Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations von Sanna-Cherchi, Simone, Khan, Kamal, Westland, Rik, Krithivasan, Priya, Fievet, Lorraine, Rasouly, Hila Milo, Ionita-Laza, Iuliana, Capone, Valentina P., Fasel, David A., Kiryluk, Krzysztof, Kamalakaran, Sitharthan, Bodria, Monica, Otto, Edgar A., Sampson, Matthew G., Gillies, Christopher E., Vega-Warner, Virginia, Vukojevic, Katarina, Pediaditakis, Igor, Makar, Gabriel S., Mitrotti, Adele, Verbitsky, Miguel, Martino, Jeremiah, Liu, Qingxue, Na, Young-Ji, Goj, Vinicio, Ardissino, Gianluigi, Gigante, Maddalena, Gesualdo, Loreto, Janezcko, Magdalena, Zaniew, Marcin, Mendelsohn, Cathy Lee, Shril, Shirlee, Hildebrandt, Friedhelm, van Wijk, Joanna A.E., Arapovic, Adela, Saraga, Marijan, Allegri, Landino, Izzi, Claudia, Scolari, Francesco, Tasic, Velibor, Ghiggeri, Gian Marco, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Mane, Shrikant, Goldstein, David B., Lifton, Richard P., Katsanis, Nicholas, Davis, Erica E., Gharavi, Ali G.

Volltext

Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis von Banushi, Blerida, Forneris, Federico, Straatman-Iwanowska, Anna, Strange, Adam, Lyne, Anne-Marie, Rogerson, Clare, Burden, Jemima J., Heywood, Wendy E., Hanley, Joanna, Doykov, Ivan, Straatman, Kornelis R., Smith, Holly, Bem, Danai, Kriston-Vizi, Janos, Ariceta, Gema, Risteli, Maija, Wang, Chunguang, Ardill, Rosalyn E., Zaniew, Marcin, Latka-Grot, Julita, Waddington, Simon N., Howe, S. J., Ferraro, Francesco, Gjinovci, Asllan, Lawrence, Scott, Marsh, Mark, Girolami, Mark, Bozec, Laurent, Mills, Kevin, Gissen, Paul

Volltext

Accidentally detected nephrocalcinosis in a boy with a homozygous R396W mutation in the CYP24A1 gene – 7-year follow-up von Nowicki, Jakub Krzysztof, Maćkowska, Anna, Rychwalska, Małgorzata, Zaniew, Marcin, Jakubowska-Pietkiewicz, Elżbieta

Volltext

Use of broad-spectrum antibiotics in children diagnosed with multisystem inflammatory syndrome temporarily associated with SARS-CoV-2 infection in Poland: the MOIS-CoR study von Toczyłowski, Kacper, Łasecka-Zadrożna, Joanna, Pałyga-Bysiecka, Ilona, Ludwikowska, Kamila Maria, Okarska-Napierała, Magdalena, Dudek, Natalia, Afelt, Aneta, Suski, Catherine, Kursa, Miron Bartosz, Jackowska, Teresa, Kuchar, Ernest, Szenborn, Leszek, Sawicka, Marta, BerdejSzczot, Elżbieta, Brzuszkiewicz, Sebastian, Buda, Piotr, Czajka, Alicja, Czech, Agnieszka, Czerwińska, Ewa, Figlerowicz, Magdalena, FirekPędras, Małgorzata, Gawlik, Aneta, Gowin, Ewelina, Izdebska, Olga, JanuszkiewiczLewandowska, Danuta, Kiepuszka, Justyna, Koczwara, Agnieszka, Koszałko, Danuta, KośmiderŻurawska, Magdalena, Książyk, Janusz, Kucińska, Beata, Kukawska, Martyna, Lackowska, Anita, Łapacz, Katarzyna, Maliszak, Agnieszka, Mania, Anna, Mańdziuk, Joanna, Mazur, Artur, Niszczota, Cezary, OpalińskaZielonka, Paulina, Rojewska, Katarzyna, RożnowskaWójtowicz, Anna, Siewert, Bartosz, Sobiczewska, Paulina, Stopyra, Lidia, StrobaŻelek, Agnieszka, StryczyńskaKazubska, Joanna, Sulik, Artur, Szatkowski, Tomasz, Szczepańska, Barbara, Szczukocki, Maciej, Szylo, Robert, Tyc, Filip, Wielgos, Katarzyna, Wołowska, Ewa, Wysocki, Jacek, Zacharzewska, Anna, Zaniew, Marcin, Zielińska, Marzena, ZiębaGlonek, Katarzyna, Mazur-Melewska, Katarzyna

