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by Lopez-Rivera, Esther and Liu, Qingxue and Liu, Yangfan P and Verbitsky, Miguel and Anderson, Blair R and Capone, Valentina P and Otto, Edgar A and Yan, Zhonghai and Mitrotti, Adele and Martino, Jeremiah and Steers, Nicholas J and Fasel, David A and Vukojevic, Katarina and Deng, Rong and Racedo, Silvia E and Werth, Max and Westland, Rik and Vivante, Asaf and Makar, Gabriel S and Bodria, Monica and Sampson, Matthew G and Gillies, Christopher E and Vega-Warner, Virginia and Maiorana, Mariarosa and Petrey, Donald S and Honig, Barry and Lozanovski, Vladimir J and Salomon, Rémi and Heidet, Laurence and Carpentier, Wassila and Gaillard, Dominique and Carrea, Alba and Gesualdo, Loreto and Cusi, Daniele and Izzi, Claudia and Scolari, Francesco and van Wijk, Joanna A.E and Arapovic, Adela and Saraga-Babic, Mirna and Saraga, Marijan and Kunac, Nenad and Samii, Ali and McDonald-McGinn, Donna M and Crowley, Terrence B and Zackai, Elaine H and Drozdz, Dorota and Miklaszewska, Monika and Tkaczyk, Marcin and Sikora, Przemyslaw and Szczepanska, Maria and Mizerska-Wasiak, Malgorzata and Krzemien, Grazyna and Szmigielska, Agnieszka and Zaniew, Marcin and Darlow, John M and Puri, Prem and Barton, David and Casolari, Emilio and Furth, Susan L and Warady, Bradley A and Gucev, Zoran and Hakonarson, Hakon and Flogelova, Hana and Tasic, Velibor and Latos-Bielenska, Anna and Materna-Kiryluk, Anna and Allegri, Landino and Wong, Craig S and Drummond, Iain A and D’Agati, Vivette and Imamoto, Akira and Barasch, Jonathan M and Hildebrandt, Friedhelm and Kiryluk, Krzysztof and Lifton, Richard P and Morrow, Bernice E and Jeanpierre, Cecile and Papaioannou, Virginia E and Ghiggeri, Gian Marco and Gharavi, Ali G and Katsanis, Nicholas and Sanna-Cherchi, Simone
The New England Journal of Medicine, ISSN 0028-4793, 02/2017, Volume 376, Issue 8, pp. 742 - 754
Journal Article
by Verbitsky, Miguel and Westland, Rik and Perez, Alejandra and Kiryluk, Krzysztof and Liu, Qingxue and Krithivasan, Priya and Mitrotti, Adele and Fasel, David A and Batourina, Ekaterina and Sampson, Matthew G and Bodria, Monica and Werth, Max and Kao, Charlly and Martino, Jeremiah and Capone, Valentina P and Vivante, Asaf and Shril, Shirlee and Kil, Byum Hee and Marasà, Maddalena and Zhang, Jun Y and Na, Young-Ji and Lim, Tze Y and Ahram, Dina and Weng, Patricia L and Heinzen, Erin L and Carrea, Alba and Piaggio, Giorgio and Gesualdo, Loreto and Manca, Valeria and Masnata, Giuseppe and Gigante, Maddalena and Cusi, Daniele and Izzi, Claudia and Scolari, Francesco and van Wijk, Joanna A. E and Saraga, Marijan and Santoro, Domenico and Conti, Giovanni and Zamboli, Pasquale and White, Hope and Drozdz, Dorota and Zachwieja, Katarzyna and Miklaszewska, Monika and Tkaczyk, Marcin and Tomczyk, Daria and Krakowska, Anna and Sikora, Przemyslaw and Jarmoliński, Tomasz and Borszewska-Kornacka, Maria K and Pawluch, Robert and Szczepanska, Maria and Adamczyk, Piotr and Mizerska-Wasiak, Malgorzata and Krzemien, Grazyna and Szmigielska, Agnieszka and Zaniew, Marcin and Dobson, Mark G and Darlow, John M and Puri, Prem and Barton, David E and Furth, Susan L and Warady, Bradley A and Gucev, Zoran and Lozanovski, Vladimir J and Tasic, Velibor and Pisani, Isabella and Allegri, Landino and Rodas, Lida M and Campistol, Josep M and Jeanpierre, Cécile and Alam, Shumyle and Casale, Pasquale and Wong, Craig S and Lin, Fangming and Miranda, Débora M and Oliveira, Eduardo A and Simões-e-Silva, Ana Cristina and Barasch, Jonathan M and Levy, Brynn and Wu, Nan and Hildebrandt, Friedhelm and Ghiggeri, Gian Marco and Latos-Bielenska, Anna and Materna-Kiryluk, Anna and Zhang, Feng and Hakonarson, Hakon and Papaioannou, Virginia E and Mendelsohn, Cathy L and Gharavi, Ali G and Sanna-Cherchi, Simone
