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Number of items: 28.

Journal Article

Beckmann, Nadine, Becker, Katrin Anne, Walter, Silke, Becker, Jan U., Kramer, Melanie, Hessler, Gabriele, Weber, Stefanie, Goethert, Joachim R., Fassbender, Klaus ORCID: 0000-0003-3596-868X, Gulbins, Erich and Carpinteiro, Alexander (2017). Regulation of Arthritis Severity by the Acid Sphingomyelinase. Cell. Physiol. Biochem., 43 (4). S. 1460 - 1472. BASEL: KARGER. ISSN 1421-9778

Buescher, Anja K., Beck, Bodo B., Melk, Anette, Hoefele, Julia ORCID: 0000-0002-7917-7129, Kranz, Birgitta, Bamborschke, Daniel, Baig, Sabrina, Lange-Sperandio, Barbel, Jungraithmayr, Theresa, Weber, Lutz T., Kemper, Markus J., Toenshoff, Burkhard, Hoyer, Peter F., Konrad, Martin and Weber, Stefanie (2016). Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome. Clin. J. Am. Soc. Nephrol., 11 (2). S. 245 - 254. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1555-905X

Buescher, Anja K., Kranz, Birgitta, Beck, Bodo, Hoefele, Julia, Oh, Jun, Lange-sperandio, Baerbel, Jungraithmayr, Therese, Weber, Lutz T., Kemper, Markus J., Toenshoff, Burkhard, Melk, Anette, Hoyer, Peter F., Konrad, Martin and Weber, Stefanie (2014). cns/srns-outcome-study: Efficacy Of Immunosuppressive Therapy And Renal Function In Patients With Hereditary And Non-hereditary Steroid-resistant Nephrotic Syndrome. Pediatr. Nephrol., 29 (9). S. 1673 - 1675. NEW YORK: SPRINGER. ISSN 1432-198X

Doerfler, Walter, Weber, Stefanie and Naumann, Anja (2018). Inheritable epigenetic response towards foreign DNA entry by mammalian host cells: a guardian of genomic stability. Epigenetics, 13 (12). S. 1141 - 1154. PHILADELPHIA: TAYLOR & FRANCIS INC. ISSN 1559-2308

Ehren, Rasmus, Benz, Marcus R., Brinkkoetter, Paul T., Doetsch, Joerg, Eberl, Wolfgang R., Gellermann, Jutta, Hoyer, Peter F., Jordans, Isabelle, Kamrath, Clemens, Kemper, Markus J., Latta, Kay, Mueller, Dominik, Oh, Jun, Toenshoff, Burkhard, Weber, Stefanie and Weber, Lutz T. (2021). Pediatric idiopathic steroid-sensitive nephrotic syndrome: diagnosis and therapy -short version of the updated German best practice guideline (S2e) - AWMF register no. 166-001, 6/2020. Pediatr. Nephrol., 36 (10). S. 2971 - 2986. NEW YORK: SPRINGER. ISSN 1432-198X

Ehren, Rasmus, Benz, Marcus R., Brinkkoetter, Paul T., Doetsch, Jorg, Eberl, Wolfgang R., Gellermann, Jutta, Hoyer, Peter F., Jordans, Isabelle, Kamrath, Clemens, Kemper, Markus J., Latta, Kay, Mueller, Dominik, Oh, Jun, Toenshoff, Burkhard, Weber, Stefanie and Weber, Lutz T. (2021). Commentary on Pediatric Idiopathic Steroid-sensitive Nephrotic Syndrome Diagnosis and Therapy-Short version of the updated German Best Practice Guideline (S2e). Pediatr. Nephrol., 36 (10). S. 2961 - 2967. NEW YORK: SPRINGER. ISSN 1432-198X

Gee, Heon Yung ORCID: 0000-0002-8741-6177, Otto, Edgar A., Hurd, Toby W., Ashraf, Shazia, Chaki, Moumita, Cluckey, Andrew, Vega-Warner, Virginia, Saisawat, Pawaree, Diaz, Katrina A., Fang, Humphrey, Kohl, Stefan, Allen, Susan J., Airik, Rannar, Zhou, Weibin, Ramaswami, Gokul, Janssen, Sabine, Fu, Clementine, Innis, Jamie L., Weber, Stefanie, Vester, Udo, Davis, Erica E., Katsanis, Nicholas ORCID: 0000-0002-2480-0171, Fathy, Hanan M., Jeck, Nikola, Klaus, Gunther, Nayir, Ahmet, Rahim, Khawla A., Al Attrach, Ibrahim, Al Hassoun, Ibrahim, Ozturk, Savas ORCID: 0000-0002-0961-3810, Drozdz, Dorota, Helmchen, Udo, O'Toole, John F., Attanasio, Massimo ORCID: 0000-0002-1278-3650, Lewis, Richard A., Nuernberg, Gudrun, Nuernberg, Peter, Washburn, Joseph, MacDonald, James, Innis, Jeffrey W., Levy, Shawn ORCID: 0000-0002-1369-5740 and Hildebrandt, Friedhelm (2014). Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. Kidney Int., 85 (4). S. 880 - 888. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