Volltext

Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves von Chan, Melanie M Y, Sadeghi-Alavijeh, Omid, Lopes, Filipa M, Hilger, Alina C, Stanescu, Horia C, Voinescu, Catalin D, Beaman, Glenda M, Newman, William G, Zaniew, Marcin, Weber, Stefanie, Ho, Yee Mang, Connolly, John O, Wood, Dan, Maj, Carlo, Stuckey, Alexander, Kousathanas, Athanasios, Kleta, Robert, Woolf, Adrian S, Bockenhauer, Detlef, Levine, Adam P, Gale, Daniel P

Volltext

Exome sequencing implicates a novel heterozygous missense variant in DSTYK in autosomal dominant lower urinary tract dysfunction and mild hereditary spastic paraparesis von Vidic, Clara, Zaniew, Marcin, Jurga, Szymon, Thiele, Holger, Reutter, Heiko, Hilger, Alina C.

Volltext

Clinical profile of a Polish cohort of children and young adults with cystinuria von Tkaczyk, Marcin, Gadomska-Prokop, Katarzyna, Załuska-Leśniewska, Iga, Musiał, Kinga, Zawadzki, Jan, Jobs, Katarzyna, Porowski, Tadeusz, Rogowska-Kalisz, Anna, Jander, Anna, Kirolos, Merit, Haliński, Adam, Krzemień, Aleksandra, Sobieszczańska-Droździel, Aleksandra, Zachwieja, Katarzyna, Beck, Bodo B., Sikora, Przemysław, Zaniew, Marcin

Volltext

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome von Recker, Florian, Zaniew, Marcin, Böckenhauer, Detlef, Miglietti, Nunzia, Bökenkamp, Arend, Moczulska, Anna, Rogowska-Kalisz, Anna, Laube, Guido, Said-Conti, Valerie, Kasap-Demir, Belde, Niemirska, Anna, Litwin, Mieczysław, Siteń, Grzegorz, Chrzanowska, Krystyna H., Krajewska-Walasek, Małgorzata, Sethi, Sidharth K., Tasic, Velibor, Anglani, Franca, Addis, Maria, Wasilewska, Anna, Szczepańska, Maria, Pawlaczyk, Krzysztof, Sikora, Przemysław, Ludwig, Michael

Volltext

Interest of URS-L in the Treatment of Ureterolithiasis in Preschool Children von Halinski, Adam, Halinski, Andrzej, Zaniew, Marcin, Kudliński, Bartosz, Soltysiak, Jolanta, Sobolewski, Bartłomiej, Steyaert, Henri

Volltext

Genome-wide association study in patients with posterior urethral valves von van der Zanden, Loes F M, Maj, Carlo, Borisov, Oleg, van Rooij, Iris A L M, Quaedackers, Josine S L T, Steffens, Martijn, Schierbaum, Luca, Schneider, Sophia, Waffenschmidt, Lea, Kiemeney, Lambertus A L M, de Wall, Liesbeth L L, Heilmann, Stefanie, Hofmann, Aybike, Gehlen, Jan, Schumacher, Johannes, Szczepanska, Maria, Taranta-Janusz, Katarzyna, Kroll, Pawel, Krzemien, Grazyna, Szmigielska, Agnieszka, Schreuder, Michiel F, Weber, Stefanie, Zaniew, Marcin, Roeleveld, Nel, Reutter, Heiko, Feitz, Wout F J, Hilger, Alina C

