Universität zu Köln

Journal Article

Azukaitis, Karolis, Ju, Wenjun, Kirchner, Marietta, Nair, Viji, Smith, Michelle, Fang, Zhiyin, Thurn-Valsassina, Daniela, Bayazit, Aysun, Niemirska, Anna, Canpolat, Nur ORCID: 0000-0002-3420-9756, Bulut, Ipek Kaplan, Yalcinkaya, Fatos, Paripovic, Dusan, Harambat, Jerome ORCID: 0000-0003-2016-120X, Cakar, Nilgun ORCID: 0000-0002-1853-0101, Alpay, Harika, Lugani, Francesca, Mencarelli, Francesca, Civilibal, Mahmut, Erdogan, Hakan, Gellermann, Jutta, Vidal, Enrico, Tabel, Yilmaz, Gimpel, Charlotte, Ertan, Pelin, Yavascan, Onder, Melk, Anette, Querfeld, Uwe, Wuehl, Elke, Kretzler, Matthias, Schaefer, Franz, Arbeiter, Klaus, Rosales, Alejandra, Dusek, Jiri, Zaloszyc, Ariane, Querfeld, Uwe, Gellermann, Jutta, Liebau, Max, Weber, Lutz, Muschiol, Evelin, Buescher, Rainer, Oh, Jun, Melk, Anette, Thurn-Valassina, Daniela, Haffner, Dieter, Schaefer, Franz, Gimpel, Charlotte, John, Ulrike, Wygoda, Simone, Jeck, Nikola, Wigger, Marianne, Testa, Sara, Murer, Luisa, Matteucci, Chiara, Jankauskiene, Augustina, Azukaitis, Karolis, Drozdz, Dorota, Lugani, Francesca, Zurowska, Aleksandra, Zaniew, Marcin, Litwin, Mieczyslaw ORCID: 0000-0002-5241-2483, Nimierska, Anna, Teixeira, Ana, Peco-Antic, Amira, Paripovic, Dusan, Laube, Guido, Dali, Cocuk Nefrolojisi Bilim, Anarat, Ali, Bayazit, Aysun, Duzova, Ali, Bilginer, Yelda, Caliskan, Salim ORCID: 0000-0002-3316-8032, Canpolat, Nur ORCID: 0000-0002-3420-9756, Civilibal, Mahmut, Mir, Sevgi, Soezeri, Betul, Kranz, Brigitta, Mencarelli, Francesca, Dorn, Brigitte, Yalcinkaya, Fatos, Baskin, Esra, Cakar, Nilgun ORCID: 0000-0002-1853-0101, Soylemezoglu, Oguz, Emre, Sevinc, Candan, Cengiz, Kiyak, Aysel, Ozcelik, Gul, Alpay, Harika, Shroff, Rukshana, Rachin, Bruno, Harambat, Jerome ORCID: 0000-0003-2016-120X, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Erdogan, Hakan, Donmez, Osman, Balat, Ayse, Aksu, Nejat, Tabel, Yilmaz, Ertan, Pelin, Yilmaz, Ebru, Anarat, Ali, Bakkaloglu, Aysin, Ozaltin, Fatih, Peco-Antic, Amira, Querfeld, Uwe, Gellermann, Jutta, Sallay, Peter, Drozdz, Dorota, Bonzel, Klaus-Eugen, Wingen, Anna-Margrete, Urowska, Aleksandra Z., Balasz, Irena, Trivelli, Antonella, Perfumo, Francesco, Mueller-Wiefel, Dirk-Erhard, Moeller, Kerstin, Offner, Gisela, Enke, Barbara, Wuehl, Elke, Hadtstein, Charlotte, Mehls, Otto, Schaefer, Franz, Emre, Sevinc, Caliskan, Salim ORCID: 0000-0002-3316-8032, Mir, Sevgi, Wygoda, Simone, Hohbach-Hohenfellner, Katharina, Jeck, Nickola, Klaus, Guenter, Ardissino, Gianluigi, Testa, Sara, Montini, Giovanni ORCID: 0000-0002-7350-4475, Charbit, Marina, Niaudet, Patrick, Afonso, Alberto Caldas, Fernandes-Teixeira, Ana, Dusek, Jiri, Matteucci, Chiara, Picca, Stefano, Wigger, Marianne, Berg, Ulla B., Celsi, Giovanni, Fischbach, Michel, Terzic, Joelle, Fydryk, Janusz, Urasinski, Tomasz, Coppo, Rosanna, Peruzzi, Licia, Arbeiter, Klaus, Jankauskiene, Augustina, Grenda, Ryszard, Litwin, Mieczyslaw ORCID: 0000-0002-5241-2483 and Neuhaus, Thomas J. (2019). Low levels of urinary epidermal growth factor predict chronic kidney disease progression in children. Kidney Int., 96 (1). S. 214 - 222. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