Gimpel, Charlotte, Avni, Fred E., Bergmann, Carsten, Cetiner, Metin, Habbig, Sandra, Haffner, Dieter, Koenig, Jens, Konrad, Martin, Liebau, Max C., Pape, Lars, Rellensmann, Georg, Titieni, Andrea, von Kaisenberg, Constantin, Weber, Stefanie, Winyard, Paul J. D. and Schaefer, Franz (2018). Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases A Clinical Practice Recommendation With Systematic Literature Reviews. JAMA Pediatr., 172 (1). S. 74 - 87. CHICAGO: AMER MEDICAL ASSOC. ISSN 2168-6211

Gimpel, Charlotte ORCID: 0000-0003-1296-9081, Bergmann, Carsten, Bockenhauer, Detlef ORCID: 0000-0001-5878-941X, Breysem, Luc, Cadnapaphornchai, Melissa A., Cetiner, Metin, Dudley, Jan, Emma, Francesco, Konrad, Martin, Harris, Tess, Harris, Peter C., Koenig, Jens, Liebau, Max C., Marlais, Matko ORCID: 0000-0001-7503-7893, Mekahli, Djalila, Metcalfe, Alison M., Oh, Jun, Perrone, Ronald D., Sinha, Manish D., Titieni, Andrea, Torra, Roser ORCID: 0000-0001-8714-2332, Weber, Stefanie, Winyard, Paul J. D. and Schaefer, Franz (2019). International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people. Nat. Rev. Nephrol., 15 (11). S. 713 - 727. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1759-507X

Gimpel, Charlotte, Bergmann, Carsten, Brinkert, Florian, Cetiner, Metin, Gembruch, Ulrich ORCID: 0000-0001-8284-4669, Haffner, Dieter, Kemper, Markus, Koenig, Jens, Liebau, Max, Maier, Rolf Felix, Oh, Jun, Pape, Lars, Riechardt, Silke, Rolle, Udo ORCID: 0000-0002-1268-6092, Rossi, Rainer, Stegmann, Joachim, Vester, Udo, von Kaisenberg, Constantin, Weber, Stefanie and Schaefer, Franz (2020). Kidney Cysts and Cystic Nephropathies in Children - A Consensus Guideline by 10 German Medical Societies. Klinische Padiatr., 232 (5). S. 228 - 249. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-3824

Koenig, Jens Christian, Karsay, Rebeka, Gerss, Joachim, Schlingmann, Karl-Peter, Dahmer-Heath, Mareike, Telgmann, Anna-Katharina, Kollmann, Sabine, Ariceta, Gema, Gillion, Valentine, Bockenhauer, Detlef, Bertholet-Thomas, Aurelia, Mastrangelo, Antonio, Boyer, Olivia, Lilien, Marc, Decramer, Stephane, Schanstra, Joost P., Pohl, Martin, Schild, Raphael, Weber, Stefanie, Hoefele, Julia, Drube, Jens, Cetiner, Metin, Hansen, Matthias, Thumfart, Julia, Toenshoff, Burkhard, Habbig, Sandra, Liebau, Max Christoph ORCID: 0000-0003-0494-9080, Bald, Martin, Bergmann, Carsten, Pennekamp, Petra and Konrad, Martin (2022). Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis. Kidney Int. Rep., 7 (9). S. 2016 - 2029. NEW YORK: ELSEVIER SCIENCE INC. ISSN 2468-0249

Kohl, Stefan, Avni, Fred E., Boor, Peter, Capone, Valentina, Clapp, William L., De Palma, Diego, Harris, Tess, Heidet, Laurence, Hilger, Alina C., Liapis, Helen, Lilien, Marc, Manzoni, Gianantonio, Montini, Giovanni, Negrisolo, Susanna ORCID: 0000-0002-2229-1502, Pierrat, Marie-Jeanne, Raes, Ann ORCID: 0000-0001-7809-2505, Reutter, Heiko, Schreuder, Michiel F., Weber, Stefanie, Winyard, Paul J. D., Woolf, Adrian S., Schaefer, Franz and Liebau, Max C. (2022). Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations. Nephrol. Dial. Transplant., 37 (12). S. 2351 - 2363. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2385

