Search Results - "DuPont, B R"

A novel potassium channel gene, KCNQ2 , is mutated in an inherited epilepsy of newborns by Singh, Nanda A, Charlier, Carole, Stauffer, Dora, DuPont, Barbara R, Leach, Robin J, Melis, Roberta, Ronen, Gabriel M, Bjerre, Ingrid, Quattlebaum, Thomas, Murphy, Jerome V, McHarg, Malcolm L, Gagnon, David, Rosales, Teodoro O, Peiffer, Andy, Anderson, V. Elving, Leppert, Mark

“…Idiopathic generalized epilepsies account for about 40% of epilepsy up to age 40 and commonly have a genetic basis. One type is benign familial neonatal…”
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Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome by Lyons, M J, Graham, Jr, J M, Neri, G, Hunter, A G W, Clark, R D, Rogers, R C, Moscarda, M, Boccuto, L, Simensen, R, Dodd, J, Robertson, S, DuPont, B R, Friez, M J, Schwartz, C E, Stevenson, R E

“…FG syndrome (FGS) is an X-linked disorder characterised by mental retardation, hypotonia, particular dysmorphic facial features, broad thumbs and halluces,…”
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Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism by Bhat, SS, Ladd, S, Grass, F, Spence, JE, Brasington, CK, Simensen, RJ, Schwartz, CE, DuPont, BR, Stevenson, RE, Srivastava, AK

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Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype by Vervoort, V S, Viljoen, D, Smart, R, Suthers, G, DuPont, B R, Abbott, A, Schwartz, C E

“…A patient with microcephaly, microphthalmia, ectrodactyly, and prognathism (MMEP) and mental retardation was previously reported to carry a de novo reciprocal…”
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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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Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome : Evidence for myelin basic protein haploinsufficiency by GAY, C. T, HARDIES, L. J, SCHIFF, J. M, KAYE, C. I, LEACH, R. J, FOX, P. T, RAUCH, R. A, LANCASTER, J. L, PLAETKE, R, DUPONT, B. R, CODY, J. D, CORNELL, J. E, HERNDON, R. C, GHIDONI, P. D

“…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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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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Cloning, chromosomal localization and promoter analysis of the human transcription factor YY1 by Yao, Ya-Li, Ghosh, Subir, Fang, Yong, Seto, Edward, Dupont, Barbara R., Leach, Robin J.

“…Yin Yang 1 (YY1) is a protein that activates and represses transcription of a large number of cellular and viral genes. In addition, studies suggest that YY1…”
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Identification of Cryptic Rearrangements in Patients with 18q− Deletion Syndrome by Brkanac, Zoran, Cody, Jannine D., Leach, Robin J., DuPont, Barbara R.

“…The majority of patients with 18q− syndrome appear cytogenetically to have a terminal deletion of the long arm of chromosome 18. These 18q− patients are…”
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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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Ameloblastin Gene (AMBN) Maps within the Critical Region for Autosomal Dominant Amelogenesis Imperfecta at Chromosome 4q21 by MacDougall, Mary, DuPont, Barbara R., Simmons, Darrin, Reus, Bonnie, Krebsbach, Paul, Kärrman, Carina, Holmgren, Gösta, Leach, Robin J., Forsman, Kristina

“…Amelogenesis imperfecta (AI) is a broad group of hereditary enamel defects that is characterized by a high degree of clinical diversity. Recently, the local…”
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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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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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Analysis of Somatic Cell Mutations at the Glycophorin A Locus in Atomic Bomb Survivors: A Comparative Study of Assay Methods by Langlois, R. G., Akiyama, M., Kusunoki, Y., DuPont, B. R., Moore, D. H., Bigbee, W. L., Grant, S. G., Jensen, R. H.

“…The glycophorin A (GPA) assay for in vivo somatic cell mutations was performed on blood samples from 39 survivors of the atomic bomb at Hiroshima. Parallel…”
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Assignment of the Human Nuclear Hormone Receptor, NUC1 (PPARD), to Chromosome 6p21.1–p21.2 by Yoshikawa, Takeo, Brkanac, Zoran, Dupont, Barbara R., Xing, Guo-Qiang, Leach, Robin J., Detera-Wadleigh, Sevilla D.

“…Nuclear hormone receptors act as ligand-activated transcription factors, constituting a large gene family. One of the subfamilies includes the peroxisomal…”
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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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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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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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