Nature Genetics, ISSN 1061-4036, 01/2019, Volume 51, Issue 1, pp. 117 - 127
Journal Article
by Kiryluk, Krzysztof and Li, Yifu and Scolari, Francesco and Sanna-Cherchi, Simone and Choi, Murim and Verbitsky, Miguel and Fasel, David and Lata, Sneh and Prakash, Sindhuri and Shapiro, Samantha and Fischman, Clara and Snyder, Holly J and Appel, Gerald and Izzi, Claudia and Viola, Battista Fabio and Dallera, Nadia and Del Vecchio, Lucia and Barlassina, Cristina and Salvi, Erika and Bertinetto, Francesca Eleonora and Amoroso, Antonio and Savoldi, Silvana and Rocchietti, Marcella and Amore, Alessandro and Peruzzi, Licia and Coppo, Rosanna and Salvadori, Maurizio and Ravani, Pietro and Magistroni, Riccardo and Ghiggeri, Gian Marco and Caridi, Gianluca and Bodria, Monica and Lugani, Francesca and Allegri, Landino and Delsante, Marco and Maiorana, Mariarosa and Magnano, Andrea and Frasca, Giovanni and Boer, Emanuela and Boscutti, Giuliano and Ponticelli, Claudio and Mignani, Renzo and Marcantoni, Carmelita and Di Landro, Domenico and Santoro, Domenico and Pani, Antonello and Polci, Rosaria and Feriozzi, Sandro and Chicca, Silvana and Galliani, Marco and Gigante, Maddalena and Gesualdo, Loreto and Zamboli, Pasquale and Battaglia, Giovanni Giorgio and Garozzo, Maurizio and Maixnerová, Dita and Tesar, Vladimir and Eitner, Frank and Rauen, Thomas and Floege, Jürgen and Kovacs, Tibor and Nagy, Judit and Mucha, Krzysztof and Pazek, Leszek and Zaniew, Marcin and Mizerska-Wasiak, Maa'Gorzata and Roszkowska-Blaim, Maria and Pawlaczyk, Krzysztof and Gale, Daniel and Barratt, Jonathan and Thibaudin, Lise and Berthoux, Francois and Canaud, Guillaume and Boland, Anne and Metzger, Marie and Panzer, Ulf and Suzuki, Hitoshi and Goto, Shin and Narita, Ichiei and Caliskan, Yasar and Xie, Jingyuan and Hou, Ping and Chen, Nan and Zhang, Hong and Wyatt, Robert J and Novak, Jan and Julian, Bruce A and Feehally, John and Stengel, Benedicte and Cusi, Daniele and Lifton, Richard P and Gharavi, Ali G
Nature Genetics, ISSN 1061-4036, 11/2014, Volume 46, Issue 11, pp. 1187 - 1196
Journal Article
Nephrology Dialysis Transplantation, ISSN 0931-0509, 01/2018, Volume 33, Issue 1, pp. 85 - 94
Background. Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic... 
Lowe syndrome | Nephrocalcinosis | Chronic kidney disease | OCRL | Dent-2 disease | chronic kidney disease | LOWE-SYNDROME | nephrocalcinosis | UROLOGY & NEPHROLOGY | SPECTRUM | DENT-DISEASE | TRANSPLANTATION | Clinical Medicine | Pediatrics | Medical and Health Sciences | Medicin och hälsovetenskap | Pediatrik | Klinisk medicin
Journal Article
Nature Communications, ISSN 2041-1723, 07/2016, Volume 7, Issue 1, p. 12111
Post-translational modifications are necessary for collagen precursor molecules (procollagens) to acquire final shape and function. However, the mechanism and... 
RENAL DYSFUNCTION | RECRUITMENT | TETHERING COMPLEXES | MECHANISM | MULTIDISCIPLINARY SCIENCES | VPS33B | ENDOSOME | LYSYL HYDROXYLASE 3 | MUTATIONS | PROTEINS | EXTRACELLULAR-SPACE
Journal Article
Journal Article
FRONTIERS IN PEDIATRICS, ISSN 2296-2360, 09/2019, Volume 7
Urolithiasis can affect all children even preschool ones. Diagnostic difficulties in the youngest children are due to the problems in locating pain and... 
