检索结果 - Sperling, Karl

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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A Systematic Proteomic Study of Irradiated DNA Repair Deficient Nbn-Mice 由 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

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Correction: A Systematic Proteomic Study of Irradiated DNA Repair Deficient Nbn-Mice 由 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

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Mutations in Microcephalin Cause Aberrant Regulation of Chromosome Condensation 由 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.

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Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects 由 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

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The DNA-Based Structure of Human Chromosome 5 in Interphase 由 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

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Dosage effect of zero to three functional LBR-genes in vivo and in vitro 由 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

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