Search Results - "Christacos, Nicole C."

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    Uterine leiomyomata with deletions of Ip represent a distinct cytogenetic subgroup associated with unusual histologic features by Christacos, Nicole C., Quade, Bradley J., Cin, Paola Dal, Morton, Cynthia C.

    Published in Genes chromosomes & cancer (01-03-2006)
    “…Cytogenetic analysis of uterine leiomyomata (UL) shows that about 40% of these benign tumors have simple, clonal chromosomal rearrangements. In contrast, their…”
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    Journal Article
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    Impact of patient mutations on heterodimer formation and function in human galactose-1-P uridylyltransferase by Christacos, Nicole C., Fridovich-Keil, Judith L.

    Published in Molecular genetics and metabolism (01-08-2002)
    “…Impairment of the human enzyme galactose-1-P uridylyltransferase (hGALT) results in the potentially lethal disorder, galactosemia. One of the fundamental…”
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    Journal Article
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    Insertion (12;9)(p13;q34q34): a cryptic rearrangement involving ABL1/ETV6 fusion in a patient with Philadelphia-negative chronic myeloid leukemia by Kelly, JoAnn C, Shahbazi, Nasrin, Scheerle, Jay, Jahn, Jennifer, Suchen, Stephany, Christacos, Nicole C, Mowrey, Philip N, Witt, Mary H, Hostetter, Alden, Meloni-Ehrig, Aurelia M

    Published in Cancer genetics and cytogenetics (01-07-2009)
    “…Abstract We report a rare cryptic ins(12;9)(p13;q34q34), a chromosomal abnormality involving the ABL1 (9q34) and the ETV6 (alias TEL ; 12p13) genes, detectable…”
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    Journal Article
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    Identification and Characterization of a Mutation, in the Human UDP-Galactose-4-Epimerase Gene, Associated with Generalized Epimerase-Deficiency Galactosemia by Wohlers, Travis M., Christacos, Nicole C., Harreman, Michelle T., Fridovich-Keil, Judith L.

    Published in American journal of human genetics (01-02-1999)
    “…Epimerase-deficiency galactosemia results from impairment of the human enzyme UDP-galactose-4-epimerase (hGALE). We and others have identified substitution…”
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    Subcellular Localization of Galactose-1-phosphate Uridylyltransferase in the Yeast Saccharomyces cerevisiae by Christacos, Nicole C., Marson, Melanie J., Wells, Lance, Riehman, Kristen, Fridovich-Keil, Judith L.

    Published in Molecular genetics and metabolism (01-08-2000)
    “…The enzyme galactose-1-phosphate uridylyltransferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, following galactokinase…”
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    Journal Article
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