![]() | Up a level |
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