Kolbuc, Marcin, Bienias, Beata, Habbig, Sandra, Kolek, Mateusz F., Szczepanska, Maria ORCID: 0000-0002-6772-1983, Kilis-Pstrusinska, Katarzyna ORCID: 0000-0001-7352-6992, Wasilewska, Anna, Adamczyk, Piotr, Motyka, Rafal, Tkaczyk, Marcin ORCID: 0000-0003-1753-7560, Sikora, Przemyslaw ORCID: 0000-0002-5698-6863, Beck, Bodo B. and Zaniew, Marcin (2021). Hyperuricemia Is an Early and Relatively Common Feature in Children with HNF1B Nephropathy but Its Utility as a Predictor of the Disease Is Limited. J. Clin. Med., 10 (15). BASEL: MDPI. ISSN 2077-0383

Kolbuc, Marcin, Lessmeier, Lennart, Salamon-Slowinska, Dorota, Malecka, Ilona, Pawlaczyk, Krzysztof, Walkowiak, Jaroslaw, Wysocki, Jacek, Beck, Bodo B. and Zaniew, Marcin (2020). Hypomagnesemia is underestimated in children with HNF1B mutations. Pediatr. Nephrol., 35 (10). S. 1877 - 1887. NEW YORK: SPRINGER. ISSN 1432-198X

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., Felger, Tim, Schierbaum, Luca, Thiffault, Isabelle, Pastinen, Tomi, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Zaniew, Marcin, Adamczyk, Piotr ORCID: 0000-0001-9557-221X, Bayat, Allan ORCID: 0000-0003-4986-8006, Yilmaz, Oeznur, Lindenberg, Tobias T., Thiele, Holger, Hildebrandt, Friedhelm, Hinderhofer, Katrin, Moog, Ute, Hilger, Alina C., Sullivan, Bonnie, Bartik, Lauren, Gnys, Piotr, Grote, Phillip, Odermatt, Benjamin, Reutter, Heiko M. and Dworschak, Gabriel C. . X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems. J. Med. Genet.. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Lopez-Garcia, Sergio Camilo, Emma, Francesco, Walsh, Stephen B., Fila, Marc, Hooman, Nakysa, Zaniew, Marcin, Bertholet-Thomas, Aurelia, Colussi, Giacomo ORCID: 0000-0001-6133-1899, Burgmaier, Kathrin, Levtchenko, Elena, Sharma, Jyoti, Singhal, Jyoti, Soliman, Neveen A., Ariceta, Gema, Basu, Biswanath, Murer, Luisa, Tasic, Velibor, Tsygin, Alexey, Decramer, Stephane ORCID: 0000-0001-6984-762X, Gil-Pena, Helena, Koster-Kamphuis, Linda ORCID: 0000-0002-9971-995X, La Scola, Claudio ORCID: 0000-0002-2644-7447, Gellermann, Jutta, Konrad, Martin, Lilien, Marc, Francisco, Telma, Tramma, Despoina, Trnka, Peter ORCID: 0000-0002-5584-2622, Yuksel, Selcuk, Caruso, Maria Rosa, Chromek, Milan, Ekinci, Zelal, Gambaro, Giovanni, Kari, Jameela A., Koenig, Jens, Taroni, Francesca, Thumfart, Julia ORCID: 0000-0003-1162-5295, Trepiccione, Francesco, Winding, Louise, Wuehl, Elke, Agbas, Ayse ORCID: 0000-0002-3658-8622, Belkevich, Anna, Vargas-Poussou, Rosa ORCID: 0000-0002-4169-0680, Blanchard, Anne, Conti, Giovanni, Boyer, Olivia ORCID: 0000-0002-3957-1359, Dursun, Ismail, Pinarbasi, Ayse Seda, Melek, Engin, Miglinas, Marius, Novo, Robert, Mallett, Andrew, Milosevic, Danko, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Wente, Sarah, Cheong, Hae Il, Sinha, Rajiv, Gucev, Zoran, Dufek, Stephanie ORCID: 0000-0002-6323-6673, Iancu, Daniela, Kleta, Robert, Schaefer, Franz, Bockenhauer, Detlef ORCID: 0000-0001-5878-941X, Peco-Antic, Amira, Kaur, Amrit, Paglialunga, Antonino, Servais, Aude, Lutovac, Branko, Hoorn, Ewout J., Shasha-Lavsky, Hadas, Harambat, Jerome, Godron-Dubrasquet, Astrid, Buder, Kathrin, Allard, Lise, Patzer, Ludwig, Shumikhina, Marina, Hansen, Matthias, Printza, Nikoleta, Kucuk, Nuran, Beringer, Ortraud, Bhimma, Rajendra ORCID: 0000-0003-3092-7790, Cerkauskiene, Rimante, Klinikos, Santaros, Neuhaus, Thomas J., Stavileci, Valbona, Ulinski, Tim, Dincel, Nida Temizkan and Mohebbi, Nilufar (2019). Treatment and long-term outcome in primary distal renal tubular acidosis. Nephrol. Dial. Transplant., 34 (6). S. 981 - 992. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2385

