Universität zu Köln

2021

Burgmaier, Kathrin, Brinker, Leonie, Erger, Florian, Beck, Bodo B., Benz, Marcus R., Bergmann, Carsten, Boyer, Olivia, Collard, Laure, Dafinger, Claudia, Fila, Marc, Kowalewska, Claudia, Lange-Sperandio, Baerbel, Massella, Laura, Mastrangelo, Antonio, Mekahli, Djalila, Miklaszewska, Monika, Ortiz-Bruechle, Nadina, Patzer, Ludwig, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Schild, Raphael, Seeman, Tomas, Sever, Lale, Sikora, Przemyslaw ORCID: 0000-0002-5698-6863, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Teixeira, Ana, Thumfart, Julia, Uetz, Barbara, Weber, Lutz Thorsten, Wuehl, Elke, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2021). Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants. Kidney Int., 100 (3). S. 650 - 660. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

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

Weng, Patricia L., Majmundar, Amar J., Khan, Kamal, Lim, Tze Y., Shril, Shirlee, Jin, Gina, Musgrove, John, Wang, Minxian, Ahram, Dina F., Aggarwal, Vimla S., Bier, Louise E., Heinzen, Erin L., Onuchic-Whitford, Ana C., Mann, Nina, Buerger, Florian, Schneider, Ronen, Deutsch, Konstantin ORCID: 0000-0003-2952-5030, Kitzler, Thomas M., Klambt, Verena ORCID: 0000-0003-1180-0794, Kolb, Amy, Mao, Youying, El Achkar, Christelle Moufawad, Mitrotti, Adele, Martino, Jeremiah, Beck, Bodo B., Altmuller, Janine ORCID: 0000-0003-4372-1521, Benz, Marcus R., Yano, Shoji, Mikati, Mohamad A., Gunduz, Talha, Cope, Heidi ORCID: 0000-0003-0586-9277, Shashi, Vandana, Trachtman, Howard ORCID: 0000-0001-7447-9489, Bodria, Monica, Caridi, Gianluca ORCID: 0000-0001-6700-3001, Pisani, Isabella, Fiaccadori, Enrico, AbuMaziad, Asmaa S., Martinez-Agosto, Julian A., Yadin, Ora, Zuckerman, Jonathan, Kim, Arang, John-Kroegel, Ulrike, Tyndall, Amanda, V, Parboosingh, Jillian S., Innes, A. Micheil, Bierzynska, Agnieszka ORCID: 0000-0002-7878-6096, Koziell, Ania B., Muorah, Mordi, Saleem, Moin A., Hoefele, Julia ORCID: 0000-0002-7917-7129, Riedhammer, Korbinian M., Gharavi, Ali G., Jobanputra, Vaidehi, Pierce-Hoffman, Emma, Seaby, Eleanor G., O'Donnell-Luria, Anne ORCID: 0000-0001-6418-9592, Rehm, Heidi L., Mane, Shrikant, D'Agati, Vivette D., Pollak, Martin R., Ghiggeri, Gian Marco, Lifton, Richard P., Goldstein, David B., Davis, Erica E., Hildebrandt, Friedhelm and Sanna-Cherchi, Simone (2021). De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am. J. Hum. Genet., 108 (2). S. 357 - 368. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

2019

Benz, Marcus R., Ehren, Rasmus, Kleinert, Daniela, Mueller, Carsten, Gellermann, Jutta, Fehrenbach, Henry, Schmidt, Heinrich and Weber, Lutz T. (2019). Generation and Validation of a Limited Sampling Strategy to Monitor Mycophenolic Acid Exposure in Children With Nephrotic Syndrome. Ther. Drug Monit., 41 (6). S. 696 - 703. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1536-3694

2018

Ehren, Rasmus, Benz, Marcus R., Doetsch, Jorg, Fichtner, Alexander, Gellermann, Jutta, Haffner, Dieter, Hocker, Britta, Hoyer, Peter F., Kaestner, Baerbel, Kemper, Markus J., Konrad, Martin, Luntz, Steffen, Querfeld, Uwe, Sander, Anja, Toenshoff, Burkhard and Weber, Lutz T. (2018). Initial treatment of steroid-sensitive idiopathic nephrotic syndrome in children with mycophenolate mofetil versus prednisone: protocol for a randomised, controlled, multicentre trial (INTENT study). BMJ Open, 8 (10). LONDON: BMJ PUBLISHING GROUP. ISSN 2044-6055

2017

Alberer, Martin, Hoefele, Julia ORCID: 0000-0002-7917-7129, Benz, Marcus R., Bokenkamp, Arend and Weber, Lutz T. (2017). No Impact of the Analytical Method used for Determing Cystatin C on Estimating lomerular Filtration Rate in Children. Front. Pediatr., 5. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2296-2360

2016

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

2014

Benz, Marcus R., Doetsch, Joerg, Ehren, Rasmus, Gellermann, Jutta, Haffner, Dieter, Hoyer, Peter F., Kemper, Markus J., Konrad, Martin, Querfeld, Uwe, Toenshoff, Burkhard and Weber, Lutz T. (2014). Protocol Of An Open, Randomized, Controlled, Multicenter Trial On The Initial Treatment Of Idiopathic Steroid-sensitive Nephrotic Syndrome In Children With Mycophenolate Mofetil Vs. Prednisone: The Intent Study. Pediatr. Nephrol., 29 (9). S. 1740 - 1741. NEW YORK: SPRINGER. ISSN 1432-198X

2011

Bergmann, Carsten, von Bothmer, Jennifer, Bruechle, Nadina Ortiz, Venghaus, Andreas, Frank, Valeska, Fehrenbach, Henry, Hampel, Tobias, Pape, Lars ORCID: 0000-0002-3635-6418, Buske, Annegret, Jonsson, Jon, Sarioglu, Nanette, Santos, Antonia, Ferreira, Jose Carlos, Becker, Jan U., Cremer, Reinhold, Hoefele, Julia ORCID: 0000-0002-7917-7129, Benz, Marcus R., Weber, Lutz T., Buettner, Reinhard and Zerres, Klaus (2011). Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease. J. Am. Soc. Nephrol., 22 (11). S. 2047 - 2057. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1046-6673