Search Results - "Demmer, L. A."

Rat Cellular Retinol-Binding Protein II: Use of a Cloned cDNA to Define Its Primary Structure, Tissue-Specific Expression, and Developmental Regulation by Li, Ellen, Demmer, Laurie A., Sweetser, David A., Ong, David E., Gordon, Jeffrey I.

“…The primary structure of rat cellular retinol-binding protein (CRBP) II has been determined from a cloned cDNA. Alignment of this 134-amino acid, 15,580-Da…”
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Tissue-Specific Expression and Developmental Regulation of the Rat Apolipoprotein B Gene by Demmer, Laurie A., Levin, Marc S., Elovson, John, Reuben, Michael A., Lusis, Aldons J., Gordon, Jeffrey I.

“…Expression of the apolipoprotein B (apoB) gene was examined in a variety of fetal, neonatal, and adult rat tissues by probing RNA blots with a cloned rat apoB…”
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New England Consortium: A model for medical evaluation of expanded newborn screening with tandem mass spectrometry by Albers, S., Waisbren, S. E., Ampola, M. G., Brewster, T. G., Burke, L. W., Demmer, L. A., Filiano, J., Greenstein, R. M. G., Ingham, C. L., Korson, M. S., Marsden, D., Schwartz, R. C., Seashore, M. R., Shih, V. E., Levy, H. L.

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The cellular retinol binding protein II gene. Sequence analysis of the rat gene, chromosomal localization in mice and humans, and documentation of its close linkage to the cellular retinol binding protein gene by Demmer, L.A., Birkenmeier, E.H., Sweetser, D.A., Levin, M.S., Zollman, S., Sparkes, R.S., Mohandas, T., Lusis, A.J., Gordon, J.I.

“…Cellular retinol binding protein II (CRBP II) is an abundant, 134-residue protein present in the small intestinal epithelium. It is thought to participate in…”
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Periventricular white matter cystic lesions in lowe (oculocerebrorenal) syndrome. A new MR finding by DEMMER, L. A, WIPPOLD, F. J, DOWTON, S. B

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A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female by Demmer, Laurie A., Kim, Jean M., de Martinville, Berengere, Dowton, S. Bruce

“…We have identified a novel nonsense mutation in genomic DNA from leukocytes of a symptomatic female with ornithine transcarbamylase (OTC) deficiency. The…”
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Simultaneous transfer of four functional genes from the HLA class II region into mammalian cells by fusion with yeast spheroplasts carrying an artificial chromosome by Demmer, LA, Chaplin, DD

“…Gene transfer using yeast artificial chromosome (YAC) clones provides an opportunity to study the expression of several linked genes within an environment more…”
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An interdisciplinary interclerkship in genetic testing and ethics by Demmer, L A, Totzkay, C M, Zapka, J G

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Knowledge of Ethical Standards in Genetic Testing Among Medical Students, Residents, and Practicing Physicians by Demmer, Laurie A, O'Neill, Mary J, Roberts, Amy E, Clay, Marjorie C

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Lessons learned from the introduction of personalized genotyping into a medical school curriculum by Walt, David R., Kuhlik, Amy, Epstein, Scott K., Demmer, Laurie A., Knight, Meredith, Chelmow, David, Rosenblatt, Michael, Bianchi, Diana W.

“…There is an expanding gap between the availability of direct-to-consumer whole genome testing and physician knowledge regarding interpretation of test results…”
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The natural history of trisomy 12p by Segel, Reeval, Peter, Inga, Demmer, Laurie A., Cowan, Janet M., Hoffman, Jodi D., Bianchi, Diana W.

“…Trisomy of the short arm of chromosome 12 is a rare chromosomal anomaly, with an estimated incidence of 1/50,000 births. It may present as a pure trisomy…”
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The cellular retinol binding protein II gene: sequence analysis of the rat gene, chromosomal localization in mice and humans, and documantation of its close linkage to the cellular retinol binding protein gene by DEMMER, L. A, BIRKENMEIER, E. H, SWEETSER, D. A, LEVIN, M. S, ZOLLMAN, S, SPARKES, R. S, MOHANDAS, T, LUSIS, A. J, GORDON, J. I

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A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female by Demmer, L A, Kim, J M, de Martinville, B, Dowton, S B

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