Martin-Higueras, Cristina ORCID: 0000-0003-1139-4642, Garrelfs, Sander F., Groothoff, Jaap W., Jacob, Dorrit E., Moochhala, Shabbir H., Bacchetta, Justine, Acquaviva, Cecile, Zaniew, Marcin, Sikora, Przymyslaw, Beck, Bodo B. and Hoppe, Bernd (2021). A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3. Kidney Int., 100 (3). S. 621 - 636. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

Motyka, Rafal, Kolbuc, Marcin, Wierzcholowski, Wojciech, Beck, Bodo B., Towpik, Iwona Ewa and Zaniew, Marcin (2021). Four Cases of Maturity Onset Diabetes of the Young (MODY) Type 5 Associated with Mutations in the Hepatocyte Nuclear Factor 1 Beta (HNF1B) Gene Presenting in a 13-Year-Old Boy and in Adult Men Aged 33, 34, and 35 Years in Poland. Am. J. Case Rep., 22. MELVILLE: INT SCIENTIFIC INFORMATION, INC. ISSN 1941-5923

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

Sikora, Przemyslaw, Grenda, Ryszard, Kowalczyk, Malgorzata, Kiec-Wilk, Beata, Bienias, Beata, Rubik, Jacek, Szymczak, Maciej ORCID: 0000-0002-1248-081X, Nosek, Hanna, Surowiec, Paulina, Marquardt, Thorsten, Beck, Bodo B. and Zaniew, Marcin . Nephropathic cystinosis in Poland a 40-year retrospective study. Pol. Intern. Med.. KRAKOW: MEDYCYNA PRAKTYCZNA SP K SP ZOO. ISSN 1897-9483

Sikora, Przemyslaw, Grenda, Ryszard, Kowalczyk, Malgorzata, Kiec-Wilk, Beata, Bienias, Beata, Rubik, Jacek, Szymczak, Maciej ORCID: 0000-0002-1248-081X, Nosek, Hanna, Surowiec, Paulina, Marquardt, Thorsten, Beck, Bodo B. and Zaniew, Marcin (2022). Nephropathic cystinosis in Poland: a 40-year retrospective study. Pol. Intern. Med., 132 (11). KRAKOW: MEDYCYNA PRAKTYCZNA SP K SP ZOO. ISSN 1897-9483

Sikora, Przemyslaw, Zaniew, Marcin, Grenda, Ryszard, Jobs, Katarzyna, Rubik, Jacek, Zawadzki, Jan, Myslak, Marek, Durlik, Magdalena, Erger, Florian, Bienias, Beata, Hoppe, Bernd and Beck, Bodo B. (2020). Still diagnosed too late and under-recognized? The first comprehensive report on primary hyperoxaluria in Poland. Pol. Intern. Med., 130 (12). S. 1053 - 1064. KRAKOW: MEDYCYNA PRAKTYCZNA SP K SP ZOO. ISSN 1897-9483

Tkaczyk, Marcin ORCID: 0000-0003-1753-7560, Gadomska-Prokop, Katarzyna, Zaluska-Lesniewska, Iga, Musial, Kinga ORCID: 0000-0002-9000-7585, Zawadzki, Jan, Jobs, Katarzyna ORCID: 0000-0002-8616-2347, Porowski, Tadeusz, Rogowska-Kalisz, Anna, Jander, Anna ORCID: 0000-0003-1363-091X, Kirolos, Meritrafat, Halinski, Adam ORCID: 0000-0002-0579-8723, Krzemien, Aleksandra, Sobieszczanska-Drozdziel, Agnieszka, Zachwieja, Katarzyna, Beck, Bodo B., Sikora, Przemyslaw ORCID: 0000-0002-5698-6863 and Zaniew, Marcin (2021). Clinical profile of a Polish cohort of children and young adults with cystinuria. Ren. Fail., 43 (1). S. 62 - 71. ABINGDON: TAYLOR & FRANCIS LTD. ISSN 1525-6049

Zaniew, Marcin, Moczulska, Anna ORCID: 0000-0002-8479-050X, Szezepanska, Maria, Mizerska-wasiak, Malgorzata, Rogowska-kalisz, Anna, Gadomskaprokop, Katarazyna, Wasilewska, Anna, Zawadziki, Jan, Pawlaczyk, Krzysztof ORCID: 0000-0001-6237-0814, Kiryluk, Krysztof, Vargas-poussou, Rosa, Bichet, Daniel, Beck, Bodo, Ludwig, Michael, Konrad, Martin and Sikora, Przemyslaw (2014). Genetic Registry Of Inherited Tubulopathies In Poland. Pediatr. Nephrol., 29 (9). S. 1672 - 1673. NEW YORK: SPRINGER. ISSN 1432-198X