Search Results - Sperling, Karl

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  1. 1
    Nijmegen Breakage Syndrome fibroblasts and iPSCs: cellular models for uncovering disease-associated signaling pathways and establishing a screening platform for anti-oxidants

    Nijmegen Breakage Syndrome fibroblasts and iPSCs: cellular models for uncovering disease-associated signaling pathways and establishing a screening platform for anti-oxidants by Mlody, Barbara, Wruck, Wasco, Martins, Soraia, Sperling, Karl, Adjaye, James

    Published 2017
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  2. 2
    A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin

    A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin by Vanita, Vanita, Singh, Jai Rup, Singh, Daljit, Varon, Raymonda, Sperling, Karl

    Published 2008
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  3. 3
    A mutation in GJA8 (p.P88Q) is associated with “balloon-like” cataract with Y-sutural opacities in a family of Indian origin

    A mutation in GJA8 (p.P88Q) is associated with “balloon-like” cataract with Y-sutural opacities in a family of Indian origin by Vanita, Vanita, Singh, Jai Rup, Singh, Daljit, Varon, Raymonda, Sperling, Karl

    Published 2008
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  4. 4
    Novel mutation in the γ-S crystallin gene causing autosomal dominant cataract

    Novel mutation in the γ-S crystallin gene causing autosomal dominant cataract by Vanita, Vanita, Singh, Jai Rup, Singh, Daljit, Varon, Raymonda, Sperling, Karl

    Published 2009
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  5. 5
    The LARGE Principle of Cellular Reprogramming: Lost, Acquired and Retained Gene Expression in Foreskin and Amniotic Fluid-Derived Human iPS Cells

    The LARGE Principle of Cellular Reprogramming: Lost, Acquired and Retained Gene Expression in Foreskin and Amniotic Fluid-Derived Human iPS Cells by Wolfrum, Katharina, Wang, Ying, Prigione, Alessandro, Sperling, Karl, Lehrach, Hans, Adjaye, James

    Published 2010
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  6. 6
    Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects

    Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects by Cox, Gerald F., Bürger, Joachim, Lip, Va, Mau, Ulrike A., Sperling, Karl, Wu, Bai-Lin, Horsthemke, Bernhard

    Published 2002
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  7. 7
    Creation of monosomic derivatives of human cultured cell lines

    Creation of monosomic derivatives of human cultured cell lines by Clarke, Duncan J., Giménez-Abián, Juan F., Tönnies, Holger, Neitzel, Heidemarie, Sperling, Karl, Downes, C. Stephen, Johnson, Robert T.

    Published 1998
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  8. 8
    Premature Chromosome Condensation in Humans Associated with Microcephaly and Mental Retardation: A Novel Autosomal Recessive Condition

    Premature Chromosome Condensation in Humans Associated with Microcephaly and Mental Retardation: A Novel Autosomal Recessive Condition by Neitzel, Heidemarie, Neumann, Luitgard M., Schindler, Detlev, Wirges, Andreas, Tönnies, Holger, Trimborn, Marc, Krebsova, Alice, Richter, Reyk, Sperling, Karl

    Published 2002
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  9. 9
    A Novel Form of “Central Pouchlike” Cataract, with Sutural Opacities, Maps to Chromosome 15q21-22

    A Novel Form of “Central Pouchlike” Cataract, with Sutural Opacities, Maps to Chromosome 15q21-22 by Vanita, Singh, Jai Rup, Sarhadi, Virinder K., Singh, Daljit, Reis, André, Rueschendorf, Franz, Becker-Follmann, Johannes, Jung, Martin, Sperling, Karl

    Published 2001
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  10. 10
    Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?

    Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder deli... by Polityko, Anna, Khurs, Olga, Rumyantseva, Natalia, Naumchik, Irina, Kosyakova, Nadezda, Tönnies, Holger, Sperling, Karl, Neitzel, Heidemarie, Weise, Anja, Liehr, Thomas

    Published 2010
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  11. 11
    Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome

    Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome by Habib, Raneem, Neitzel, Heidemarie, Ernst, Aurelie, Wong, John K. L., Goryluk-Kozakiewicz, Bozenna, Gerlach, Antje, Demuth, Ilja, Sperling, Karl, Chrzanowska, Krystyna

    Published 2018
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  12. 12
    Yeast XRS2 and human NBN gene: Experimental evidence for homology using codon optimized cDNA

