MPS VI (Maroteaux-Lamy
syndrome): Laboratory survey results and
recommendations from the MPS VI diagnostic summit.
T. Wood, O. Bodamer, M. G. Burin, V. D'Almeida, C. Eng,
M. Fietz, R. Giugliani, C. Hendriksz, P. Hwu, D. Ketteridge,
Z. Lukacs, N. J. Mendelsohn, M. Pasquali, A. Schenone,
K. Schoonderwoerd, B. Winchester, P. Harmatz.
1330T The spectrum of mitochondrial DNA mutations
in Iranian LHON patients.
M. Houshmand, Z. Rezvani, E.
Didari, A. Arasteh, V. Ghodsinejad.
1331T Widely targeted metabolomics for diagnosing
inborn errors of metabolism.
T. Adam, H.
Krätschmerova, K. Hron, P. Wojtowicz, A. Baresova, E.
Hlidkova, P. Hornik, D. Behulova, D. Prochazkova, H.
Vinohradska, K. Peskova, K. Adamová, S. Stastna, D.
1332T Metabolite pattern on in vivo 1H-magnetic
resonance spectroscopy of the brain in children with
metabolic diseases.
W. Al-Hertani, E. Mason, T. Tam, B.
Schmitt, S. Blaser, H. Branson, A. Schulze.
1333T Diagnostic program for the detection of
Niemann-Pick C disease in Brazil (NPC Brazil
F. Timm, H. Bock, S. G. R. Santos, S. S. Mello,
A. Brites, M. G. Burin, M. L. Saraiva-Pereira, R. Giugliani.
1334T Proteomic analysis of induced pluripotent stem
cells as a mechanism to study non-alcoholic fatty liver
S. Brown-Ford, A. DeLaForest, M. Cayo, M.
Pellitteri-Hahn, M. Zelembaba, B. Halligan, S. Duncan, M.
1335T Expression of anti-lipolytic receptors in human
adipose tissues and metabolic associations.
Chamas, M. Neville, F. Karpe.
1336T Does the CPT1A p.P479L variant confer risk for
unexpected infant death in Nunavut, NWT and Yukon?
S. Collins, G. Sinclair, G. Osborne, A. Corriveau, M.
Santos, B. Hanley, F. Bamforth, C. Greenberg, H. Vallance,
L. Arbour.
1337T Maternal hyperhomocysteinemia lead to
methionine cycle alteration of adult offspring.
D'Almeida, V. C. Silva, E. J. Haseyama, M. T. C. Muniz.
1338T Erythropoietic protoporphyrias: Frequency of
mutations in the ferrochelatase gene causing
autosomal recessive erythropoietic protoporphyria and
mutations in the 5’-aminolevulinate synthase 2 gene
causing X-linked protoporphyria.
D. Doheny, I.
Nazarenko, M. Balwani, L. Liu, H. Naik, K. Anderson, D.
M. Bissell, J. Bloomer, H. Bonkovsky, J. Kushner, J.
Phillips, D. Bishop, R. J. Desnick, Porphyrias Consortium
of Rare Diseases Clinical Research Network.
Thursday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
Ethical, Legal, Social and Policy
Issues in Genetics
1339T Professional and family attitudes regarding
large scale genetic information generated through
next-generation sequencing in research.
A. Cambon-
Thomsen, A. Soulier, G. Bertier, S. Leonard, S. Julia,
GEUVADIS Consortium.
1340T The globalization of reprogenetic services: A
thematic analysis of the current state of knowledge.
Couture, C. Bouffard.
1341T Managing incidental findings from genomic
testing: A public perspective.
S. Daack-Hirsch, A. Sp
J. K. Williams, M. Driessnack, C. Siomon.
1342T The appropriate regulation of genetic
discrimination at European level: What can we learn
from international legislative efforts?
A. de Paor.
1343T Carte blanche ou carte rouge? Willingness of
U.S. adults to give broad and limited consent for
genetic research.
R. Dvoskin, J. Murphy Bollinger, J.
Scott, D. Kaufman.
1344T Internatonal legislative and factors of influenc
on preimplantation genetic diagnosis.
L. J. Escobar,
Jimenez, E. Quesada, L. Hernandez, M. Jimenez.
1345T Public attitudes and interest in newborn gene
H. Etchegary, E. Dicks, J. Green, K. Hodgkinso
D. Pullman, P. Parfrey.
1346T Uses of ancestry in structured association
mapping: A critical analysis of recent literature.
S. M
Fullerton, J. Yu, K. A. Edwards, J. S. Taylor, K. L.
1347T The presentation of risk information by perso
genotyping services.
S. T. K. Garcia, S. S. Lee, M. K.
1348T The ethical and scientific challenges of
representativeness in nutrigenetics clinical research
B. Godard, T. Hurlimann, R. Stenne, Omics-Ethics
Research Group.
1349T The Kaiser Permanente Research Program o
Genes, Environment, and Health: Re-consent for
sharing data through dbGaP and predictors of
J. N. Harris, S. Rowell, A. Altschuler, M. Sadl
M. Henderson, P. Liljestrand, D. Olberg, N. Risch, C.
Schaefer, C. Somkin.
1350T Does a duty of disclosure foster special
treatment of genetic research participants?
R. Z.
Hayeems, F. A. Miller, J. P. Bytautas, L. Li.
1351T Duty to warn: A case report.
K. Hodgkinson, R
Singleton, F. Curtis, D. Pullman.