Kolvenbach, Caroline M., Dworschak, Gabriel C., Frese, Sandra, Japp, Anna S., Schuster, Peggy, Wenzlitschke, Nina, Yilmaz, Oeznur, Lopes, Filipa M., Pryalukhin, Alexey, Schierbaum, Luca, van der Zanden, Loes F. M., Kause, Franziska, Schneider, Ronen, Taranta-Janusz, Katarzyna ORCID: 0000-0002-8762-8866, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Pawlaczyk, Krzysztof, Newman, William G., Beaman, Glenda M., Stuart, Helen M., Cervellione, Raimondo M., Feitz, Wouter F. J., van Rooij, Iris A. L. M., Schreuder, Michiel F., Steffens, Martijn, Weber, Stefanie, Merz, Waltraut M., Feldkoetter, Markus, Hoppe, Bernd, Thiele, Holger, Altmueller, Janine, Berg, Christoph, Kristiansen, Glen, Ludwig, Michael, Reutter, Heiko, Woolf, Adrian S., Hildebrandt, Friedhelm, Grote, Phillip, Zaniew, Marcin, Odermatt, Benjamin and Hilger, Alina C. (2019). Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. Am. J. Hum. Genet., 104 (5). S. 994 - 1007. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Kolvenbach, Caroline M., Frese, Sandra K., Dworschak, Gabriel C., Japp, Anna, Schmidt, Johanna M., Zaniew, Martin, Newman, William, Beaman, Glenda, Stuart, Helen, Woolf, Adrian S. ORCID: 0000-0001-5541-1358, Cervellione, Raimondo, Roesch, Wolfgang, Weber, Stefanie, Merz, Waldtraut, Hildebrandt, Friedhelm, Feldkoetter, Markus, Hoppe, Bernd, Thiele, Holger, Altmueller, Lanine, Berg, Christoph, Ludwig, Michael, Grote, Philipp, Renner, Heiko, Odermatt, Benjamin and Hilger, Alina C. (2018). MUTATIONS IN BNC2 LEAD TO AUTOSOMAL-DOMINANT LOWER URINARY TRACT OBSTRUCTION (LUTO). Pediatr. Nephrol., 33 (10). S. 1809 - 1811. NEW YORK: SPRINGER. ISSN 1432-198X

Okorn, Christine, Goertz, Anne, Vester, Udo, Beck, Bodo B., Bergmann, Carsten, Habbig, Sandra, Koenig, Jens, Konrad, Martin, Mueller, Dominik, Oh, Jun, Ortiz-Bruechle, Nadina, Patzer, Ludwig, Schild, Raphael, Seeman, Tomas, Staudeu, Hagen, Thumfart, Julia ORCID: 0000-0003-1162-5295, Toenshoff, Burkhard, Walden, Ulrike, Weber, Lutz, Zaniew, Marcin, Zappel, Hildegard, Hoyer, Peter F. and Weber, Stefanie (2019). HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry. Pediatr. Nephrol., 34 (6). S. 1065 - 1076. NEW YORK: SPRINGER. ISSN 1432-198X

Prytula, Agnieszka ORCID: 0000-0001-9551-8758, Shroff, Rukshana ORCID: 0000-0001-8501-1072, Krupka, Kai, Deschepper, Ellen, Bacchetta, Justine, Ariceta, Gema, Awan, Atif ORCID: 0000-0002-1615-2602, Benetti, Elisa, Buescher, Anja, Berta, Laszlo, Carraro, Andrea, Christian, Martin, Dello Strologo, Luca, Doerry, Katja, Haumann, Sophie, Klaus, Guenter, Kempf, Caroline, Kranz, Birgitta, Oh, Jun, Pape, Lars, Pohl, Martin, Printza, Nikoleta, Rubik, Jacek, Schmitt, Claus Peter, Shenoy, Mohan, Sparta, Giuseppina, Staude, Hagen, Sweeney, Clodagh, Weber, Lutz, Weber, Stefanie, Weitz, Marcus, Haffner, Dieter and Toenshoff, Burkhard (2022). Hyperparathyroidism Is an Independent Risk Factor for Allograft Dysfunction in Pediatric Kidney Transplantation. Kidney Int. Rep., 8 (1). S. 81 - 91. NEW YORK: ELSEVIER SCIENCE INC. ISSN 2468-0249

Riehle, Marc, Buescher, Anja K., Gohlke, Bjoern-Oliver, Kassmann, Mario, Kolatsi-Joannou, Maria, Braesen, Jan H., Nagel, Mato, Becker, Jan U., Winyard, Paul, Hoyer, Peter F., Preissner, Robert, Krautwurst, Dietmar, Gollasch, Maik, Weber, Stefanie and Harteneck, Christian (2016). TRPC6 G757D Loss-of-Function Mutation Associates with FSGS. J. Am. Soc. Nephrol., 27 (9). S. 2771 - 2784. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1533-3450

