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

od Mlody, Barbara, Wruck, Wasco, Martins, Soraia, Sperling, Karl, Adjaye, James
izdano v Sci Rep (2017)

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

od Vanita, Vanita, Singh, Jai Rup, Singh, Daljit, Varon, Raymonda, Sperling, Karl
Izdano 2008

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

od Vanita, Vanita, Singh, Jai Rup, Singh, Daljit, Varon, Raymonda, Sperling, Karl
Izdano 2008

Novel mutation in the γ-S crystallin gene causing autosomal dominant cataract

od Vanita, Vanita, Singh, Jai Rup, Singh, Daljit, Varon, Raymonda, Sperling, Karl
Izdano 2009

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

od Wolfrum, Katharina, Wang, Ying, Prigione, Alessandro, Sperling, Karl, Lehrach, Hans, Adjaye, James
Izdano 2010

Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects

od Cox, Gerald F., Bürger, Joachim, Lip, Va, Mau, Ulrike A., Sperling, Karl, Wu, Bai-Lin, Horsthemke, Bernhard
Izdano 2002

Creation of monosomic derivatives of human cultured cell lines

od Clarke, Duncan J., Giménez-Abián, Juan F., Tönnies, Holger, Neitzel, Heidemarie, Sperling, Karl, Downes, C. Stephen, Johnson, Robert T.
Izdano 1998

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

od Neitzel, Heidemarie, Neumann, Luitgard M., Schindler, Detlev, Wirges, Andreas, Tönnies, Holger, Trimborn, Marc, Krebsova, Alice, Richter, Reyk, Sperling, Karl
Izdano 2002

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

od Vanita, Singh, Jai Rup, Sarhadi, Virinder K., Singh, Daljit, Reis, André, Rueschendorf, Franz, Becker-Follmann, Johannes, Jung, Martin, Sperling, Karl
Izdano 2001

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

od Polityko, Anna, Khurs, Olga, Rumyantseva, Natalia, Naumchik, Irina, Kosyakova, Nadezda, Tönnies, Holger, Sperling, Karl, Neitzel, Heidemarie, Weise, Anja, Liehr, Thomas
Izdano 2010

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

od Habib, Raneem, Neitzel, Heidemarie, Ernst, Aurelie, Wong, John K. L., Goryluk-Kozakiewicz, Bozenna, Gerlach, Antje, Demuth, Ilja, Sperling, Karl, Chrzanowska, Krystyna
izdano v Mol Cytogenet (2018)

Yeast XRS2 and human NBN gene: Experimental evidence for homology using codon optimized cDNA

od Demuth, Ilja, Krebs, Simon K., Dutrannoy, Véronique, Linke, Christian, Krobitsch, Sylvia, Varon, Raymonda, Lang, Christine, Raab, Andreas, Sperling, Karl, Digweed, Martin
izdano v PLoS One (2018)

Nibrin functions in Ig class-switch recombination

od Kracker, Sven, Bergmann, Yvonne, Demuth, Ilja, Frappart, Pierre-Olivier, Hildebrand, Gabriele, Christine, Rainer, Wang, Zhao-Qi, Sperling, Karl, Digweed, Martin, Radbruch, Andreas
Izdano 2005

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

od Habib, Raneem, Kim, Ryong, Neitzel, Heidemarie, Demuth, Ilja, Chrzanowska, Krystyna, Seemanova, Eva, Faber, Renaldo, Digweed, Martin, Voss, Reinhard, Jäger, Kathrin, Sperling, Karl, Walter, Michael
izdano v Aging (Albany NY) (2020)

Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application

od Salewsky, Bastian, Hildebrand, Gabriele, Rothe, Susanne, Parplys, Ann Christin, Radszewski, Janina, Kieslich, Moritz, Wessendorf, Petra, Krenzlin, Harald, Borgmann, Kerstin, Nussenzweig, André, Sperling, Karl, Digweed, Martin
izdano v Mol Ther (2016)

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

od 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
Izdano 2009

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

od 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
Izdano 2009

The DNA-Based Structure of Human Chromosome 5 in Interphase

od 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
Izdano 2002

Mutations in Microcephalin Cause Aberrant Regulation of Chromosome Condensation

od 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.
Izdano 2004

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

od 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
Izdano 2013