preschool children | ENDOUROLOGICAL MANAGEMENT | URETERAL STONE | ureterorenoscopy | laser | CALCULI | SHOCK-WAVE LITHOTRIPSY | stone disease | PEDIATRICS | DJ catheter | PEDIATRIC UROLITHIASIS | URETEROSCOPY
Journal Article
by Verbitsky, Miguel and Westland, Rik and Perez, Alejandra and Kiryluk, Krzysztof and Liu, Qingxue and Krithivasan, Priya and Mitrotti, Adele and Fasel, David A and Batourina, Ekaterina and Sampson, Matthew G and Bodria, Monica and Werth, Max and Kao, Charlly and Martino, Jeremiah and Capone, Valentina P and Vivante, Asaf and Shril, Shirlee and Kil, Byum Hee and Marasa, Maddalena and Zhang, Jun Y and Na, Young-Ji and Lim, Tze Y and Ahram, Dina and Weng, Patricia L and Heinzen, Erin L and Carrea, Alba and Piaggio, Giorgio and Gesualdo, Loreto and Manca, Valeria and Masnata, Giuseppe and Gigante, Maddalena and Cusi, Daniele and Izzi, Claudia and Scolari, Francesco and van Wijk, Joanna A E and Saraga, Marijan and Santoro, Domenico and Conti, Giovanni and Zamboli, Pasquale and White, Hope and Drozdz, Dorota and Zachwieja, Katarzyna and Miklaszewska, Monika and Tkaczyk, Marcin and Tomczyk, Daria and Krakowska, Anna and Sikora, Przemyslaw and Jarmoliński, Tomasz and Borszewska-Kornacka, Maria K and Pawluch, Robert and Szczepanska, Maria and Adamczyk, Piotr and Mizerska-Wasiak, Malgorzata and Krzemien, Grazyna and Szmigielska, Agnieszka and Zaniew, Marcin and Dobson, Mark G and Darlow, John M and Puri, Prem and Barton, David E and Furth, Susan L and Warady, Bradley A and Gucev, Zoran and Lozanovski, Vladimir J and Tasic, Velibor and Pisani, Isabella and Allegri, Landino and Rodas, Lida M and Campistol, Josep M and Jeanpierre, Cécile and Alam, Shumyle and Casale, Pasquale and Wong, Craig S and Lin, Fangming and Miranda, Débora M and Oliveira, Eduardo A and Simoes-E-Silva, Ana Cristina and Barasch, Jonathan M and Levy, Brynn and Wu, Nan and Hildebrandt, Friedhelm and Ghiggeri, Gian Marco and Latos-Bielenska, Anna and Materna-Kiryluk, Anna and Zhang, Feng and Hakonarson, Hakon and Papaioannou, Virginia E and Mendelsohn, Cathy L and Gharavi, Ali G and Sanna-Cherchi, Simone
Nature genetics, ISSN 1061-4036, 04/2019, Volume 51, Issue 4, pp. 764 - 764
In the version of this article initially published, affiliation 38 incorrectly read "ICNU-Nephrology and Urology Department, Barcelona, Spain"; "Renal... 
Medical colleges | Genetic disorders | Urinary tract | Congenital defects | Copy number | Urogenital system | Congenital anomalies
Journal Article
by Burgmaier, Kathrin and Burgmaier, Mathias and Kunzmann, Kevin and Ariceta, Gema and Bergmann, Carsten and Buescher, Rainer and Buescher, Anja Katrin and Dursun, Ismail and Duzova, Ali and Eid, Loai and Erger, Florian and Feldkoetter, Markus and Galiano, Matthias and Geßner, Michaela and Goebel, Heike and Gokce, Ibrahim and Haffner, Dieter and Hooman, Nakysa and Hoppe, Bernd and Jankauskiene, Augustina and Klaus, Guenter and König, Jens and Litwin, Mieczyslaw and Massella, Laura and Mekahli, Djalila and Melek, Engin and Mir, Sevgi and Pape, Lars and Prikhodina, Larisa and Ranchin, Bruno and Schild, Raphael and Seeman, Tomas and Sever, Lale and Shroff, Rukshana and Soliman, Neveen A and Stabouli, Stella and Stanczyk, Malgorzata and Tabel, Yilmaz and Taranta-Janusz, Katarzyna and Testa, Sara and Thumfart, Julia and Topaloglu, Rezan and Weber, Lutz Thorsten and Wicher, Dorota and Wühl, Elke and Wygoda, Simone and Yilmaz, Alev and Zachwieja, Katarzyna and Zagozdzon, Ilona and Zerres, Klaus and Ranguelov, Nadejda and Godefroid, Nathalie and Collard, Laure and Lombet, Jacques and Maquet, Julie and Schalk, Gesa and Querfeld, Uwe and Beck, Bodo B and Benzing, Thomas and Buettner, Reinhard and Grundmann, Franziska and Kurschat, Christine and Benz, Marcus and Benz, Kerstin and Tzschoppe, Anja and Buchholz, Björn and Häffner, Karsten and Pohl, Martin and Gross, Oliver and Krügel, Jenny and Stock, Johanna and Patzer, Ludwig and Oh, Jun and Bernhardt, Wanja and Doyon, Anke and Vinke, Tobias and Sander, Anja and Henn, Michael and Derichs, Ute and Beetz, Rolf and Jeck, Nikola and Lange-Sperandio, Bärbel and Ponsel, Sabine and Kusser, Franziska and Uetz, Barbara and Schmidt, Silke and Huppertz-Kessler, Christina and Kranz, Birgitta and Titieni, Andrea and Wurm, Donald and Leichter, Heinz E and Bald, Martin and Billing, Heiko and Nabhan, Marwa M and Lara, Luis Enrique and Papachristou, Fotios and Emma, Francesco and Cerkauskiene, Rimante and Azukaitis, Karolis and Wasilewska, Anna and ... and ESCAPE Study Grp and ARegPKD Consortium and GPN Study Grp and ESCAPE Study Group and ARegPKD consortium and GPN Study Group
The Journal of Pediatrics, ISSN 0022-3476, 08/2018, Volume 199, pp. 22 - 28.e6
Journal Article