Distinct phenotypes distinguish the molecular classes of Angelman syndrome von Lossie, A C, Whitney, M M, Amidon, D, Dong, H J, Chen, P, Theriaque, D, Hutson, A, Nicholls, R D, Zori, R T, Williams, C A, Driscoll, D J

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Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet von Dagli, A. I., Zori, R. T., McCune, H., Ivsic, T., Maisenbacher, M. K., Weinstein, D. A.

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Blood lymphocyte chimerism associated with IVF and monochorionic dizygous twinning: Case report von Williams, C.A., Wallace, M.R., Drury, K.C., Kipersztok, S., Edwards, R.K., Williams, R.S., Haller, M.J., Schatz, D.A., Silverstein, J.H., Gray, B.A., Zori, R.T.

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Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders von Mokhtarani, M., Diaz, G.A., Rhead, W., Lichter-Konecki, U., Bartley, J., Feigenbaum, A., Longo, N., Berquist, W., Berry, S.A., Gallagher, R., Bartholomew, D., Harding, C.O., Korson, M.S., McCandless, S.E., Smith, W., Vockley, J., Bart, S., Kronn, D., Zori, R., Cederbaum, S., Dorrani, N., Merritt, J.L., Sreenath-Nagamani, Sandesh, Summar, M., LeMons, C., Dickinson, K., Coakley, D.F., Moors, T.L., Lee, B., Scharschmidt, B.F.

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A New Case of Pure Partial 7q Duplication von Alfonsi, M., Palka, C., Morizio, E., Gatta, V., Franchi, S., Guanciali Franchi, P., Zori, R., Calabrese, G., Palka, G., Chiarelli, F.

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PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome von Marsh, Debbie J., Kum, Jennifer B., Lunetta, Kathryn L., Bennett, Michael J., Gorlin, Robert J., Ahmed, S. Faisal, Bodurtha, Joann, Crowe, Carol, Curtis, Mary A., Dasouki, Majed, Dunn, Teresa, Feit, Howard, Geraghty, Michael T., Graham, John M., Hodgson, Shirley V., Hunter, Alasdair, Korf, Bruce R., Manchester, David, Miesfeldt, Susan, Murday, Victoria A., Nathanson, Katherine L., Parisi, Melissa, Pober, Barbara, Romano, Corrado, Tolmie, John L., Trembath, Richard, Winter, Robin M., Zackai, Elaine H., Zori, Roberto T., Weng, Liang-Ping, Dahia, Patricia L. M., Eng, Charis

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High cognitive functioning and behavioral phenotype in Pallister‐Killian syndrome von Stalker, Heather J., Gray, B.A., Bent‐Williams, A., Zori, R.T.

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Unexpected death and critical illness in Prader-Willi syndrome: Report of ten individuals von Stevenson, David A., Anaya, Theresa M., Clayton-Smith, Jill, Hall, Bryan D., Van Allen, Margot I., Zori, Roberto T., Zackai, Elaine H., Frank, Gary, Clericuzio, Carol L.

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A family with a grand-maternally derived interstitial duplication of proximal 15q von Boyar, FZ, Whitney, MM, Lossie, AC, Gray, BA, Keller, KL, Stalker, HJ, Zori, RT, Geffken, G, Mutch, J, Edge, PJ, Voeller, KS, Williams, CA, Driscoll, DJ

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Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba Syndrome von Zori, Roberto T., Marsh, Debbie J., Graham, Gail E., Marliss, Errol B., Eng, Charis

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A DNA methylation imprint, determined by the sex of the parent, distinguishes the angelman and Prader-Willi syndromes von Driscoll, Daniel J., Waters, Michael F., Williams, Charles A., Zori, Roberto T., Glenn, Christopher C., Avidano, Karen M., Nicholls, Robert D.

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Linkage Analysis Narrows the Critical Region for Oculodentodigital Dysplasia to Chromosome 6q22–q23 von Boyadjiev, Simeon A, Jabs, Ethylin Wang, LaBuda, Michele, Jamal, Joseph E, Torbergsen, Torberg, Ptáček, Louis J, Rogers, R.Curtis, Nyberg-Hansen, Rolf, Opjordsmoen, Stein, Zeller, Cynthia B, Stine, O.Colin, Stalker, Heather J, Zori, Roberto T, Shapiro, Robert E

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A non-sex chromosome marker in a patient with an atypical Ullrich-Turner phenotype and mosaicism of 46,X,mar/46,XX von Gray, BA, Bent-Williams, A, Wolff, DJ, Zori, RT

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Lack of X inactivation associated with maternal X isodisomy : Evidence for a counting mechanism prior to X inactivation during human embryogenesis von MIGEON, B. R, JEPPESEN, P, TORCHIA, B. S, SIDONG FU, DUNN, M. A, AXELMAN, J, SCHMECKPEPER, B. J, FANTES, J, ZORI, R. T, DRISCOLL, D. J

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EE656 Challenges in Health-Economic Modeling of Phenylketonuria (PKU): A Targeted Review of HTA Evaluations von Chakrapani, A, Hamazaki, T, Lah, M, Muntau, AC, Ruebel, DJ, Vijay, S, Zori, RT, Feillet, F, OConnell, T, Teng, Y, Woolley, JJ, Crowell, M, Zhang, R, Tomazos, I

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EE316 An Iterative Survey of Phenylketonuria (PKU) Medical Experts to Inform Health Economic Modeling Methods von Zhang, R, Chakrapani, A, Hamazaki, T, Lah, M, Muntau, AC, Ruebel, DJ, Vijay, S, Zori, RT, Feillet, F, OConnell, T, Woolley, JJ, Crowell, M, Teng, Y, Tomazos, I

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Variable expression of rib, pectus, and scapular anomalies with Robin-type cleft palate in a 5-generation family: A new syndrome? von Stalker, Heather J., Zori, Roberto T.

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A first generation cytogenetic ideogram for the Florida manatee (Trichechus manatus latirostris) based on multiple chromosome banding techniques von GRAY, BRIAN A., ZORI, ROBERT T., MCGUIRE, PETER M., BONDE, ROBERT K.

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Genetic insights into familial cancers – update and recent discoveries von Marsh, Deborah J, Zori, Roberto T

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Angelman Syndrome: Clinical Profile von Zori, Roberto T., Hendrickson, Jill, Woolven, Sheila, Whidden, Elaine M., Gray, Brian, Williams, Charles A.

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