Search Results - "Metzke, Simone"
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Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay
Published in American journal of medical genetics. Part A (01-03-2006)“…A boy with signs of Klinefelter syndrome, mild facial dysmorphic features, and severely retarded speech development displayed a female karyotype with mosaicism…”
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Integration of amplified BCR/ABL fusion genes into the short arm of chromosome 17 as a novel mechanism of disease progression in chronic myeloid leukemia
Published in Genes chromosomes & cancer (01-05-2001)“…We describe the cases of two patients with Philadelphia chromosome–positive chronic myeloid leukemia (CML), in whom the extramedullary blastic phase developed…”
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Application of Interphase Fluorescence In Situ Hybridization for the Detection of the Burkitt Translocation t(8;14)(q24;q32) in B-Cell Lymphomas
Published in Blood (01-02-1998)“…The translocation t(8;14)(q24;q32) is the characteristic chromosomal aberration of Burkitt's-type lymphomas and leukemias (BLs). On the molecular level, the…”
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Mapping of the breakpoints on the short arm of chromosome 17 in neoplasms with an i(17q)
Published in Genes chromosomes & cancer (01-07-1999)“…Isochromosomes are monocentric or dicentric chromosomes with homologous arms that are attached in a reverse configuration as mirror images. With an incidence…”
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Breakpoint Cloning and Haplotype Analysis Indicate a Single Origin of the Common Inv(10)(p11.2q21.2) Mutation among Northern Europeans
Published in American journal of human genetics (01-05-2006)“…The pericentric inv(10)(p11.2q21.2) mutation has been frequently identified in cytogenetic laboratories, is phenotypically silent, and is considered to be a…”
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Application of Interphase Fluorescence In Situ Hybridization for the Detection of the Burkitt Translocation t(8;14)(q24;q32) in B-Cell Lymphomas
Published in Blood (01-02-1998)“…The translocation t(8;14)(q24;q32) is the characteristic chromosomal aberration of Burkitt's-type lymphomas and leukemias (BLs). On the molecular level, the…”
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The short arm of chromosome 18 is a recurrent integration site of a supernumerary BCR/ABL gene fusion in chronic myeloid leukemia
Published in Cancer genetics and cytogenetics (01-12-2007)Get full text
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