Volltext

The copy number variation landscape of congenital anomalies of the kidney and urinary tract von Verbitsky, Miguel, Westland, Rik, Perez, Alejandra, Kiryluk, Krzysztof, Liu, Qingxue, Krithivasan, Priya, Mitrotti, Adele, Fasel, David A., Batourina, Ekaterina, Sampson, Matthew G., Bodria, Monica, Werth, Max, Kao, Charlly, Martino, Jeremiah, Capone, Valentina P., Vivante, Asaf, Shril, Shirlee, Kil, Byum Hee, Marasà, Maddalena, Zhang, Jun Y., Na, Young-Ji, Lim, Tze Y., Ahram, Dina, Weng, Patricia L., Heinzen, Erin L., Carrea, Alba, Piaggio, Giorgio, Gesualdo, Loreto, Manca, Valeria, Masnata, Giuseppe, Gigante, Maddalena, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna A. E., Saraga, Marijan, Santoro, Domenico, Conti, Giovanni, Zamboli, Pasquale, White, Hope, Drozdz, Dorota, Zachwieja, Katarzyna, Miklaszewska, Monika, Tkaczyk, Marcin, Tomczyk, Daria, Krakowska, Anna, Sikora, Przemyslaw, Jarmoliński, Tomasz, Borszewska-Kornacka, Maria K., Pawluch, Robert, Szczepanska, Maria, Adamczyk, Piotr, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Dobson, Mark G., Darlow, John M., Puri, Prem, Barton, David E., Furth, Susan L., Warady, Bradley A., Gucev, Zoran, Lozanovski, Vladimir J., Tasic, Velibor, Pisani, Isabella, Allegri, Landino, Rodas, Lida M., Campistol, Josep M., Jeanpierre, Cécile, Alam, Shumyle, Casale, Pasquale, Wong, Craig S., Lin, Fangming, Miranda, Débora M., Oliveira, Eduardo A., Simões-e-Silva, Ana Cristina, Barasch, Jonathan M., Levy, Brynn, Wu, Nan, Hildebrandt, Friedhelm, Ghiggeri, Gian Marco, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Zhang, Feng, Hakonarson, Hakon, Papaioannou, Virginia E., Mendelsohn, Cathy L., Gharavi, Ali G., Sanna-Cherchi, Simone

Volltext

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens von Kiryluk, Krzysztof, Li, Yifu, Scolari, Francesco, Sanna-Cherchi, Simone, Choi, Murim, Verbitsky, Miguel, Fasel, David, Lata, Sneh, Prakash, Sindhuri, Shapiro, Samantha, Fischman, Clara, Snyder, Holly J, Appel, Gerald, Izzi, Claudia, Viola, Battista Fabio, Dallera, Nadia, Del Vecchio, Lucia, Barlassina, Cristina, Salvi, Erika, Bertinetto, Francesca Eleonora, Amoroso, Antonio, Savoldi, Silvana, Rocchietti, Marcella, Amore, Alessandro, Peruzzi, Licia, Coppo, Rosanna, Salvadori, Maurizio, Ravani, Pietro, Magistroni, Riccardo, Ghiggeri, Gian Marco, Caridi, Gianluca, Bodria, Monica, Lugani, Francesca, Allegri, Landino, Delsante, Marco, Maiorana, Mariarosa, Magnano, Andrea, Frasca, Giovanni, Boer, Emanuela, Boscutti, Giuliano, Ponticelli, Claudio, Mignani, Renzo, Marcantoni, Carmelita, Di Landro, Domenico, Santoro, Domenico, Pani, Antonello, Polci, Rosaria, Feriozzi, Sandro, Chicca, Silvana, Galliani, Marco, Gigante, Maddalena, Gesualdo, Loreto, Zamboli, Pasquale, Battaglia, Giovanni Giorgio, Garozzo, Maurizio, Maixnerová, Dita, Tesar, Vladimir, Eitner, Frank, Rauen, Thomas, Floege, Jürgen, Kovacs, Tibor, Nagy, Judit, Mucha, Krzysztof, Pączek, Leszek, Zaniew, Marcin, Mizerska-Wasiak, Małgorzata, Roszkowska-Blaim, Maria, Pawlaczyk, Krzysztof, Gale, Daniel, Barratt, Jonathan, Thibaudin, Lise, Berthoux, Francois, Canaud, Guillaume, Boland, Anne, Metzger, Marie, Panzer, Ulf, Suzuki, Hitoshi, Goto, Shin, Narita, Ichiei, Caliskan, Yasar, Xie, Jingyuan, Hou, Ping, Chen, Nan, Zhang, Hong, Wyatt, Robert J, Novak, Jan, Julian, Bruce A, Feehally, John, Stengel, Benedicte, Cusi, Daniele, Lifton, Richard P, Gharavi, Ali G

