Search Results - "Nietzel, Angela"

Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification by Starke, Heike, Nietzel, Angela, Weise, Anja, Heller, Anita, Mrasek, Kristin, Belitz, Britta, Kelbova, Christine, Volleth, Marianne, Albrecht, Beate, Mitulla, Beate, Trappe, Ralf, Bartels, Iris, Adolph, Sabine, Dufke, Andreas, Singer, Sylke, Stumm, Markus, Wegner, Rolf-Dieter, Seidel, Jörg, Schmidt, Angela, Kuechler, Alma, Schreyer, Isolde, Claussen, Uwe, von Eggeling, Ferdinand, Liehr, Thomas

“…Small supernumerary marker chromosomes (SMCs) are present in about 0.05% of the human population. In approximately 30% of SMC carriers (excluding the…”
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A new multicolor-FISH approach for the characterization of marker chromosomes : Centromere-specific multicolor-FISH (CenM-FISH) by NIETZEL, Angela, ROCCHI, Mariano, STARKE, Heike, HELLER, Anita, FIEDLER, Wolfgang, WLODARSKA, Iwona, LONCAREVIC, Ivan F, BEENSEN, Volkmar, CLAUSSEN, Uwe, LIEHR, Thomas

“…Centromere-specific multi-color FISH (cenM-FISH) is a new multicolor FISH technique that allows the simultaneous characterization of all human centromeres by…”
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Karyotyping of human synaptonemal complexes by cenM-FISH by OLIVER-BONET, Maria, LIEHR, Thomas, NAVARRO, Joaquima, BENET, Jordi, NIETZEL, Angela, HELLER, Anita, STARKE, Heike, CLAUSSEN, Uwe, CODINA-PASCUAL, Montserrat, PUJOL, Aïda, ABAD, Carlos, EGOZCUE, Josep

“…The purpose of this work was to adapt the recently described centromere-specific multicolour (cenM-) FISH technique to human meiotic cells, and evaluate the…”
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Enlarged chromosome 13 p-arm hiding a cryptic partial trisomy 6p22.2-pter by Trifonov, Vladimir, Seidel, Jörg, Starke, Heike, Martina, Prechtel, Beensen, Volkmar, Ziegler, Monika, Hartmann, Isabell, Heller, Anita, Nietzel, Angela, Claussen, Uwe, Liehr, Thomas

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Suspension (S)-FISH, a New Technique for Interphase Nuclei by Steinhaeuser, Ulf, Starke, Heike, Nietzel, Angela, Lindenau, Joerg, Ullmann, Peter, Claussen, Uwe, Liehr, Thomas

“…We describe a versatile method for performing fluorescence in situ hybridization (FISH) in suspension instead of on a slide as usually done. This so-called…”
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Small supernumerary marker chromosomes by Starke, Heike, Nietzel, Angela, Weise, Anja, Heller, Anita, Mrasek, Kristin, Belitz, Britta, Kelbova, Christine

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Molecular cytogenetic characterization of an acquired minute supernumerary marker chromosome as the sole abnormality in a case clinically diagnosed as atypical Philadelphia‐negative chronic myelogenous leukaemia by Starke, Heike, Raida, Martin, Trifonov, Vladimir, Clement, Joachim H., Loncarevic, Ivan F., Heller, Anita, Bleck, Cordula, Nietzel, Angela, Rubtsov, Nikolai, Claussen, Uwe, Liehr, Thomas

“…A case of chronic myelogenous leukaemia (CML) in a 48‐year‐old man is reported. To the best of our knowledge, this is the first report of a…”
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First patient with trisomy 21 accompanied by an additional der(4)(:p11 → q11:) plus partial uniparental disomy 4p15-16 by Starke, Heike, Mitulla, Beate, Nietzel, Angela, Heller, Anita, Beensen, Volkmar, Grosswendt, Gisela, Claussen, Uwe, von Eggeling, Ferdinand, Liehr, Thomas

“…We report on a rare additional numerical chromosomal aberration in a child with Down syndrome due to free trisomy 21. The karyotype showed 48,XY,+21,+mar after…”
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Two more possible pitfalls of rapid prenatal diagnostics using interphase nuclei by Liehr, Thomas, Schreyer, Isolde, Neumann, Annett, Beensen, Volkmar, Ziegler, Monika, Hartmann, Isabell, Starke, Heike, Heller, Anita, Nietzel, Angela, Claussen, Uwe

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Molecular cytogenetic characterization of a prenatally detected supernumerary minute marker chromosome 8 by Starke, Heike, Schreyer, Isolde, Kähler, Christine, Fiedler, Wolfgang, Beensen, Volkmar, Heller, Anita, Nietzel, Angela, Claussen, Uwe, Liehr, Thomas

“…The characterization of a prenatally detected very small (approximately half of 18p—(karyotype: 47,XX,+mar[16]/46,XX[7]) supernumerary marker chromosome (SMC)…”
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Small supernumerary marker chromosomes (SMCs): fenotype-phenotype correlation and classification by STARKE, Heike, NIETZEL, Angela, TRAPPE, Ralf, BARTELS, Iris, ADOLPH, Sabine, DUFKE, Andreas, SINGER, Sylke, STUMM, Markus, WEGNER, Rolf-Dieter, SEIDEL, Jörg, SCHMIDT, Angela, KUECHLER, Alma, WEISE, Anja, SCHREYER, Isolde, CLAUSSEN, Uwe, VON EGGELING, Ferdinand, LIEHR, Thomas, HELLER, Anita, MRASEK, Kristin, BELITZ, Britta, KELBOVA, Christine, VOLLETH, Marianne, ALBRECHT, Beate, MITULLA, Beate

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Two more possible pitfalls of rapid prenatal diagnostics using interphase nuclei by Liehr, Thomas, Schreyer, Isolde, Neumann, Annett, Beensen, Volkmar, Ziegler, Monika, Hartmann, Isabell, Starke, Heike, Heller, Anita, Nietzel, Angela, Claussen, Uwe

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Enlarged chromosome 13 p-arm hiding a cryptic partial trisomy 6p22.2-pter by Trifonov, Vladimir, Seidel, Jörg, Starke, Heike, Martina, Prechtel, Beensen, Volkmar, Ziegler, Monika, Hartmann, Isabell, Heller, Anita, Nietzel, Angela, Claussen, Uwe, Liehr, Thomas

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