    Yeast XRS2 and human NBN gene: Experimental evidence for homology using codon optimized cDNA by Demuth, Ilja, Krebs, Simon K., Dutrannoy, Véronique, Linke, Christian, Krobitsch, Sylvia, Varon, Raymonda, Lang, Christine, Raab, Andreas, Sperling, Karl, Digweed, Martin

    Published 2018
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  13. 13
    Nibrin functions in Ig class-switch recombination

    Nibrin functions in Ig class-switch recombination by Kracker, Sven, Bergmann, Yvonne, Demuth, Ilja, Frappart, Pierre-Olivier, Hildebrand, Gabriele, Christine, Rainer, Wang, Zhao-Qi, Sperling, Karl, Digweed, Martin, Radbruch, Andreas

    Published 2005
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  14. 14
    Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome

    Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome by Habib, Raneem, Kim, Ryong, Neitzel, Heidemarie, Demuth, Ilja, Chrzanowska, Krystyna, Seemanova, Eva, Faber, Renaldo, Digweed, Martin, Voss, Reinhard, Jäger, Kathrin, Sperling, Karl, Walter, Michael

    Published 2020
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  15. 15
    A Systematic Proteomic Study of Irradiated DNA Repair Deficient Nbn-Mice

    A Systematic Proteomic Study of Irradiated DNA Repair Deficient Nbn-Mice by Melchers, Anna, Stöckl, Lars, Radszewski, Janina, Anders, Marco, Krenzlin, Harald, Kalischke, Candy, Scholz, Regina, Jordan, Andreas, Nebrich, Grit, Klose, Joachim, Sperling, Karl, Digweed, Martin, Demuth, Ilja

    Published 2009
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  16. 16
    Correction: A Systematic Proteomic Study of Irradiated DNA Repair Deficient Nbn-Mice

    Correction: A Systematic Proteomic Study of Irradiated DNA Repair Deficient Nbn-Mice by Melchers, Anna, Stöckl, Lars, Radszewski, Janina, Anders, Marco, Krenzlin, Harald, Kalischke, Candy, Scholz, Regina, Jordan, Andreas, Nebrich, Grit, Klose, Joachim, Sperling, Karl, Digweed, Martin, Demuth, Ilja

    Published 2009
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  17. 17
    Mutations in Microcephalin Cause Aberrant Regulation of Chromosome Condensation

    Mutations in Microcephalin Cause Aberrant Regulation of Chromosome Condensation by Trimborn, Marc, Bell, Sandra M., Felix, Clive, Rashid, Yasmin, Jafri, Hussain, Griffiths, Paul D., Neumann, Luitgard M., Krebs, Alice, Reis, André, Sperling, Karl, Neitzel, Heidemarie, Jackson, Andrew P.

    Published 2004
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  18. 18
    Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects

    Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects by Arélin, Maria, Schulze, Bernt, Müller-Myhsok, Bertram, Horn, Denise, Diers, Alexander, Uhlenberg, Birgit, Nürnberg, Peter, Nürnberg, Gudrun, Becker, Christian, Mundlos, Stefan, Lindner, Tom H, Sperling, Karl, Hoffmann, Katrin

    Published 2013
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  19. 19
    The DNA-Based Structure of Human Chromosome 5 in Interphase

    The DNA-Based Structure of Human Chromosome 5 in Interphase by Lemke, Johannes, Claussen, Jan, Michel, Susanne, Chudoba, Ilse, Mühlig, Peter, Westermann, Martin, Sperling, Karl, Rubtsov, Nikolai, Grummt, Ulrich-Walter, Ullmann, Peter, Kromeyer-Hauschild, Katrin, Liehr, Thomas, Claussen, Uwe

    Published 2002
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  20. 20
    Dosage effect of zero to three functional LBR-genes in vivo and in vitro

    Dosage effect of zero to three functional LBR-genes in vivo and in vitro by Gravemann, Sophia, Schnipper, Nele, Meyer, Hannes, Vaya, Amparo, Nowaczyk, Malgorzata JM, Rajab, Anna, Hofmann, Wolf-Karsten, Salewsky, Bastian, Tönnies, Holger, Neitzel, Heidemarie, Stassen, Hans H, Sperling, Karl, Hoffmann, Katrin

    Published 2010
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