Volltext

Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy von Sanchez-Rodriguez, Elena, Zhou, Xu-Jie, Zanoni, Francesca, Zhang, Jun Y., Sanna-Cherchi, Simone, Canetta, Pietro A., Trimarchi, Hernan, Reich, Heather, Pei, York, Galesic, Kresimir, Stengel, Benedicte, Metzger, Marie, Berthoux, Francois, Berthelot, Laureline, Pillebout, Evangeline, Monteiro, Renato, Nelson, Raoul, Wyatt, Robert J., Smoyer, William, Samhar, Al-Akash, Hidalgo, Guillermo, Weng, Patricia, Sreedharan, Raji, Selewski, David, Kallash, Mahmoud, Vasylyeva, Tetyana L., Chishti, Aftab, Wenderfer, Scott E., Samsonov, Dmitry, Claes, Donna J., Akchurin, Oleh, Kovacs, Tibor, Fiaccadori, Enrico, Amoroso, Antonio, Barlassina, Cristina, Battaglia, Giovanni Giorgio, Boer, Emanuela, Bono, Luisa, Caridi, Gianluca, Coppo, Rosanna, Garozzo, Maurizio, Gesualdo, Loreto, Granata, Simona, Magistroni, Riccardo, Magnano, Andrea, Pani, Antonello, Ponticelli, Claudio, Roccatello, Dario, Salvadori, Maurizio, Salvi, Erica, Santoro, Domenico, Gembillo, Guido, Savoldi, Silvana, Izzi, Claudia, Delbarba, Elisa, Florczak, Michał, Krata, Natalia, Pączek, Leszek, Niemczyk, Stanisław, Moszczuk, Barbara, Pańczyk-Tomaszewska, Malgorzata, Perkowska-Ptasińska, Agnieszka, Bączkowska, Teresa, Durlik, Magdalena, Pawlaczyk, Krzysztof, Sikora, Przemyslaw, Kaminska, Dorota, Krajewska, Magdalena, Kuzmiuk-Glembin, Izabella, Heleniak, Zbigniew, Dębska-Slizien, Alicja, Miklaszewska, Monika, Dyga, Katarzyna, Machura, Edyta, Runowski, Dariusz, van Heel, David, Cotsapas, Chris, Franke, Andre, Annese, Vito, Gregersen, Peter K., Weirauch, Matthew, Goto, Shin, Lee, Hajeong, Park, Jin-Ho, Cho, BeLong, Choi, Murim, Van Wijk, Ans, Ars, Elisabet, Caliskan, Yasar, Kalra, Philip A., Panzer, Ulf, Rauen, Thomas, Eckardt, Kai-Uwe, Chen, Nan, Lifton, Richard P., Loos, Ruth J. F., Ionita-Laza, Iuliana, Julian, Bruce A., Novak, Jan, Scolari, Francesco

Volltext

Outcome of Primary Hyperoxaluria Type 3: Clinics, Diagnostics, and Follow-Up: PO1608 von Higueras, Cristina Martin, Garrelfs, Sander F., Beck, Bodo B., Zaniew, Marcin, Sikora, Przemyslaw, Hoppe, Bernd

Volltext

A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3 von Martin-Higueras, Cristina, Garrelfs, Sander F., Groothoff, Jaap W., Jacob, Dorrit E., Moochhala, Shabbir H., Bacchetta, Justine, Acquaviva, Cecile, Zaniew, Marcin, Sikora, Przymyslaw, Beck, Bodo B., Hoppe, Bernd

Volltext

Detection of X-Linked Variations in SHROOM4 in Four Families With Syndromic Congenital Anomalies of the Kidney and Urinary Tract (CAKUT): SA-PO572 von Kolvenbach, Caroline M., Felger, Tim, Schierbaum, Luca M., Thiffault, Isabelle, Zaniew, Marcin, Hildebrandt, Friedhelm, Grote, Phillip, Odermatt, Benjamin, Reutter, Heiko M., Dworschak, Gabriel C.

