Search Results - "Simovich, Marcia"

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases by Van den Veyver, Ignatia B., Patel, Ankita, Shaw, Chad A., Pursley, Amber N., Kang, Sung-Hae L., Simovich, Marcia J., Ward, Patricia A., Darilek, Sandra, Johnson, Anthony, Neill, Sarah E., Bi, Weimin, White, Lisa D., Eng, Christine M., Lupski, James R., Cheung, Sau Wai, Beaudet, Arthur L.

“…Objective To evaluate the use of array comparative genomic hybridization (aCGH) for prenatal diagnosis, including assessment of variants of uncertain…”
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Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation by Simovich, Marcia J., Yatsenko, Svetlana A., Kang, Sung-Hae L., Cheung, Sau Wai, Dudek, Martha E., Pursley, Amber, Ward, Patricia A., Patel, Ankita, Lupski, James R.

“…Objectives Use high‐resolution genome analysis to clarify the genomic integrity in a fetus with a cytogenetically balanced translocation t(2;9)(q11.2;q34.3)…”
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The neuroprotective activities of melatonin against the Alzheimer β-protein are not mediated by melatonin membrane receptors by Pappolla, Miguel A., Simovich, Marcia J., Bryant-Thomas, Tara, Chyan, Yau-Jan, Poeggeler, Burkhard, Dubocovich, Margarita, Bick, Roger, Perry, George, Cruz-Sanchez, Felix, Smith, Mark A.

“…Exposure of neuronal cells to the Alzheimer's amyloid β protein (Aβ) results in extensive oxidative damage of bio‐molecules that are profoundly harmful to…”
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Delineation of the proximal 3q microdeletion syndrome by Simovich, Marcia J., Bland, Steven D., Peiffer, Daniel A., Gunderson, Kevin L., Cheung, Sau Wai, Yatsenko, Svetlana A., Shinawi, Marwan

“…Interstitial deletions of the proximal long arm of chromosome 3 are very rare and a defined clinical phenotype is not established yet. We report on the…”
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Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis by Simovich, Marcia J., Miller, Beverly, Ezzeldin, Hany, Kirkland, Bryan T., McLeod, Genevieve, Fulmer, Chere, Nathans, Jeremy, Jacobson, Samuel G., Pittler, Steven J.

“…Leber congenital amaurosis (LCArpar; is a heterogeneous disorder representing the congenital forms of retinitis pigmentosa accounting for about 5% of all…”
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Separate pathways for cellular uptake of ferric and ferrous iron by Conrad, M E, Umbreit, J N, Moore, E G, Hainsworth, L N, Porubcin, M, Simovich, M J, Nakada, M T, Dolan, K, Garrick, M D

“…Separate pathways for transport of nontransferrin ferric and ferrous iron into tissue cultured cells were demonstrated. Neither the ferric nor ferrous pathway…”
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Cellular location of proteins related to iron absorption and transport by Simovich, Marcia J., Conrad, Marcel E., Umbreit, Jay N., Moore, Elizabeth G., Hainsworth, Lucille N., Smith, Hilary K.

“…K562 erythroleukemia cells and IEC6 rat cells were examined using confocal microscopy and antibodies raised against DMT‐1 (Nramp‐2, DCT‐1), transferrin…”
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Localization of the iron transport proteins mobilferrin and DMT‐1 in the duodenum: The surprising role of mucin by Simovich, Marcia, Hainsworth, Lucille N., Fields, P.A., Umbreit, Jay N., Conrad, Marcel E.

“…There are two pathways for inorganic iron uptake in the intestine, the ferric pathway, mediated by the key protein mobilferrin, and the ferrous pathway,…”
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601: Rapid prenatal diagnosis of cytogenetic abnormalities by array CGH analysis by Cheung, Sau Wai, Shaw, Chad, Kang, Sung-Hae, Simovich, Marcia, Pursley, Amber, Darilek, Sandra, Ward, Patricia, Chinault, A. Craig, Patel, Ankita, Lupski, James, Beaudet, Arthur, Eng, Christine, van den Veyver, Ignatia

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The ferrireductase paraferritin contains divalent metal transporter as well as mobilferrin by Umbreit, Jay N, Conrad, Marcel E, Hainsworth, Lucille N, Simovich, Marcia

“…Inorganic iron can be transported into cells in the absence of transferrin. Ferric iron enters cells utilizing an integrin-mobilferrin-paraferritin pathway,…”
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Delineation of the proximal 3q microdeletion syndrome by Simovich, Marcia J., Bland, Steven D., Peiffer, Daniel A., Gunderson, Kevin L., Cheung, Sau Wai, Yatsenko, Svetlana A., Shinawi, Marwan

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