Search Results - "Metzke‐Heidemann, Simone"

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  1. 1
    Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay

    Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay by Weimer, Jörg, Metzke‐Heidemann, Simone, Plendl, Hansjörg, Caliebe, Almuth, Grunewald, Regina, Õunap, Katrin, Tammur, Pille, Jonat, Walter, Bartsch, Oliver, Siebert, Reiner, Arnold, Norbert

    “…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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  2. 2
    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

    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 by Metzke-Heidemann, Simone, Harder, Lana, Gesk, Stefan, Schoch, Robert, Jenisch, Stefan, Grote, Werner, Siebert, Reiner, Schlegelberger, Brigitte

    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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  3. 3
    Breakpoint Cloning and Haplotype Analysis Indicate a Single Origin of the Common Inv(10)(p11.2q21.2) Mutation among Northern Europeans

    Breakpoint Cloning and Haplotype Analysis Indicate a Single Origin of the Common Inv(10)(p11.2q21.2) Mutation among Northern Europeans by Gilling, Mette, Dullinger, Jörn S., Gesk, Stefan, Metzke-Heidemann, Simone, Siebert, Reiner, Meyer, Thomas, Brondum-Nielsen, Karen, Tommerup, Niels, Ropers, Hans-Hilger, Tümer, Zeynep, Kalscheuer, Vera M., Thomas, N. Simon

    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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  4. 4
    The short arm of chromosome 18 is a recurrent integration site of a supernumerary BCR/ABL gene fusion in chronic myeloid leukemia

    The short arm of chromosome 18 is a recurrent integration site of a supernumerary BCR/ABL gene fusion in chronic myeloid leukemia by Metzke-Heidemann, Simone, Harder, Lana, Gesk, Stefan, Grimm, Wolfgang, Siebert, Reiner

    Published in Cancer genetics and cytogenetics (01-12-2007)
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  5. 5
    Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay

    Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay by Weimer, Jörg, Metzke-Heidemann, Simone, Plendl, Hansjörg, Caliebe, Almuth, Grunewald, Regina, Õunap, Katrin, Tammur, Pille, Jonat, Walter, Bartsch, Oliver, Siebert, Reiner, Arnold, Norbert

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