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Journal Article

Verploegen, Maartje F. A., Vargas-Poussou, Rosa, Walsh, Stephen B., Alpay, Harika, Amouzegar, Atefeh, Ariceta, Gema, Atmis, Bahriye, Bacchetta, Justine, Barany, Peter, Baron, Stephanie ORCID: 0000-0002-0375-6968, Bayrakci, Umut Selda, Belge, Hendrica, Besouw, Martine, Blanchard, Anne, Bokenkamp, Arend, Boyer, Olivia, Burgmaier, Kathrin, Calo, Lorenzo A., Decramer, Stephane, Devuyst, Olivier ORCID: 0000-0003-3744-4767, van Dyck, Maria, Ferraro, Pietro Manuel, Fila, Marc, Francisco, Telma ORCID: 0000-0002-8232-6818, Ghiggeri, Gian Marco, Gondra, Leire, Guarino, Stefano, Hooman, Nakysa, Hoorn, Ewout J., Houillier, Pascal, Kamperis, Konstantinos ORCID: 0000-0003-0104-4884, Kari, Jameela A., Konrad, Martin, Levtchenko, Elena, Lucchetti, Laura, Lugani, Francesca, Marzuillo, Pierluigi ORCID: 0000-0003-4682-0170, Mohidin, Barian, Neuhaus, Thomas J., Osman, Abdaldafae, Papizh, Svetlana, Perello, Manel ORCID: 0000-0003-1859-5279, Rookmaaker, Maarten B., Conti, Valerie Said, Santos, Fernando, Sawaf, Ghalia, Serdaroglu, Erkin, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Taroni, Francesca, Topaloglu, Rezan, Trepiccione, Francesco, Vidal, Enrico, Wan, Elizabeth R., Weber, Lutz, Yildirim, Zeynep Yuruk, Yuksel, Selcuk, Zlatanova, Galia ORCID: 0009-0000-0731-9151, Bockenhauer, Detlef, Emma, Francesco ORCID: 0000-0002-0383-3468 and Nijenhuis, Tom ORCID: 0000-0002-4375-7236 (2022). Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study. Nephrol. Dial. Transplant., 37 (12). S. 2474 - 2487. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2385

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

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

Bonthuis, Marjolein, Vidal, Enrico ORCID: 0000-0003-3963-0803, Bjerre, Anna, Aydog, Ozlem, Baiko, Sergey, Garneata, Liliana, Guzzo, Isabella, Heaf, James G., Jahnukainen, Timo, Lilien, Marc, Mallett, Tamara, Mirescu, Gabriel, Mochanova, Elena A., Nuesken, Eva, Rascher, Katherine, Roussinov, Dimitar, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Tsimaratos, Michel ORCID: 0000-0001-6027-0721, Varvara, Askiti, Verrina, Enrico, Veselinovic, Bojana, Jager, Kitty J. and Harambat, Jerome (2021). Ten-year trends in epidemiology and outcomes of pediatric kidney replacement therapy in Europe: data from the ESPN/ERA-EDTA Registry. Pediatr. Nephrol., 36 (8). S. 2337 - 2349. NEW YORK: SPRINGER. ISSN 1432-198X

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

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

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

Lipska-Zietkiewicz, Beata S. ORCID: 0000-0002-4169-9685, Gellermann, Jutta, Boyer, Olivia ORCID: 0000-0002-3957-1359, Gribouval, Olivier ORCID: 0000-0003-0238-8224, Zietkiewicz, Szymon ORCID: 0000-0002-3435-4603, Kari, Jameela A., Shalaby, Mohamed A., Ozaltin, Fatih, Dusek, Jiri, Melk, Anette, Bayazit, Aysun K., Massella, Laura, Hyla-Klekot, Lidia, Habbig, Sandra, Godron, Astrid, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Bienias, Beata ORCID: 0000-0002-0176-9845, Drozdz, Dorota, Odeh, Rasha ORCID: 0000-0002-8419-0547, Jarmuzek, Wioletta ORCID: 0000-0002-9929-7486, Zachwieja, Katarzyna, Trautmann, Agnes, Antignac, Corinne and Schaefer, Franz (2017). Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia. PLoS One, 12 (8). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

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

This list was generated on Mon May 20 14:58:41 2024 CEST.