Weber, Stefanie, Buescher, Anja K., Hagmann, Henning, Liebau, Max C., Heberle, Christian, Ludwig, Michael, Rath, Sabine, Alberer, Martin, Beissert, Antje, Zenker, Martin, Hoyer, Peter F., Konrad, Martin, Klein, Hanns-Georg and Hoefele, Julia ORCID: 0000-0002-7917-7129 (2016). Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing. Pediatr. Nephrol., 31 (1). S. 73 - 82. NEW YORK: SPRINGER. ISSN 1432-198X

Weber, Stefanie, Hakobyan, Astghik, Zakaryan, Hovakim and Doerfler, Walter (2018). Intracellular African swine fever virus DNA remains unmethylated in infected Vero cells. Epigenomics, 10 (3). S. 289 - 300. LONDON: FUTURE MEDICINE LTD. ISSN 1750-192X

Weber, Stefanie, Hofmann, Andrea, Herms, Stefan ORCID: 0000-0002-2786-8200, Hoffmann, Per and Doerfler, Walter (2015). Destabilization of the human epigenome: consequences of foreign DNA insertions. Epigenomics, 7 (5). S. 745 - 756. LONDON: FUTURE MEDICINE LTD. ISSN 1750-192X

Weber, Stefanie, Jung, Susan and Doerfler, Walter (2016). DNA methylation and transcription in HERV (K, W, E) and LINE sequences remain unchanged upon foreign DNA insertions. Epigenomics, 8 (2). S. 157 - 166. LONDON: FUTURE MEDICINE LTD. ISSN 1750-192X

Weber, Stefanie, Ramirez, Christina and Doerfler, Walter (2020). Signal hotspot mutations in SARS-CoV-2 genomes evolve as the virus spreads and actively replicates in different parts of the world. Virus Res., 289. AMSTERDAM: ELSEVIER. ISSN 1872-7492

Weber, Stefanie, Ramirez, Christina M. and Doerfler, Walter ORCID: 0000-0002-9971-0138 (2022). Ubiquitous Micro-Modular Homologies among Genomes from Viruses to Bacteria to Human Mitochondrial DNA: Platforms for Recombination during Evolution? Viruses-Basel, 14 (5). BASEL: MDPI. ISSN 1999-4915

Weber, Stefanie, Ramirez, Christina M., Weiser, Barbara, Burger, Harold and Doerfler, Walter (2021). SARS-CoV-2 worldwide replication drives rapid rise and selection of mutations across the viral genome: a time-course study - potential challenge for vaccines and therapies. EMBO Mol. Med., 13 (6). HOBOKEN: WILEY. ISSN 1757-4684

Weber, Stefanie, Strasser, Katja, Rath, Sabine, Kittke, Achim, Beicht, Sonja, Alberer, Martin, Lange-Sperandio, Baerbel, Hoyer, Peter F., Benz, Marcus R., Ponsel, Sabine, Weber, Lutz T., Klein, Hanns-Georg and Hoefele, Julia ORCID: 0000-0002-7917-7129 (2016). Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy. Pediatr. Nephrol., 31 (6). S. 941 - 956. NEW YORK: SPRINGER. ISSN 1432-198X

Weber, Stefanie, Thiele, Holger, Mir, Sevgi, Toliat, Mohammad Reza, Sozeri, Betuel, Reutter, Heiko, Draaken, Markus ORCID: 0000-0002-4546-0786, Ludwig, Michael, Altmueller, Janine, Frommolt, Peter ORCID: 0000-0002-1966-8014, Stuart, Helen M., Ranjzad, Parisa ORCID: 0000-0001-7413-4157, Hanley, Neil A., Jennings, Rachel, Newman, William G., Wilcox, Duncan T., Thiel, Uwe, Schlingmann, Karl Peter, Beetz, Rolf, Hoyer, Peter F., Konrad, Martin, Schaefer, Franz, Nuernberg, Peter and Woolf, Adrian S. ORCID: 0000-0001-5541-1358 (2011). Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. Am. J. Hum. Genet., 89 (5). S. 668 - 675. CAMBRIDGE: CELL PRESS. ISSN 0002-9297

Weber, Stefanie, Weiser, Barbara, Kemal, Kimdar S., Burger, Harold, Ramirez, Christina M., Korn, Klaus ORCID: 0000-0003-1891-2107, Anastos, Kathryn, Kaul, Rupert ORCID: 0000-0002-1586-4093, Kovacs, Colin and Doerfler, Walter (2014). Epigenetic analysis of HIV-1 proviral genomes from infected individuals: Predominance of unmethylated CpG's. Virology, 449. S. 181 - 190. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE. ISSN 0042-6822

Thesis

Weber, Stefanie (2013). Fremde DNA im menschlichen Genom: Konsequenzen für das Wirts- und das Fremdgenom. PhD thesis, Universität zu Köln.

This list was generated on Fri Mar 29 05:44:35 2024 CET.