Universität zu Köln

Journal Article

Burgmaier, Kathrin, Kunzmann, Kevin, Ariceta, Gema, Bergmann, Carsten, Buescher, Anja Katrin, Burgmaier, Mathias, Dursun, Ismail, Duzova, Ali, Eid, Loai, Erger, Florian ORCID: 0000-0002-2768-1702, Feldkoetter, Markus, Galiano, Matthias, Gessner, Michaela, Goebel, Heike, Gokce, Ibrahim ORCID: 0000-0002-6896-5162, Haffner, Dieter, Hooman, Nakysa, Hoppe, Bernd, Jankauskiene, Augustina, Klaus, Guenter, Koenig, Jens, Litwin, Mieczyslaw ORCID: 0000-0002-5241-2483, Massella, Laura, Mekahli, Djalila ORCID: 0000-0003-0954-6088, Melek, Engin, Mir, Sevgi, Pape, Lars, Prikhodina, Larisa ORCID: 0000-0002-0702-4932, Ranchin, Bruno, Schild, Raphael, Seeman, Tomas, Sever, Late, Shroff, Rukshana, Soliman, Neveen A., Stabouli, Stella, Stanczyk, Malgorzata ORCID: 0000-0001-6613-1642, Tabel, Yilmaz, Taranta-Janusz, Katarzyna ORCID: 0000-0002-8762-8866, Testa, Sara, Thumfart, Julia ORCID: 0000-0003-1162-5295, Topaloglu, Rezan, Weber, Lutz Thorsten, Wicher, Dorota ORCID: 0000-0002-8360-0006, Wuehl, Elke, Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2018). Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease. J. Pediatr., 199. S. 22 - 35. NEW YORK: MOSBY-ELSEVIER. ISSN 1097-6833

De Rechter, Stephanie, Kringen, Jonathan, Janssens, Peter, Liebau, Max Christoph, Devriendt, Koenraad, Levtchenko, Elena, Bergmann, Carsten, Jouret, Francois, Bammens, Bert ORCID: 0000-0002-2477-2633, Borry, Pascal, Schaefer, Franz and Mekahli, Djalila (2017). CAREGIVERS' ATTITUDE TOWARDS FAMILY PLANNING AND TIMING OF DIAGNOSIS IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE. Pediatr. Nephrol., 32 (9). S. 1757 - 1759. NEW YORK: SPRINGER. ISSN 1432-198X

De Rechter, Stephanie, Kringen, Jonathan, Janssens, Peter, Liebau, Max Christoph ORCID: 0000-0003-0494-9080, Devriendt, Koenraad, Levtchenko, Elena, Bergmann, Carsten, Jouret, Francois, Bammens, Bert ORCID: 0000-0002-2477-2633, Borry, Pascal ORCID: 0000-0002-4931-9560, Schaefer, Franz and Mekahli, Djalila ORCID: 0000-0003-0954-6088 (2017). Clinicians' attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease. PLoS One, 12 (9). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Ebner, Kathrin, Feldkoetter, Markus, Ariceta, Gema, Bergmann, Carsten, Buettner, Reinhard, Doyon, Anke, Dursun, Ismail, Duzova, Ali, Galiano, Matthias, Gessner, Michaela, Goebel, Heike, Goekce, Ibrahim, Haffner, Dieter, Hero, Barbara, Hoppe, Bernd, Illig, Thomas, Jankauskiene, Augustina, Klopp, Norman, Koenig, Jens, Kunzmann, Kevin, Litwin, Mieczyslaw ORCID: 0000-0002-5241-2483, Massella, Laura, Mekahli, Djalila, Melek, Engin, Miklaszewska, Monika, Ranchin, Bruno, Sander, Anja, Shroff, Rukshana, Testa, Sara, Weber, Lutz Thorsten, Wicher, Dorota, Yuzbasioglu, Ayse, Zachwieja, Katarzyna, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph (2017). CHARACTERIZATION OF POTENTIAL RISK MARKERS OF THE RENAL ARPKD PHENOTYPE. Pediatr. Nephrol., 32 (9). S. 1768 - 1770. NEW YORK: SPRINGER. ISSN 1432-198X

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

Habbig, Sandra, Bergmann, Carsten and Weber, Lutz T. (2016). Discontinuation of Eculizumab in a Patient With Atypical Hemolytic Uremic Syndrome Due to a Mutation in CFH. Am. J. Kidney Dis., 67 (3). S. 532 - 536. PHILADELPHIA: W B SAUNDERS CO-ELSEVIER INC. ISSN 1523-6838

Haumann, Sophie, Burgmaier, Kathrin, Bergmann, Carsten, Mueller, Roman Ulrich and Liebau, Max C. (2018). Hereditary cystic kidney diseases: autosomal dominant and autosomal recessive polycystic kidney disease (ADPKD and ARPKD). Med. Genet., 30 (4). S. 422 - 429. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1863-5490

Khan, Arif O., Al Rashaed, Saba, Neuhaus, Christine, Bergmann, Carsten and Bolz, Hanno J. (2016). Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation. Br. J. Ophthalmol., 100 (2). S. 209 - 216. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-2079

Khan, Arif O., Decker, Eva, Bachmann, Nadine, Bolz, Hanno J. and Bergmann, Carsten (2016). C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. Ophthalmic Genet., 37 (3). S. 290 - 294. PHILADELPHIA: TAYLOR & FRANCIS INC. ISSN 1744-5094

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

Pauli, Silke, Altmueller, Janine, Schroeder, Simone, Ohlenbusch, Andreas, Dreha-Kulaczewski, Steffi, Bergmann, Carsten, Nuernberg, Peter, Thiele, Holger, Li, Yun, Wollnik, Bernd and Brockmann, Knut (2019). Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. J. Med. Genet., 56 (4). S. 261 - 265. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Rinschen, Markus M., Goedel, Markus, Grahammer, Florian, Zschiedrich, Stefan, Helmstaedter, Martin, Kretz, Oliver, Zarei, Mostafa, Braun, Daniela A., Dittrich, Sebastian, Pahmeyer, Caroline, Schroder, Patricia, Teetzen, Carolin, Gee, HeonYung, Daouk, Ghaleb, Pohl, Martin, Kuhn, Elisa, Schermer, Bernhard ORCID: 0000-0002-5194-9000, Kuettner, Victoria, Boerries, Melanie, Busch, Hauke ORCID: 0000-0003-4763-4521, Schiffer, Mario ORCID: 0000-0002-8414-1470, Bergmann, Carsten, Krueger, Marcus, Hildebrandt, Friedhelm, Dengjel, Joern ORCID: 0000-0002-9453-4614, Benzing, Thomas and Huber, Tobias B. ORCID: 0000-0001-7175-5062 (2018). A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes. Cell Reports, 23 (8). S. 2495 - 2509. CAMBRIDGE: CELL PRESS. ISSN 2211-1247