Rare structural variation of synapse and neurotransmission genes in autism von Gai, X, Xie, H M, Perin, J C, Takahashi, N, Murphy, K, Wenocur, A S, D'arcy, M, O'Hara, R J, Goldmuntz, E, Grice, D E, Shaikh, T H, Hakonarson, H, Buxbaum, J D, Elia, J, White, P S

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GATA4 sequence variants in patients with congenital heart disease von Tomita-Mitchell, A, Maslen, C L, Morris, C D, Garg, V, Goldmuntz, E

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Loss-of-Function Mutations in Growth Differentiation Factor-1 ( GDF1) Are Associated with Congenital Heart Defects in Humans von Karkera, J.D., Lee, J.S., Roessler, E., Banerjee-Basu, S., Ouspenskaia, M.V., Mez, J., Goldmuntz, E., Bowers, P., Towbin, J., Belmont, J.W., Baxevanis, A.D., Schier, A.F., Muenke, M.

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1207 Update on Progress of the Mesenchymal Stromal Cell Trial in Refractory Lupus von Kamen, D, Lim, SS, Ramsey-Goldman, R, Kalunian, K, Mackay, M, Khosroshahi, A, Sheikh, S, Shah, U, Goldmuntz, E, Welch, B, Ishimori, M, Arriens, C, Nietert, P, Sirline, L, Martin, R, Gilkeson, G

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Myeloablative Autologous Stem-Cell Transplantation for Severe Scleroderma von Sullivan, Keith M, Goldmuntz, Ellen A, Keyes-Elstein, Lynette, McSweeney, Peter A, Pinckney, Ashley, Welch, Beverly, Mayes, Maureen D, Nash, Richard A, Crofford, Leslie J, Eggleston, Barry, Castina, Sharon, Griffith, Linda M, Goldstein, Julia S, Wallace, Dennis, Craciunescu, Oana, Khanna, Dinesh, Folz, Rodney J, Goldin, Jonathan, St. Clair, E. William, Seibold, James R, Phillips, Kristine, Mineishi, Shin, Simms, Robert W, Ballen, Karen, Wener, Mark H, Georges, George E, Heimfeld, Shelly, Hosing, Chitra, Forman, Stephen, Kafaja, Suzanne, Silver, Richard M, Griffing, Leroy, Storek, Jan, LeClercq, Sharon, Brasington, Richard, Csuka, Mary E, Bredeson, Christopher, Keever-Taylor, Carolyn, Domsic, Robyn T, Kahaleh, M. Bashar, Medsger, Thomas, Furst, Daniel E

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Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects von Gong, Weilong, Gottlieb, Shoshanna, Collins, Joelle, Blescia, Adam, Dietz, Harry, Goldmuntz, Elizabeth, McDonald-McGinn, Donna M, Zackai, Elaine H, Emanuel, Beverly S, Driscoll, Deborah A, Budarf, Marcia L

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Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study von Lambrechts, D, Devriendt, K, Driscoll, D A, Goldmuntz, E, Gewillig, M, Vlietinck, R, Collen, D, Carmeliet, P

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Serum Alkaline Phosphatase Reflects Post-Fontan Hemodynamics in Children von Chin, Alvin J., Stephens, P., Goldmuntz, E., Leonard, M. B.

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Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management von Bushby, Katharine, MD, Finkel, Richard, MD, Birnkrant, David J, MD, Case, Laura E, DPT, Clemens, Paula R, MD, Cripe, Linda, MD, Kaul, Ajay, MD, Kinnett, Kathi, MSN, McDonald, Craig, MD, Pandya, Shree, PT, Poysky, James, PhD, Shapiro, Frederic, MD, Tomezsko, Jean, PhD, Constantin, Carolyn, PhD

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Cardiovascular Anomalies in Patients Diagnosed With a Chromosome 22q11 Deletion Beyond 6 Months of Age von McElhinney, Doff B, McDonald-McGinn, Donna, Zackai, Elaine H, Goldmuntz, Elizabeth

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Chromosome 22q11 deletion in patients with truncus arteriosus von McElhinney, D B, Driscoll, D A, Emanuel, B S, Goldmuntz, E

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Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects von Goldmuntz, E, Driscoll, D, Budarf, M L, Zackai, E H, McDonald-McGinn, D M, Biegel, J A, Emanuel, B S

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NKX2.5 mutations in patients with congenital heart disease von MCELHINNEY, Doff B, GEIGER, Elizabeth, BLINDER, Joshua, BENSON, D. Woodrow, GOLDMUNTZ, Elizabeth

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Local secretion of corticotropin-releasing hormone in the joints of Lewis rats with inflammatory arthritis von CROFFORD, L. J, SANO, H, KARALIS, K, WEBSTER, E. L, GOLDMUNTZ, E. A, CHROUSOS, G. P, WILDER, R. L

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NKX2.5 mutations in patients with tetralogy of Fallot von GOLDMUNTZ, Elizabeth, GEIGER, Elizabeth, BENSON, D. Woodrow

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Patterns of right aortic arch and mirror-image branching of the brachiocephalic vessels without associated anomalies von McElhinney, D B, Hoydu, A K, Gaynor, J W, Spray, T L, Goldmuntz, E, Weinberg, P M

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Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome von MCELHINNEY, Doff B, KRANTZ, Ian D, BASON, Lynn, PICCOLI, David A, EMERICK, Karan M, SPINNER, Nancy B, GOLDMUNTZ, Elizabeth

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CFC1 Mutations in Patients with Transposition of the Great Arteries and Double-Outlet Right Ventricle von Goldmuntz, Elizabeth, Bamford, Richard, Karkera, Jayaprakash D., dela Cruz, June, Roessler, Erich, Muenke, Maximilian

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Features of alagille syndrome in 92 patients: Frequency and relation to prognosis von Emerick, Karan M., Rand, Elizabeth B., Goldmuntz, Elizabeth, Krantz, Ian D., Spinner, Nancy B., Piccoli, David A.

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Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal Defects von Robinson, Susan W., Morris, Cynthia D., Goldmuntz, Elizabeth, Reller, Mark D., Jones, Melanie A., Steiner, Robert D., Maslen, Cheryl L.

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