Search Results - "Goldmuntz, E."

Rare structural variation of synapse and neurotransmission genes in autism by 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

“…Autism spectrum disorders (ASDs) comprise a constellation of highly heritable neuropsychiatric disorders. Genome-wide studies of autistic individuals have…”
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GATA4 sequence variants in patients with congenital heart disease by Tomita-Mitchell, A, Maslen, C L, Morris, C D, Garg, V, Goldmuntz, E

“…Background:Recent reports have identified mutations in the transcription factor GATA4 in familial cases of cardiac septal defects. The prevalence of GATA4…”
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Loss-of-Function Mutations in Growth Differentiation Factor-1 ( GDF1) Are Associated with Congenital Heart Defects in Humans by 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.

“…Congenital heart defects (CHDs) are among the most common birth defects in humans (incidence 8–10 per 1,000 live births). Although their etiology is often…”
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1207 Update on Progress of the Mesenchymal Stromal Cell Trial in Refractory Lupus by 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

“…BodyThere is a growing interest and use of cellular therapies in almost all fields of medicine. Mesenchymal stromal cells (MSCs) are pluripotent in their…”
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Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study by Lambrechts, D, Devriendt, K, Driscoll, D A, Goldmuntz, E, Gewillig, M, Vlietinck, R, Collen, D, Carmeliet, P

“…Genotyping of 148 families with isolated, non-syndromic TOF revealed that the low-VEGF haplotype -2578A/-1154A/-634G (AAG) was overtransmitted to affected…”
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Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects by 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

“…In this study, only the exons and splice junctions ofTBX1 were screened. [...]mutations in the regulatory regions would be missed. [...]although TBX1 may be a…”
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Serum Alkaline Phosphatase Reflects Post-Fontan Hemodynamics in Children by Chin, Alvin J., Stephens, P., Goldmuntz, E., Leonard, M. B.

“…Although survivors of Fontan palliation for a single ventricle are known to have lower cardiac index than patients with two-ventricle surgical reconstructions,…”
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Chromosome 22q11 deletion in patients with truncus arteriosus by McElhinney, D B, Driscoll, D A, Emanuel, B S, Goldmuntz, E

“…The association between truncus arteriosus and chromosome 22q11 deletion is well recognized, but the frequency of a chromosome 22q11 deletion has not been…”
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Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects by Goldmuntz, E, Driscoll, D, Budarf, M L, Zackai, E H, McDonald-McGinn, D M, Biegel, J A, Emanuel, B S

“…Congenital conotruncal cardiac defects occur with increased frequency in patients with DiGeorge syndrome (DGS). Previous studies have shown that the majority…”
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The Philadelphia story: the 22q11.2 deletion: report on 250 patients by McDonald-McGinn, D M, Kirschner, R, Goldmuntz, E, Sullivan, K, Eicher, P, Gerdes, M, Moss, E, Solot, C, Wang, P, Jacobs, I, Handler, S, Knightly, C, Heher, K, Wilson, M, Ming, J E, Grace, K, Driscoll, D, Pasquariello, P, Randall, P, Larossa, D, Emanuel, B S, Zackai, E H

“…A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge, velocardiofacial, and conotruncal anomaly…”
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Cardiovascular Anomalies in Patients Diagnosed With a Chromosome 22q11 Deletion Beyond 6 Months of Age by McElhinney, Doff B, McDonald-McGinn, Donna, Zackai, Elaine H, Goldmuntz, Elizabeth

“…Cardiovascular anomalies are present in 75% to 80% of patients with a chromosome 22q11 deletion. In the majority of cases, the cardiovascular defect becomes…”
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Local secretion of corticotropin-releasing hormone in the joints of Lewis rats with inflammatory arthritis by CROFFORD, L. J, SANO, H, KARALIS, K, WEBSTER, E. L, GOLDMUNTZ, E. A, CHROUSOS, G. P, WILDER, R. L

“…Corticotropin-releasing hormone (CRH), the principal regulator of the hypothalamic-pituitary-adrenal axis, is also secreted in peripheral inflammatory sites,…”
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Patterns of right aortic arch and mirror-image branching of the brachiocephalic vessels without associated anomalies by McElhinney, D B, Hoydu, A K, Gaynor, J W, Spray, T L, Goldmuntz, E, Weinberg, P M

“…It is unusual to have a right aortic arch with mirror-image branching of the brachiocephalic vessels and no associated congenital cardiac anomalies…”
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DiGeorge syndrome: new insights by Goldmuntz, Elizabeth

“…Most patients with the clinical features of DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes share a common genetic cause, namely, a deletion…”
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Myeloablative Autologous Stem-Cell Transplantation for Severe Scleroderma by 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

“…Scleroderma is a life-threatening autoimmune disease in need of more effective treatment. A randomized trial of myeloablative therapy followed by autologous…”
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The effect of norepinephrine on endotoxin-mediated macrophage activation by Hu, X X, Goldmuntz, E A, Brosnan, C F

“…The effect of norepinephrine (NE) on the production of tumor necrosis factor (TNF) by rat spleen macrophages was determined. Following activation with…”
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NKX2.5 mutations in patients with congenital heart disease by MCELHINNEY, Doff B, GEIGER, Elizabeth, BLINDER, Joshua, BENSON, D. Woodrow, GOLDMUNTZ, Elizabeth

“…The purpose of this study was to estimate the frequency of NKX2.5 mutations in specific cardiovascular anomalies and investigate genotype-phenotype…”
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NKX2.5 mutations in patients with tetralogy of Fallot by GOLDMUNTZ, Elizabeth, GEIGER, Elizabeth, BENSON, D. Woodrow

“…Recent reports have implicated mutations in the transcription factor NKX2.5 as a cause of tetralogy of Fallot (TOF). To estimate the frequency of NKX2.5…”
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Detection of a 22q11.2 Deletion in Cardiac Patients Suggests a Risk for Velopharyngeal Incompetence by McDonald-McGinn, Donna M, Driscoll, Deborah A, Emanuel, Beverly S, Goldmuntz, Elizabeth, Clark III, Bernard J, Solot, Cynthia, Cohen, Marilyn, Schultz, Patricia, LaRossa, Donato, Randall, Peter, Zackai, Elaine H

“…Conotruncal cardiac anomalies frequently occur in patients with DiGeorge or velocardiofacial syndrome. Additionally, these patients may have overt or…”
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Cloning, Genomic Organization, and Chromosomal Localization of Human Citrate Transport Protein to the DiGeorge/Velocardiofacial Syndrome Minimal Critical Region by Goldmuntz, Elizabeth, Wang, Zhili, Roe, Bruce A., Budarf, Marcia L.

“…DiGeorge syndrome (DGS) and velocardiofacial syndrome have been shown to be associated with microdeletions of chromosomal region 22q11. More recently, patients…”
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