Volltext

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome von Lopez-Rivera, Esther, Liu, Yangfan P, Verbitsky, Miguel, Anderson, Blair R, Capone, Valentina P, Otto, Edgar A, Yan, Zhonghai, Mitrotti, Adele, Martino, Jeremiah, Steers, Nicholas J, Fasel, David A, Vukojevic, Katarina, Deng, Rong, Racedo, Silvia E, Liu, Qingxue, Werth, Max, Westland, Rik, Vivante, Asaf, Makar, Gabriel S, Bodria, Monica, Sampson, Matthew G, Gillies, Christopher E, Vega-Warner, Virginia, Maiorana, Mariarosa, Petrey, Donald S, Honig, Barry, Lozanovski, Vladimir J, Salomon, Rémi, Heidet, Laurence, Carpentier, Wassila, Gaillard, Dominique, Carrea, Alba, Gesualdo, Loreto, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna A.E, Arapovic, Adela, Saraga-Babic, Mirna, Saraga, Marijan, Kunac, Nenad, Samii, Ali, McDonald-McGinn, Donna M, Crowley, Terrence B, Zackai, Elaine H, Drozdz, Dorota, Miklaszewska, Monika, Tkaczyk, Marcin, Sikora, Przemyslaw, Szczepanska, Maria, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Darlow, John M, Puri, Prem, Barton, David, Casolari, Emilio, Furth, Susan L, Warady, Bradley A, Gucev, Zoran, Hakonarson, Hakon, Flogelova, Hana, Tasic, Velibor, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Allegri, Landino, Wong, Craig S, Drummond, Iain A, D’Agati, Vivette, Imamoto, Akira, Barasch, Jonathan M, Hildebrandt, Friedhelm, Kiryluk, Krzysztof, Lifton, Richard P, Morrow, Bernice E, Jeanpierre, Cecile, Papaioannou, Virginia E, Ghiggeri, Gian Marco, Gharavi, Ali G, Katsanis, Nicholas, Sanna-Cherchi, Simone

Volltext

P0172ARE FREQUENT STONE REMOVAL PROCEDURES IN PATIENTS WITH PRIMARY HYPEROXALURIA TYPE 3 (PH 3) RELATED TO DECLINE IN KIDNEY FUNCTION? von Hoppe, Bernd, Martin Higueras, Cristina, Beck, Bodo B, Zaniew, Marcin, Sikora, Przemyslaw

Volltext

MO043HYPERURICEMIA IS RELATIVELY COMMON IN CHILDREN WITH HNF1B MUTATION, BUT ITS UTILITY AS A CLINICALLY USEFUL MARKER FOR PREDICTING THE MUTATION IS LIMITED von Kołbuc, Marcin, Bieniaś, Beata, Habbig, Sandra, Kołek, Mateusz, Szczepanska, Maria, Kiliś-Pstrusińska, Katarzyna, Wasilewska, Anna, Adamczyk, Piotr, Motyka, Rafał, Tkaczyk, Marcin, Sikora, Przemysław, Beck, Bodo B, Zaniew, Marcin

Volltext

Presentation and outcome in carriers of pathogenic variants in SLC34A1 and SLC34A3 encoding sodium-phosphate transporter NPT 2a and 2c von Brunkhorst, Max, Brunkhorst, Lena, Martens, Helge, Papizh, Svetlana, Besouw, Martine, Grasemann, Corinna, Turan, Serap, Sikora, Przemyslaw, Chromek, Milan, Cornelissen, Elisabeth, Fila, Marc, Lilien, Marc, Allgrove, Jeremy, Neuhaus, Thomas J., Eltan, Mehmet, Espinosa, Laura, Schnabel, Dirk, Gokce, Ibrahim, González-Rodríguez, Juan David, Khandelwal, Priyanka, Keijzer-Veen, Mandy G., Lechner, Felix, Szczepańska, Maria, Zaniew, Marcin, Bacchetta, Justine, Emma, Francesco, Haffner, Dieter

Volltext