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

nork Mlody, Barbara, Wruck, Wasco, Martins, Soraia, Sperling, Karl, Adjaye, James
Argitaratua izan da Sci Rep (2017)

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

nork Vanita, Vanita, Singh, Jai Rup, Singh, Daljit, Varon, Raymonda, Sperling, Karl
Argitaratua 2008

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

nork Vanita, Vanita, Singh, Jai Rup, Singh, Daljit, Varon, Raymonda, Sperling, Karl
Argitaratua 2008

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

nork Vanita, Vanita, Singh, Jai Rup, Singh, Daljit, Varon, Raymonda, Sperling, Karl
Argitaratua 2009

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

nork Wolfrum, Katharina, Wang, Ying, Prigione, Alessandro, Sperling, Karl, Lehrach, Hans, Adjaye, James
Argitaratua 2010

Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects

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

Creation of monosomic derivatives of human cultured cell lines

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

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

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

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

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

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

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

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

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

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

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

Nibrin functions in Ig class-switch recombination

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

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

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

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

nork 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
Argitaratua izan da Mol Ther (2016)

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

nork 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
Argitaratua 2009

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

nork 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
Argitaratua 2009

The DNA-Based Structure of Human Chromosome 5 in Interphase

nork 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
Argitaratua 2002

Mutations in Microcephalin Cause Aberrant Regulation of Chromosome Condensation

nork 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.
Argitaratua 2004

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

nork 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
Argitaratua 2013