Search Results - "Dupont, B.R."

Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies by Bhat, S S, Schmidt, K R, Ladd, S, Kim, K C, Schwartz, C E, Simensen, R J, DuPont, B R, Stevenson, R E, Srivastava, A K

“…We have studied a male patient with significant developmental delay, growth failure, hypotonia, girdle weakness, microcephaly, and multiple congenital…”
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Assignment of dentin sialophosphoprotein (DSPP) to the critical DGI2 locus on human chromosome 4 band q21.3 by in situ hybridization by MacDougall, M, Simmons, D, Luan, X, Gu, T T, DuPont, B R

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Cloning Human Enamelin cDNA, Chromosomal Localization, and Analysis of Expression during Tooth Development by Hu, C.-C., Hart, T.C., Dupont, B.R., Chen, J.J., Sun, X., Qian, Q., Zhang, C.H., Jiang, H., Mattern, V.L., Wright, J.T., Simmer, J.P.

“…Enamelin is the largest protein in the enamel matrix of developing teeth. In the pig, enamelin is secreted as 186-kDa phosphorylated glycoprotein, which is…”
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Sorting nexin 3 by Vervoort, V.S, Viljoen, D, Smart, R, Suthers, G, DuPont, B.R, Abbott, A, Schwartz, C.E

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Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome by Gay, C.T., Hardies, L.J., Rauch, R.A., Lancaster, J.L., Plaetke, R., DuPont, B.R., Cody, J.D., Cornell, John E., Herndon, R.C., Ghidoni, P.D., Schiff, J.M., Kaye, C.I., Leach, R.J., Fox, P.T.

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Assignment of DMP1 to human chromosome 4 band q21 by in situ hybridization by MacDougall, M, DuPont, B R, Simmons, D, Leach, R J

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New Variants of the Human and Rat Nuclear Hormone Receptor, TR4: Expression and Chromosomal Localization of the Human Gene by Yoshikawa, Takeo, DuPont, Barbara R., Leach, Robin J., Detera-Wadleigh, Sevilla D.

“…TR4 is a new member of the nuclear hormone receptor family. This receptor is highly conserved in rat and human, but an in-frame insertion of 19 amino acid…”
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Reassignment of the 92-kDa type IV collagenase gene (CLG4B) to human chromosome 20 by Linn, R, DuPont, B R, Knight, C B, Plaetke, R, Leach, R J

“…The collagenase type IV B gene (CLG4B) was previously mapped to human chromosome 16 by hybridization of a cDNA probe to DNAs from a somatic cell hybrid panel…”
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Localization of a Gene for a Glutamate Binding Subunit of a NMDA Receptor (GRINA) to 8q24 by Lewis, T.B., Wood, S., Michaelis, E.K., DuPont, B.R., Leach, R.J.

“…A glutamate binding subunit gene, GRINA, has been previously mapped to human chromosome 8. A form of inherited epilepsy, benign familial neonatal convulsions…”
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Assignment of SAFB encoding Hsp27 ERE-TATA binding protein (HET)/scaffold attachment factor B (SAF-B) to human chromosome 19 band p13 by DuPont, B R, Garcia, D K, Sullivan, T M, Naylor, S L, Oesterreich, S

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Molecular characterization of glycophorin A transcripts in human erythroid cells using RT-PCR, allele-specific restriction, and sequencing by DuPont, B R, Grant, S G, Oto, S H, Bigbee, W L, Jensen, R H, Langlois, R G

“…Glycophorin A (GPA) is an erythroid-lineage-specific membrane sialoglycoprotein which occurs in two allelic forms, M and N, which form the antigens of the MN…”
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Assignment of matrix metalloproteinase 9 (Mmp9) to mouse chromosome 2 bands H1-H2 by DuPont, B R, Linn, R, Knight, C B, Roodman, G D, Sakaguchi, A Y, Lalley, P A, Fournier, R E, Leach, R J

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Magnetic resonance imaging demonstrates incomplete myelination in 18q‐ syndrome by Gay, C.T., Hardies, L.J., Rauch, R.A., Lancaster, J.L., Plaetke, R., DuPont, B.R., Cody, J.D., Cornell, John E., Herndon, R.C., Ghidoni, P.D., Schiff, J.M., Kaye, C.I., Leach, R.J., Fox, P.T.

“…Magnetic resonance imaging (MRI) and MRI relaxometry were used to investigate disturbed brain myelination in 18q‐ syndrome, a disorder characterized by mental…”
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Interstitial duplication 19p by Stratton, R F, DuPont, B R, Olsen, A S, Fertitta, A, Hoyer, M, Moore, C M

“…We report on a 9-month-old girl with an interstitial duplication of 19p, developmental delay, and multiple anomalies including bifrontal prominence, obtuse…”
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