Search Results - "Christacos, Nicole C."
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Incidence and patterns of ALK FISH abnormalities seen in a large unselected series of lung carcinomas
Published in Molecular cytogenetics (2012)“…Anaplastic lymphoma receptor tyrosine kinase (ALK) gene rearrangements have been reported in 2-13% of patients with non-small cell lung cancer (NSCLC)…”
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Expression profiling of uterine leiomyomata cytogenetic subgroups reveals distinct signatures in matched myometrium: transcriptional profiling of the t(12;14) and evidence in support of predisposing genetic heterogeneity
Published in Human molecular genetics (15-05-2012)“…Uterine leiomyomata (UL), the most common neoplasm in reproductive-age women, are classified into distinct genetic subgroups based on recurrent chromosome…”
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Expression profiling of uterine leiomyomata cytogenetic subgroups reveals distinct signatures in matched myometrium: transcriptional profilingof the t(12;14) and evidence in support of predisposing genetic heterogeneity
Published in Human molecular genetics (15-05-2012)“…Uterine leiomyomata (UL), the most common neoplasm in reproductive-age women, are classified into distinct genetic subgroups based on recurrent chromosome…”
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Uterine leiomyomata with deletions of Ip represent a distinct cytogenetic subgroup associated with unusual histologic features
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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Impact of patient mutations on heterodimer formation and function in human galactose-1-P uridylyltransferase
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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A case of lipoblastoma with seven copies of chromosome 8
Published in Cancer genetics and cytogenetics (01-04-2009)Get full text
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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
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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Is the cryptic interstitial deletion of 8q24 surrounding MYC a common mechanism in the formation of double minute chromosome?
Published in Cancer genetics and cytogenetics (01-08-2005)Get full text
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Identification and Characterization of a Mutation, in the Human UDP-Galactose-4-Epimerase Gene, Associated with Generalized Epimerase-Deficiency Galactosemia
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
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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Letter to the editor: A case of lipoblastoma with seven copies of chromosome 8
Published in Cancer genetics and cytogenetics (01-04-2009)Get full text
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A case of lipoblastoma with seven copies of chromosome 8
Published in Cancer genetics and cytogenetics (01-04-2009)Get full text
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